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Gene: FBLN1 (fibulin 1) Homo sapiens

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Symbol:

FBLN1

Name:

fibulin 1

RGD ID:

1318572

HGNC Page

HGNC:3600

Description:

Enables several functions, including fibrinogen binding activity; fibronectin binding activity; and integrin binding activity. An extracellular matrix structural constituent. Involved in several processes, including negative regulation of ERK1 and ERK2 cascade; regulation of cell-substrate adhesion; and regulation of macromolecule metabolic process. Located in elastic fiber and extracellular space.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FBLN; FIBL1; fibulin-1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Fbln1 (fibulin 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Fbln1 (fibulin 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Fbln1 (fibulin 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FBLN1 (fibulin 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	FBLN1 (fibulin 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Fbln1 (fibulin 1)	NCBI	Ortholog
Sus scrofa (pig):	FBLN1 (fibulin 1)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (green monkey):	FBLN1 (fibulin 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Fbln1 (fibulin 1)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	FBN3 (fibrillin 3)	HGNC	Treefam
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Fbln1 (fibulin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Fbln1 (fibulin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	fbln1 (fibulin 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	fbl-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG31999	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoInspector\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	fbln1	Alliance	DIOPT (Ensembl Compara\|OMA\|PhylomeDB)
Xenopus laevis (African clawed frog):	fbln1.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	45,502,883 - 45,601,135 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	45,502,238 - 45,601,135 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	45,898,763 - 45,997,015 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	44,277,383 - 44,375,678 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	44,219,255 - 44,275,128	NCBI
Celera	22	29,809,689 - 29,909,644 (+)	NCBI		Celera
Cytogenetic Map	22	q13.31	NCBI
HuRef	22	28,859,953 - 28,942,412 (+)	NCBI		HuRef
CHM1_1	22	45,857,451 - 45,955,744 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	45,987,730 - 46,085,865 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects		IAGP	RGD:8621304	8554872	ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous more ...	ClinVar	PMID:24084572
FBLN1	Human	fetal akinesia deformation sequence syndrome 1		IAGP	RGD:15040444	8554872	ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	ClinVar	PMID:25741868\|PMID:28492532\|PMID:31680123
FBLN1	Human	intellectual disability		IAGP	RGD:42723451	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
FBLN1	Human	Phelan-McDermid syndrome		IAGP	RGD:38598986\|RGD:38598994\|RGD:38598999\|RGD:38599000	8554872	ClinVar Annotator: match by term: Phelan-McDermid syndrome	ClinVar
FBLN1	Human	Synpolydactyly 2		IAGP	RGD:10047784\|RGD:15149621\|RGD:15177820\|RGD:151819845\|RGD:152026114\|RGD:152036902\|RGD:156204136\|RGD:156206303\|RGD:405050164\|RGD:405214016\|RGD:408384423	8554872	ClinVar Annotator: match by term: FBLN1-related condition	ClinVar	PMID:28492532
FBLN1	Human	Synpolydactyly 2		IAGP	RGD:126728270\|RGD:401856207\|RGD:596922480\|RGD:596925069	8554872	ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES	ClinVar	PMID:25741868
FBLN1	Human	Synpolydactyly 2		IAGP	RGD:11635914\|RGD:11639881\|RGD:401926164	8554872	ClinVar Annotator: match by term: FBLN1-related condition	ClinVar
FBLN1	Human	Synpolydactyly 2		IAGP	RGD:11638177\|RGD:11643120\|RGD:13523025\|RGD:150435882\|RGD:150441922\|RGD:15178286\|RGD:151818455\|RGD:152113467	8554872	ClinVar Annotator: match by term: FBLN1-related condition \| ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, more ...	ClinVar	PMID:25741868\|PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	endometriosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:20864642
FBLN1	Human	Prostatic Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:17929269
FBLN1	Human	Synpolydactyly 2		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	Synpolydactyly 2		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1308667	6480464	1,2-Dimethylhydrazine results in increased expression of FBLN1 mRNA	CTD	PMID:27840820
FBLN1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1318573	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of FBLN1 mRNA	CTD	PMID:22206623
FBLN1	Human	1-naphthyl isothiocyanate	increases expression	ISO	RGD:1308667	6480464	1-Naphthylisothiocyanate results in increased expression of FBLN1 mRNA	CTD	PMID:30723492
FBLN1	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of FBLN1 mRNA	CTD	PMID:23019147\|PMID:25321415
FBLN1	Human	17beta-estradiol	multiple interactions	ISO	RGD:1308667	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of FBLN1 mRNA	CTD	PMID:32741896
FBLN1	Human	17beta-estradiol	increases expression	ISO	RGD:1308667	6480464	Estradiol results in increased expression of FBLN1 mRNA	CTD	PMID:32145629
FBLN1	Human	17beta-estradiol 3-benzoate	multiple interactions	ISO	RGD:1308667	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of FBLN1 mRNA	CTD	PMID:32741896
FBLN1	Human	2,2',5,5'-tetrachlorobiphenyl	decreases expression	ISO	RGD:1308667	6480464	2,5,2',5'-tetrachlorobiphenyl results in decreased expression of FBLN1 mRNA	CTD	PMID:23829299
FBLN1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1318573	6480464	Tetrachlorodibenzodioxin affects the expression of FBLN1 mRNA	CTD	PMID:21570461
FBLN1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1308667	6480464	Tetrachlorodibenzodioxin results in increased expression of FBLN1 mRNA	CTD	PMID:33387578
FBLN1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of FBLN1 mRNA	CTD	PMID:36370075
FBLN1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1308667	6480464	Tetrachlorodibenzodioxin affects the expression of FBLN1 mRNA	CTD	PMID:34747641
FBLN1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1308667	6480464	Tetrachlorodibenzodioxin results in decreased expression of FBLN1 mRNA	CTD	PMID:32109520
FBLN1	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	RGD:1318573	6480464	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of FBLN1 mRNA	CTD	PMID:20188158
FBLN1	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
FBLN1	Human	3-Nitrobenzanthrone	decreases expression	EXP		6480464	3-nitrobenzanthrone results in decreased expression of FBLN1 mRNA	CTD	PMID:34036453
FBLN1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1318573	6480464	bisphenol S results in increased expression of FBLN1 mRNA	CTD	PMID:30951980
FBLN1	Human	4,4'-sulfonyldiphenol	multiple interactions	ISO	RGD:1308667	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of more ...	CTD	PMID:36041667
FBLN1	Human	4-phenylbutyric acid	increases expression	EXP		6480464	4-phenylbutyric acid results in increased expression of FBLN1 mRNA	CTD	PMID:14583596
FBLN1	Human	5-azacytidine	increases expression	EXP		6480464	Azacitidine results in increased expression of FBLN1 mRNA	CTD	PMID:21245298
FBLN1	Human	5-fluorouracil	affects expression	EXP		6480464	Fluorouracil affects the expression of FBLN1 mRNA	CTD	PMID:15205334
FBLN1	Human	5-fluorouracil	increases expression	EXP		6480464	Fluorouracil results in increased expression of FBLN1 mRNA	CTD	PMID:17039268
FBLN1	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:1308667	6480464	Propylthiouracil results in increased expression of FBLN1 mRNA	CTD	PMID:24780913
FBLN1	Human	6alpha-methylprednisolone	increases expression	EXP		6480464	Methylprednisolone results in increased expression of FBLN1 mRNA	CTD	PMID:19192274
FBLN1	Human	8-Br-cAMP	increases expression	EXP		6480464	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of FBLN1 mRNA	CTD	PMID:15774544
FBLN1	Human	acetamide	increases expression	ISO	RGD:1308667	6480464	acetamide results in increased expression of FBLN1 mRNA	CTD	PMID:31881176
FBLN1	Human	acrylamide	decreases expression	ISO	RGD:1308667	6480464	Acrylamide results in decreased expression of FBLN1 mRNA	CTD	PMID:28959563
FBLN1	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of FBLN1 mRNA	CTD	PMID:32763439
FBLN1	Human	aflatoxin B1	increases expression	ISO	RGD:1308667	6480464	Aflatoxin B1 results in increased expression of FBLN1 mRNA	CTD	PMID:23630614\|PMID:25378103
FBLN1	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of FBLN1 mRNA	CTD	PMID:32234424
FBLN1	Human	aflatoxin B1	affects methylation	EXP		6480464	Aflatoxin B1 affects the methylation of FBLN1 intron	CTD	PMID:30157460
FBLN1	Human	all-trans-retinoic acid	increases expression	ISO	RGD:1318573	6480464	Tretinoin results in increased expression of FBLN1 mRNA	CTD	PMID:16604517
FBLN1	Human	amphotericin B	increases expression	EXP		6480464	Amphotericin B analog results in increased expression of FBLN1 mRNA	CTD	PMID:28534445
FBLN1	Human	arsane	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of FBLN1 more ...	CTD	PMID:39836092
FBLN1	Human	arsenic atom	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of FBLN1 more ...	CTD	PMID:39836092
FBLN1	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of FBLN1 mRNA	CTD	PMID:25555879
FBLN1	Human	arsenous acid	multiple interactions	EXP		6480464	[Arsenic Trioxide co-treated with Ascorbic Acid] results in increased expression of FBLN1 mRNA	CTD	PMID:25555879
FBLN1	Human	azathioprine	increases expression	EXP		6480464	Azathioprine results in increased expression of FBLN1 mRNA	CTD	PMID:19192274
FBLN1	Human	belinostat	decreases expression	EXP		6480464	belinostat results in decreased expression of FBLN1 mRNA	CTD	PMID:26272509
FBLN1	Human	belinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression more ...	CTD	PMID:27188386
FBLN1	Human	benzo[a]pyrene	multiple interactions	ISO	RGD:1318573	6480464	Benzo(a)pyrene promotes the reaction [AHR protein binds to FBLN1 promoter]	CTD	PMID:19654925
FBLN1	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of FBLN1 mRNA	CTD	PMID:32234424
FBLN1	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of FBLN1 promoter	CTD	PMID:27901495
FBLN1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of FBLN1 intron	CTD	PMID:30157460
FBLN1	Human	benzo[a]pyrene	increases methylation	ISO	RGD:1318573	6480464	Benzo(a)pyrene results in increased methylation of FBLN1 exon; Benzo(a)pyrene results in increased methylation of FBLN1 more ...	CTD	PMID:27901495
FBLN1	Human	benzo[a]pyrene	decreases expression	ISO	RGD:1318573	6480464	Benzo(a)pyrene results in decreased expression of FBLN1 mRNA	CTD	PMID:21569818
FBLN1	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of FBLN1 intron	CTD	PMID:30157460
FBLN1	Human	bis(2-ethylhexyl) phthalate	increases expression	EXP		6480464	Diethylhexyl Phthalate results in increased expression of FBLN1 mRNA	CTD	PMID:31163220
FBLN1	Human	bisphenol A	decreases expression	ISO	RGD:1308667	6480464	bisphenol A results in decreased expression of FBLN1 mRNA	CTD	PMID:25181051\|PMID:30816183\|PMID:32528016\|PMID:34947998\|PMID:38750585
FBLN1	Human	bisphenol A	decreases expression	ISO	RGD:1318573	6480464	bisphenol A results in decreased expression of FBLN1 mRNA	CTD	PMID:37894381
FBLN1	Human	bisphenol A	multiple interactions	ISO	RGD:1308667	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of more ...	CTD	PMID:36041667
FBLN1	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of FBLN1 gene	CTD	PMID:31601247
FBLN1	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of FBLN1 mRNA	CTD	PMID:29275510
FBLN1	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of FBLN1 mRNA	CTD	PMID:30903817
FBLN1	Human	bisphenol A	increases expression	ISO	RGD:1318573	6480464	bisphenol A results in increased expression of FBLN1 mRNA	CTD	PMID:30951980\|PMID:37105096
FBLN1	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of FBLN1 gene; [INS protein co-treated more ...	CTD	PMID:28628672\|PMID:31601247
FBLN1	Human	bisphenol F	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] more ...	CTD	PMID:28628672
FBLN1	Human	bisphenol F	multiple interactions	ISO	RGD:1308667	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of more ...	CTD	PMID:36041667
FBLN1	Human	bisphenol F	increases expression	ISO	RGD:1318573	6480464	bisphenol F results in increased expression of FBLN1 mRNA	CTD	PMID:30951980
FBLN1	Human	butan-1-ol	multiple interactions	EXP		6480464	[[Gasoline co-treated with 1-Butanol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic more ...	CTD	PMID:29432896
FBLN1	Human	cadmium acetate	decreases expression	EXP		6480464	cadmium acetate results in decreased expression of FBLN1 mRNA	CTD	PMID:18155341
FBLN1	Human	cadmium atom	multiple interactions	ISO	RGD:1318573	6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of FBLN1 more ...	CTD	PMID:37325564
FBLN1	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of FBLN1 mRNA	CTD	PMID:38382870
FBLN1	Human	cadmium dichloride	multiple interactions	ISO	RGD:1318573	6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of FBLN1 more ...	CTD	PMID:37325564
FBLN1	Human	calcitriol	decreases expression	EXP		6480464	Calcitriol results in decreased expression of FBLN1 mRNA	CTD	PMID:26485663
FBLN1	Human	cantharidin	decreases expression	ISO	RGD:1318573	6480464	Cantharidin results in decreased expression of FBLN1 mRNA	CTD	PMID:36907384
FBLN1	Human	carbon nanotube	affects expression	ISO	RGD:1318573	6480464	Nanotubes, Carbon affects the expression of FBLN1 mRNA	CTD	PMID:25554681
FBLN1	Human	carbon nanotube	decreases expression	ISO	RGD:1318573	6480464	Nanotubes, Carbon analog results in decreased expression of FBLN1 mRNA	CTD	PMID:25554681
FBLN1	Human	cefaloridine	increases expression	ISO	RGD:1308667	6480464	Cephaloridine results in increased expression of FBLN1 mRNA	CTD	PMID:18500788
FBLN1	Human	chlormequat chloride	increases expression	ISO	RGD:1308667	6480464	Chlormequat results in increased expression of FBLN1 protein	CTD	PMID:34958886
FBLN1	Human	chromium(6+)	affects expression	ISO	RGD:1318573	6480464	chromium hexavalent ion affects the expression of FBLN1 mRNA	CTD	PMID:28472532
FBLN1	Human	cobalt dichloride	decreases secretion	EXP		6480464	cobaltous chloride results in decreased secretion of FBLN1 protein	CTD	PMID:22079246
FBLN1	Human	copper atom	increases expression	ISO	RGD:1308667	6480464	Copper deficiency results in increased expression of FBLN1 mRNA	CTD	PMID:26033743
FBLN1	Human	copper atom	decreases expression	ISO	RGD:1308667	6480464	Copper results in decreased expression of FBLN1 mRNA	CTD	PMID:30556269
FBLN1	Human	copper atom	multiple interactions	ISO	RGD:1308667	6480464	[Copper deficiency co-treated with tetrathiomolybdate] results in decreased expression of FBLN1 mRNA; [Copper deficiency co-treated more ...	CTD	PMID:22276220
FBLN1	Human	copper(0)	increases expression	ISO	RGD:1308667	6480464	Copper deficiency results in increased expression of FBLN1 mRNA	CTD	PMID:26033743
FBLN1	Human	copper(0)	decreases expression	ISO	RGD:1308667	6480464	Copper results in decreased expression of FBLN1 mRNA	CTD	PMID:30556269
FBLN1	Human	copper(0)	multiple interactions	ISO	RGD:1308667	6480464	[Copper deficiency co-treated with tetrathiomolybdate] results in decreased expression of FBLN1 mRNA; [Copper deficiency co-treated more ...	CTD	PMID:22276220
FBLN1	Human	copper(II) chloride	decreases expression	EXP		6480464	cupric chloride results in decreased expression of FBLN1 mRNA	CTD	PMID:38568856
FBLN1	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of FBLN1 mRNA	CTD	PMID:19549813
FBLN1	Human	corosolic acid	increases expression	EXP		6480464	corosolic acid results in increased expression of FBLN1 mRNA	CTD	PMID:37939859
FBLN1	Human	Cuprizon	increases expression	ISO	RGD:1308667	6480464	Cuprizone results in increased expression of FBLN1 mRNA	CTD	PMID:26577399\|PMID:27523638
FBLN1	Human	cytarabine	decreases expression	EXP		6480464	Cytarabine results in decreased expression of FBLN1 mRNA	CTD	PMID:21198554
FBLN1	Human	decabromodiphenyl ether	decreases expression	ISO	RGD:1308667	6480464	decabromobiphenyl ether results in decreased expression of FBLN1 mRNA	CTD	PMID:23640034
FBLN1	Human	dexamethasone	increases expression	ISO	RGD:1318573	6480464	Dexamethasone results in increased expression of FBLN1 mRNA	CTD	PMID:22733784
FBLN1	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
FBLN1	Human	diallyl trisulfide	increases expression	ISO	RGD:1308667	6480464	diallyl trisulfide results in increased expression of FBLN1 mRNA	CTD	PMID:34014027
FBLN1	Human	diarsenic trioxide	multiple interactions	EXP		6480464	[Arsenic Trioxide co-treated with Ascorbic Acid] results in increased expression of FBLN1 mRNA	CTD	PMID:25555879
FBLN1	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of FBLN1 mRNA	CTD	PMID:25555879
FBLN1	Human	dibenz[a,h]anthracene	increases expression	ISO	RGD:1318573	6480464	1,2,5,6-dibenzanthracene results in increased expression of FBLN1 mRNA	CTD	PMID:26377693
FBLN1	Human	dimethylarsinic acid	decreases expression	ISO	RGD:1308667	6480464	Cacodylic Acid results in decreased expression of FBLN1 mRNA	CTD	PMID:37567419
FBLN1	Human	dioxygen	multiple interactions	ISO	RGD:1318573	6480464	[sulforaphane affects the susceptibility to Oxygen] which affects the expression of FBLN1 mRNA	CTD	PMID:30529165
FBLN1	Human	dioxygen	multiple interactions	ISO	RGD:1308667	6480464	[Oxygen deficiency co-treated with Blood Glucose deficiency co-treated with Particulate Matter] results in decreased expression more ...	CTD	PMID:33729688
FBLN1	Human	diquat	decreases expression	ISO	RGD:1318573	6480464	Diquat results in decreased expression of FBLN1 mRNA	CTD	PMID:36851058
FBLN1	Human	diuron	increases expression	ISO	RGD:1308667	6480464	Diuron results in increased expression of FBLN1 mRNA	CTD	PMID:21551480
FBLN1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression more ...	CTD	PMID:27188386
FBLN1	Human	doxorubicin	increases expression	ISO	RGD:1318573	6480464	Doxorubicin results in increased expression of FBLN1 mRNA	CTD	PMID:15033991
FBLN1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of FBLN1 mRNA	CTD	PMID:29803840
FBLN1	Human	doxorubicin	affects expression	EXP		6480464	Doxorubicin affects the expression of FBLN1 mRNA	CTD	PMID:15205334
FBLN1	Human	elemental selenium	increases expression	EXP		6480464	Selenium results in increased expression of FBLN1 mRNA	CTD	PMID:19244175
FBLN1	Human	endosulfan	decreases expression	ISO	RGD:1308667	6480464	Endosulfan results in decreased expression of FBLN1 mRNA	CTD	PMID:29391264
FBLN1	Human	ethanol	increases expression	ISO	RGD:1318573	6480464	Ethanol results in increased expression of FBLN1 mRNA	CTD	PMID:30319688
FBLN1	Human	folic acid	multiple interactions	ISO	RGD:1318573	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of FBLN1 mRNA	CTD	PMID:22206623
FBLN1	Human	fulvestrant	increases methylation	EXP		6480464	Fulvestrant results in increased methylation of FBLN1 gene	CTD	PMID:31601247
FBLN1	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of FBLN1 gene	CTD	PMID:31601247
FBLN1	Human	furan	increases expression	ISO	RGD:1308667	6480464	furan results in increased expression of FBLN1 mRNA	CTD	PMID:27387713
FBLN1	Human	genistein	increases expression	EXP		6480464	Genistein results in increased expression of FBLN1 mRNA	CTD	PMID:23019147
FBLN1	Human	glycidyl methacrylate	decreases expression	EXP		6480464	glycidyl methacrylate results in decreased expression of FBLN1 protein	CTD	PMID:36641056
FBLN1	Human	hydrogen cyanide	decreases expression	ISO	RGD:1318573	6480464	Hydrogen Cyanide results in decreased expression of FBLN1 mRNA	CTD	PMID:33914522
FBLN1	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of FBLN1 mRNA	CTD	PMID:20044591
FBLN1	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
FBLN1	Human	inulin	multiple interactions	ISO	RGD:1318573	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of FBLN1 mRNA	CTD	PMID:36331819
FBLN1	Human	isotretinoin	increases expression	EXP		6480464	Isotretinoin results in increased expression of FBLN1 mRNA	CTD	PMID:20436886
FBLN1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of FBLN1 protein	CTD	PMID:32959892
FBLN1	Human	L-ascorbic acid	increases expression	EXP		6480464	Ascorbic Acid results in increased expression of FBLN1 mRNA	CTD	PMID:25555879
FBLN1	Human	L-ascorbic acid	multiple interactions	EXP		6480464	[arsenic trioxide co-treated with Ascorbic Acid] results in increased expression of FBLN1 mRNA	CTD	PMID:25555879
FBLN1	Human	medroxyprogesterone acetate	increases expression	EXP		6480464	Medroxyprogesterone Acetate results in increased expression of FBLN1 mRNA; Medroxyprogesterone Acetate results in increased expression more ...	CTD	PMID:15774544
FBLN1	Human	medroxyprogesterone acetate	multiple interactions	EXP		6480464	Mifepristone inhibits the reaction [Medroxyprogesterone Acetate results in increased expression of FBLN1 mRNA]	CTD	PMID:15774544
FBLN1	Human	menadione	affects expression	EXP		6480464	Vitamin K 3 affects the expression of FBLN1 mRNA	CTD	PMID:20044591
FBLN1	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of FBLN1 intron	CTD	PMID:30157460
FBLN1	Human	methotrexate	increases expression	EXP		6480464	Methotrexate results in increased expression of FBLN1 mRNA	CTD	PMID:19192274
FBLN1	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of FBLN1 mRNA	CTD	PMID:23179753
FBLN1	Human	microcystin-LR	increases expression	ISO	RGD:1308667	6480464	cyanoginosin LR results in increased expression of FBLN1 mRNA	CTD	PMID:34740672
FBLN1	Human	mifepristone	multiple interactions	EXP		6480464	Mifepristone inhibits the reaction [Medroxyprogesterone Acetate results in increased expression of FBLN1 mRNA]	CTD	PMID:15774544
FBLN1	Human	mifepristone	decreases expression	EXP		6480464	Mifepristone results in decreased expression of FBLN1 mRNA	CTD	PMID:17584828
FBLN1	Human	monosodium L-glutamate	decreases expression	ISO	RGD:1318573	6480464	Sodium Glutamate results in decreased expression of FBLN1 mRNA	CTD	PMID:22078008
FBLN1	Human	N,N-diethyl-m-toluamide	multiple interactions	ISO	RGD:1308667	6480464	[Permethrin co-treated with DEET] affects the methylation of FBLN1 gene	CTD	PMID:33148267
FBLN1	Human	N-methyl-4-phenylpyridinium	increases expression	ISO	RGD:1318573	6480464	1-Methyl-4-phenylpyridinium results in increased expression of FBLN1 protein	CTD	PMID:26558463
FBLN1	Human	N-nitrosodiethylamine	increases expression	ISO	RGD:1318573	6480464	Diethylnitrosamine results in increased expression of FBLN1 mRNA	CTD	PMID:17854601
FBLN1	Human	N-nitrosodiethylamine	multiple interactions	ISO	RGD:1318573	6480464	RB1 protein inhibits the reaction [Diethylnitrosamine results in increased expression of FBLN1 mRNA]	CTD	PMID:17854601
FBLN1	Human	okadaic acid	decreases expression	EXP		6480464	Okadaic Acid results in decreased expression of FBLN1 mRNA	CTD	PMID:38832940
FBLN1	Human	ozone	multiple interactions	ISO	RGD:1318573	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in decreased more ...	CTD	PMID:34911549
FBLN1	Human	paracetamol	affects expression	ISO	RGD:1318573	6480464	Acetaminophen affects the expression of FBLN1 mRNA	CTD	PMID:17562736
FBLN1	Human	paracetamol	increases expression	ISO	RGD:1308667	6480464	Acetaminophen results in increased expression of FBLN1 mRNA	CTD	PMID:33387578
FBLN1	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of FBLN1 mRNA	CTD	PMID:22230336
FBLN1	Human	PCB138	decreases expression	ISO	RGD:1308667	6480464	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of FBLN1 mRNA	CTD	PMID:23829299
FBLN1	Human	pentane-2,3-dione	decreases expression	ISO	RGD:1308667	6480464	2,3-pentanedione results in decreased expression of FBLN1 mRNA	CTD	PMID:25710175
FBLN1	Human	perfluorohexanesulfonic acid	decreases expression	ISO	RGD:1318573	6480464	perfluorohexanesulfonic acid results in decreased expression of FBLN1 mRNA	CTD	PMID:37995155
FBLN1	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	RGD:1318573	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of FBLN1 mRNA	CTD	PMID:36331819
FBLN1	Human	perfluorooctanoic acid	increases expression	ISO	RGD:1318573	6480464	perfluorooctanoic acid results in increased expression of FBLN1 protein	CTD	PMID:36214631
FBLN1	Human	permethrin	multiple interactions	ISO	RGD:1308667	6480464	[Permethrin co-treated with DEET] affects the methylation of FBLN1 gene	CTD	PMID:33148267
FBLN1	Human	phenobarbital	multiple interactions	ISO	RGD:1318573	6480464	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of FBLN1 mRNA]	CTD	PMID:19482888
FBLN1	Human	phenobarbital	increases expression	ISO	RGD:1318573	6480464	Phenobarbital results in increased expression of FBLN1 mRNA	CTD	PMID:19482888
FBLN1	Human	phenylmercury acetate	decreases expression	EXP		6480464	Phenylmercuric Acetate results in decreased expression of FBLN1 mRNA	CTD	PMID:26272509
FBLN1	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ...	CTD	PMID:27188386
FBLN1	Human	pioglitazone	increases expression	EXP		6480464	Pioglitazone results in increased expression of FBLN1 mRNA	CTD	PMID:30031879
FBLN1	Human	pirinixic acid	decreases expression	ISO	RGD:1318573	6480464	pirinixic acid results in decreased expression of FBLN1 mRNA	CTD	PMID:17426115
FBLN1	Human	potassium chromate	decreases expression	EXP		6480464	potassium chromate(VI) results in decreased expression of FBLN1 mRNA	CTD	PMID:22714537
FBLN1	Human	potassium cyanide	increases expression	ISO	RGD:1318573	6480464	Potassium Cyanide results in increased expression of FBLN1 mRNA	CTD	PMID:33914522
FBLN1	Human	potassium dichromate	increases expression	ISO	RGD:1318573	6480464	Potassium Dichromate results in increased expression of FBLN1 mRNA	CTD	PMID:23608068
FBLN1	Human	potassium dichromate	increases expression	EXP		6480464	Potassium Dichromate results in increased expression of FBLN1 protein	CTD	PMID:23718831
FBLN1	Human	prednisolone	increases expression	EXP		6480464	Prednisolone results in increased expression of FBLN1 mRNA	CTD	PMID:19192274
FBLN1	Human	progesterone	increases expression	EXP		6480464	Progesterone results in increased expression of FBLN1 mRNA	CTD	PMID:15774544
FBLN1	Human	sarin	decreases expression	EXP		6480464	Sarin results in decreased expression of FBLN1 mRNA	CTD	PMID:19522546
FBLN1	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression more ...	CTD	PMID:27188386
FBLN1	Human	selenium atom	increases expression	EXP		6480464	Selenium results in increased expression of FBLN1 mRNA	CTD	PMID:19244175
FBLN1	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide analog results in decreased expression of FBLN1 mRNA	CTD	PMID:25895662
FBLN1	Human	silicon dioxide	increases expression	EXP		6480464	Silicon Dioxide analog results in increased expression of FBLN1 mRNA	CTD	PMID:23806026
FBLN1	Human	sirolimus	increases expression	ISO	RGD:1308667	6480464	Sirolimus results in increased expression of FBLN1 mRNA	CTD	PMID:21865292
FBLN1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of FBLN1 mRNA	CTD	PMID:22714537
FBLN1	Human	sodium arsenite	increases expression	ISO	RGD:1318573	6480464	sodium arsenite results in increased expression of FBLN1 mRNA	CTD	PMID:37682722
FBLN1	Human	sodium arsenite	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of FBLN1 more ...	CTD	PMID:39836092
FBLN1	Human	sodium arsenite	decreases methylation	EXP		6480464	sodium arsenite results in decreased methylation of FBLN1 intron	CTD	PMID:32844245
FBLN1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of FBLN1 mRNA	CTD	PMID:29301061\|PMID:32844245
FBLN1	Human	sodium arsenite	decreases expression	ISO	RGD:1318573	6480464	sodium arsenite results in decreased expression of FBLN1 mRNA	CTD	PMID:18812580
FBLN1	Human	sodium aurothiomalate	increases expression	EXP		6480464	Gold Sodium Thiomalate results in increased expression of FBLN1 mRNA	CTD	PMID:19192274
FBLN1	Human	Soman	increases expression	ISO	RGD:1308667	6480464	Soman results in increased expression of FBLN1 mRNA	CTD	PMID:19281266
FBLN1	Human	sulforaphane	multiple interactions	ISO	RGD:1318573	6480464	[sulforaphane affects the susceptibility to Oxygen] which affects the expression of FBLN1 mRNA	CTD	PMID:30529165
FBLN1	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of FBLN1 mRNA	CTD	PMID:31533062
FBLN1	Human	tacrolimus hydrate	increases expression	ISO	RGD:1308667	6480464	Tacrolimus results in increased expression of FBLN1 mRNA	CTD	PMID:21865292
FBLN1	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of FBLN1 mRNA	CTD	PMID:31758290
FBLN1	Human	tert-butyl hydroperoxide	decreases expression	EXP		6480464	tert-Butylhydroperoxide results in decreased expression of FBLN1 mRNA	CTD	PMID:15336504
FBLN1	Human	testosterone	multiple interactions	ISO	RGD:1308667	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of FBLN1 mRNA	CTD	PMID:32741896
FBLN1	Human	tetrachloromethane	increases expression	ISO	RGD:1308667	6480464	Carbon Tetrachloride results in increased expression of FBLN1 mRNA	CTD	PMID:31150632
FBLN1	Human	tetrathiomolybdate(2-)	multiple interactions	ISO	RGD:1308667	6480464	[Copper deficiency co-treated with tetrathiomolybdate] results in decreased expression of FBLN1 mRNA; [Copper deficiency co-treated more ...	CTD	PMID:22276220
FBLN1	Human	thioacetamide	increases expression	ISO	RGD:1308667	6480464	Thioacetamide results in increased expression of FBLN1 mRNA	CTD	PMID:23411599
FBLN1	Human	titanium dioxide	decreases expression	ISO	RGD:1318573	6480464	titanium dioxide results in decreased expression of FBLN1 mRNA	CTD	PMID:23557971\|PMID:27760801
FBLN1	Human	titanium dioxide	decreases methylation	ISO	RGD:1318573	6480464	titanium dioxide results in decreased methylation of FBLN1 gene	CTD	PMID:35295148
FBLN1	Human	trichloroethene	decreases expression	ISO	RGD:1318573	6480464	Trichloroethylene results in decreased expression of FBLN1 mRNA	CTD	PMID:25549359
FBLN1	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
FBLN1	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of FBLN1 mRNA	CTD	PMID:24935251\|PMID:26272509\|PMID:27188386
FBLN1	Human	triclosan	increases expression	EXP		6480464	Triclosan results in increased expression of FBLN1 mRNA	CTD	PMID:30510588
FBLN1	Human	trimellitic anhydride	decreases expression	ISO	RGD:1318573	6480464	trimellitic anhydride results in decreased expression of FBLN1 mRNA	CTD	PMID:19042947
FBLN1	Human	tunicamycin	decreases expression	EXP		6480464	Tunicamycin results in decreased expression of FBLN1 mRNA	CTD	PMID:22378314
FBLN1	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of FBLN1 mRNA	CTD	PMID:23179753\|PMID:24935251\|PMID:28001369
FBLN1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of FBLN1 mRNA	CTD	PMID:25979313
FBLN1	Human	valproic acid	increases expression	ISO	RGD:1318573	6480464	Valproic Acid results in increased expression of FBLN1 mRNA	CTD	PMID:24896083
FBLN1	Human	vinclozolin	decreases expression	ISO	RGD:1308667	6480464	vinclozolin results in decreased expression of FBLN1 mRNA	CTD	PMID:23034163
FBLN1	Human	vitamin E	increases expression	EXP		6480464	Vitamin E results in increased expression of FBLN1 mRNA	CTD	PMID:19244175
FBLN1	Human	vorinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ...	CTD	PMID:27188386
FBLN1	Human	zoledronic acid	increases expression	EXP		6480464	zoledronic acid results in increased expression of FBLN1 mRNA; zoledronic acid results in increased expression more ...	CTD	PMID:24714768\|PMID:28871336

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	blood coagulation, fibrin clot formation	involved_in	IDA		150520179	PMID:7642629	UniProt	PMID:7642629
FBLN1	Human	embryo implantation		ISO	RGD:1308667	9068941		RGD	PMID:15112320\|REF_RGD_ID:1598926
FBLN1	Human	embryo implantation	involved_in	IEA	UniProtKB:A6HTD8\|UniProtKB:D3ZQ25\|ensembl:ENSRNOP00000046622	150520179		Ensembl	GO_REF:0000107
FBLN1	Human	extracellular matrix organization	involved_in	IEA	InterPro:IPR017048	150520179		InterPro	GO_REF:0000002
FBLN1	Human	extracellular matrix organization	acts_upstream_of_or_within	IEA	UniProtKB:Q08879\|ensembl:ENSMUSP00000054583	150520179		Ensembl	GO_REF:0000107
FBLN1	Human	integrin-mediated signaling pathway	NOT\|involved_in	IDA		150520179	PMID:11792823	UniProt	PMID:11792823
FBLN1	Human	negative regulation of cell adhesion	involved_in	IDA		150520179	PMID:11792823	UniProt	PMID:11792823
FBLN1	Human	negative regulation of cell motility	involved_in	IDA		150520179	PMID:11792823	UniProt	PMID:11792823
FBLN1	Human	negative regulation of ERK1 and ERK2 cascade	involved_in	IDA		150520179	PMID:11792823	UniProt	PMID:11792823
FBLN1	Human	negative regulation of protein phosphorylation	involved_in	IDA		150520179	PMID:11792823	UniProt	PMID:11792823
FBLN1	Human	negative regulation of stem cell proliferation	involved_in	IDA		150520179	PMID:11238726	UniProt	PMID:11238726
FBLN1	Human	negative regulation of substrate adhesion-dependent cell spreading	involved_in	IDA		150520179	PMID:11792823	UniProt	PMID:11792823
FBLN1	Human	negative regulation of transforming growth factor beta production	involved_in	IDA		150520179	PMID:25834989	UniProt	PMID:25834989
FBLN1	Human	positive regulation of fibroblast proliferation	involved_in	IDA		150520179	PMID:25834989	UniProt	PMID:25834989
FBLN1	Human	positive regulation of gene expression	involved_in	IDA		150520179	PMID:25834989	UniProt	PMID:25834989
FBLN1	Human	positive regulation of substrate-dependent cell migration, cell attachment to substrate	involved_in	IDA		150520179	PMID:25834989	UniProt	PMID:25834989

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	basement membrane	located_in	IEA	UniProtKB:Q08879\|ensembl:ENSMUSP00000054583	150520179		Ensembl	GO_REF:0000107
FBLN1	Human	collagen-containing extracellular matrix	located_in	HDA		150520179	PMID:20551380, PMID:25037231, PMID:28327460, PMID:28675934	BHF-UCL	PMID:20551380\|PMID:25037231\|PMID:28327460\|PMID:28675934
FBLN1	Human	elastic fiber	located_in	IDA		150520179	PMID:7534784	UniProt	PMID:7534784
FBLN1	Human	extracellular exosome	located_in	HDA		150520179	PMID:23533145	UniProt	PMID:23533145
FBLN1	Human	extracellular matrix	located_in	IDA		150520179	PMID:2269669	UniProt	PMID:2269669
FBLN1	Human	extracellular matrix	located_in	IEA	ARBA:ARBA00027396	150520179		UniProt	GO_REF:0000117
FBLN1	Human	extracellular region	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1592387\|Reactome:R-HSA-2161282\|Reactome:R-HSA-2537665
FBLN1	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044
FBLN1	Human	extracellular region	located_in	IEA	InterPro:IPR000020	150520179		InterPro	GO_REF:0000002
FBLN1	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
FBLN1	Human	extracellular region	located_in	NAS		150520179	PMID:14718574	UniProt	PMID:14718574
FBLN1	Human	extracellular region	located_in	HDA		150520179	PMID:27068509	BHF-UCL	PMID:27068509
FBLN1	Human	extracellular space	located_in	IDA		150520179	PMID:2269669	UniProt	PMID:2269669
FBLN1	Human	extracellular space	NOT\|located_in	IDA		150520179	PMID:25661773	UniProt	PMID:25661773
FBLN1	Human	extracellular space	located_in	HDA		150520179	PMID:20551380	BHF-UCL	PMID:20551380

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	calcium ion binding	enables	IDA		150520179	PMID:9278415	UniProt	PMID:9278415
FBLN1	Human	calcium ion binding	enables	IEA	InterPro:IPR001881\|InterPro:IPR018097	150520179		InterPro	GO_REF:0000002
FBLN1	Human	extracellular matrix structural constituent	enables	IDA		150520179	PMID:2269669	UniProt	PMID:2269669
FBLN1	Human	extracellular matrix structural constituent	enables	RCA		150520179	PMID:20551380, PMID:25037231, PMID:28327460, PMID:28675934	BHF-UCL	PMID:20551380\|PMID:25037231\|PMID:28327460\|PMID:28675934
FBLN1	Human	fibrinogen binding	enables	IPI	UniProtKB:P02676	150520179	PMID:7642629	UniProt	PMID:7642629
FBLN1	Human	fibronectin binding	enables	IPI	UniProtKB:P02751	150520179	PMID:1400330, PMID:9278415	UniProt	PMID:1400330\|PMID:9278415
FBLN1	Human	identical protein binding	enables	IDA		150520179	PMID:1400330, PMID:25661773, PMID:9278415	UniProt	PMID:1400330\|PMID:25661773\|PMID:9278415
FBLN1	Human	identical protein binding	enables	IPI	UniProtKB:P23142	150520179	PMID:25661773	ARUK-UCL	PMID:25661773
FBLN1	Human	integrin binding	enables	IPI	UniProtKB:P05556	150520179	PMID:25661773	UniProt	PMID:25661773
FBLN1	Human	integrin binding	enables	IDA		150520179	PMID:25661773	UniProt	PMID:25661773
FBLN1	Human	peptidase activator activity	enables	IEA	InterPro:IPR017048	150520179		InterPro	GO_REF:0000002
FBLN1	Human	peptidase activator activity	enables	IEA	UniProtKB:Q08879\|ensembl:ENSMUSP00000054583	150520179		Ensembl	GO_REF:0000107
FBLN1	Human	protein binding	enables	IPI	UniProtKB:P29279\|UniProtKB:P48745	150520179	PMID:9927660	UniProt	PMID:9927660
FBLN1	Human	protein binding	enables	IPI	UniProtKB:P05067	150520179	PMID:11238726	UniProt	PMID:11238726
FBLN1	Human	protein binding	enables	IPI	UniProtKB:O43609\|UniProtKB:P42830\|UniProtKB:P49639\|UniProtKB:P52815\|UniProtKB:Q02548\|UniProtKB:Q02930-3\|UniProtKB:Q3LHN2\|UniProtKB:Q5BKT4\|UniProtKB:Q5T751\|UniProtKB:Q5T754\|UniProtKB:Q5T7P2\|UniProtKB:Q5T7P3\|UniProtKB:Q5TA76\|UniProtKB:Q5TCM9\|UniProtKB:Q6FHY5\|UniProtKB:Q8IUC1\|UniProtKB:Q8IWZ5\|UniProtKB:Q8IXW0\|UniProtKB:Q8N2U9\|UniProtKB:Q96FE5\|UniProtKB:Q9H9P5-5\|UniProtKB:Q9UIJ7\|UniProtKB:Q9UKJ5	150520179	PMID:32296183	IntAct	PMID:32296183
FBLN1	Human	protein binding	enables	IPI	UniProtKB:P03126\|UniProtKB:P06463\|UniProtKB:P06931\|UniProtKB:P17386	150520179	PMID:12200142	UniProt	PMID:12200142
FBLN1	Human	protein binding	enables	IPI	UniProtKB:P05067\|UniProtKB:P54252	150520179	PMID:32814053	IntAct	PMID:32814053
FBLN1	Human	protein-containing complex binding	enables	IPI	ComplexPortal:CPX-1922	150520179	PMID:7642629	UniProt	PMID:7642629

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:608180
FBLN1	Human	Carpal synostosis		IAGP		8699517		HPO	MIM:608180
FBLN1	Human	Cerebral cortical atrophy		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Choroidal neovascularization		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Congenital bilateral hip dislocation		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Delayed ability to walk		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Delayed speech and language development		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Drooling		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Dysarthria		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Dystonia		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Infantile spasms		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Intellectual disability, moderate		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Macular degeneration		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Metacarpal synostosis		IAGP		8699517		HPO	MIM:608180
FBLN1	Human	Metatarsal synostosis		IAGP		8699517		HPO	MIM:608180
FBLN1	Human	Motor delay		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Nonprogressive encephalopathy		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Polydactyly		IAGP		8699517		HPO	MIM:608180
FBLN1	Human	Pseudobulbar signs		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Spastic tetraparesis		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Syndactyly		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Syringomyelia		IAGP		8699517		HPO	ORPHA:404451
FBLN1	Human	Tarsal synostosis		IAGP		8699517		HPO	MIM:608180
FBLN1	Human	Toe syndactyly		IAGP		8699517		HPO	MIM:608180

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBLN1	Human	Arthrogryposis multiplex congenita		IAGP	RGD:15040444	8554872	ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	ClinVar	PMID:25741868\|PMID:28492532\|PMID:31680123
FBLN1	Human	Fetal akinesia sequence		IAGP	RGD:15040444	8554872	ClinVar Annotator: match by term: Fetal akinesia sequence	ClinVar	PMID:25741868\|PMID:28492532\|PMID:31680123
FBLN1	Human	Intellectual disability		IAGP	RGD:42723451	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6.	Age-related changes of cardiac gene expression following myocardial ischemia/reperfusion.	Simkhovich BZ, etal., Arch Biochem Biophys. 2003 Dec 15;420(2):268-78.

PMID:1400330	PMID:2269669	PMID:2527614	PMID:7500359	PMID:7534784	PMID:7642629	PMID:7806231	PMID:7842734	PMID:8175920	PMID:8354280	PMID:8552629	PMID:8737292
PMID:8839849	PMID:8889548	PMID:9106159	PMID:9278415	PMID:9299350	PMID:9393974	PMID:9466671	PMID:9811350	PMID:9927660	PMID:10037144	PMID:10318851	PMID:10400671
PMID:10544250	PMID:10591208	PMID:11238726	PMID:11792823	PMID:11829738	PMID:11836357	PMID:11846885	PMID:11850827	PMID:12122015	PMID:12200142	PMID:12477932	PMID:12644824
PMID:12912698	PMID:14635206	PMID:14691454	PMID:14702039	PMID:14718574	PMID:15231748	PMID:15489334	PMID:15498874	PMID:15528301	PMID:15774544	PMID:15990087	PMID:16061471
PMID:16169070	PMID:16303743	PMID:16713569	PMID:17062666	PMID:17353931	PMID:18029348	PMID:18222970	PMID:18985039	PMID:19109427	PMID:19609566	PMID:19693531	PMID:20098615
PMID:20360068	PMID:20379614	PMID:20405022	PMID:20451270	PMID:20551380	PMID:20716560	PMID:20967215	PMID:21078624	PMID:21268132	PMID:21653829	PMID:21888404	PMID:21926180
PMID:21988832	PMID:22349089	PMID:22365631	PMID:22528093	PMID:23294625	PMID:23376485	PMID:23391467	PMID:23533145	PMID:23866070	PMID:23907575	PMID:24084572	PMID:24739800
PMID:25014213	PMID:25037231	PMID:25234557	PMID:25331251	PMID:25456503	PMID:25464930	PMID:25661773	PMID:25834989	PMID:26186194	PMID:26631026	PMID:26687681	PMID:26779638
PMID:26826315	PMID:27068509	PMID:27402846	PMID:27422995	PMID:27911324	PMID:28068900	PMID:28079882	PMID:28282800	PMID:28327460	PMID:28333958	PMID:28445604	PMID:28514442
PMID:28675934	PMID:29117863	PMID:29150431	PMID:29226648	PMID:29568061	PMID:29715435	PMID:29791485	PMID:29867203	PMID:29872149	PMID:29940241	PMID:30026490	PMID:31343988
PMID:31376183	PMID:31663514	PMID:32296183	PMID:32814053	PMID:33106982	PMID:33470885	PMID:33610427	PMID:33961781	PMID:34238097	PMID:35127942	PMID:35153187	PMID:35271311
PMID:35563538	PMID:35696571	PMID:36369321	PMID:36897256	PMID:36949045	PMID:37059927	PMID:37820061	PMID:38113892	PMID:38353178	PMID:39238192

FBLN1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	45,502,883 - 45,601,135 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	45,502,238 - 45,601,135 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	45,898,763 - 45,997,015 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	44,277,383 - 44,375,678 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	44,219,255 - 44,275,128	NCBI
Celera	22	29,809,689 - 29,909,644 (+)	NCBI		Celera
Cytogenetic Map	22	q13.31	NCBI
HuRef	22	28,859,953 - 28,942,412 (+)	NCBI		HuRef
CHM1_1	22	45,857,451 - 45,955,744 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	45,987,730 - 46,085,865 (+)	NCBI		T2T-CHM13v2.0

Fbln1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	85,090,150 - 85,170,495 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	85,090,150 - 85,170,736 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	85,205,949 - 85,286,294 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	85,205,949 - 85,286,535 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	85,036,438 - 85,116,724 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	85,033,777 - 85,113,422 (+)	NCBI		MGSCv36	mm8
Celera	15	87,331,933 - 87,412,210 (+)	NCBI		Celera
Cytogenetic Map	15	E2	NCBI
cM Map	15	40.27	NCBI

Fbln1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	118,190,347 - 118,269,965 (+)	NCBI		GRCr8
mRatBN7.2	7	116,310,582 - 116,390,075 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	116,310,582 - 116,390,075 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	118,061,437 - 118,140,654 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	120,287,178 - 120,366,397 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	120,256,616 - 120,335,836 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	126,096,793 - 126,176,468 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	126,096,793 - 126,176,468 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	125,810,696 - 125,890,371 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	123,208,154 - 123,287,289 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	123,242,385 - 123,321,516 (+)	NCBI
Celera	7	112,608,514 - 112,687,953 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Fbln1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	29,837,134 - 29,912,222 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	29,837,134 - 29,911,313 (+)	NCBI	ChiLan1.0	ChiLan1.0

FBLN1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	23	55,327,942 - 55,426,786 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	58,026,827 - 58,125,277 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	26,390,379 - 26,488,737 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	44,583,632 - 44,666,696 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	44,582,843 - 44,666,011 (+)	Ensembl	panpan1.1		panPan2

FBLN1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	20,498,097 - 20,564,776 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	20,498,567 - 20,627,836 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	20,418,944 - 20,535,831 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	21,232,145 - 21,315,719 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	21,232,148 - 21,315,848 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	20,951,205 - 21,068,293 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	21,264,132 - 21,382,166 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	21,444,929 - 21,562,250 (-)	NCBI		UU_Cfam_GSD_1.0

Fbln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	4,170,186 - 4,231,513 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936629	4,170,817 - 4,242,103 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936629	4,170,186 - 4,242,100 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FBLN1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	3,839,502 - 3,927,183 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	3,839,498 - 3,927,178 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	1,071,068 - 1,158,743 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FBLN1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	19	27,962,669 - 28,061,356 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	27,962,642 - 28,061,364 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	97,273,345 - 97,370,894 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fbln1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624752	4,109,478 - 4,190,066 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	4,109,478 - 4,189,987 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in FBLN1
247 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006486.3(FBLN1):c.1082C>T (p.Ala361Val)	single nucleotide variant	not provided [RCV000728913]\|not specified [RCV004026959]	Chr22:45542170 [GRCh38] Chr22:45938050 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	copy number loss	See cases [RCV000050935]	Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|See cases [RCV000051370]	Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	copy number loss	See cases [RCV000051371]	Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	copy number loss	See cases [RCV000051407]	Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	copy number loss	See cases [RCV000051408]	Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1	copy number loss	See cases [RCV000051409]	Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	copy number loss	See cases [RCV000051410]	Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	copy number gain	See cases [RCV000051686]	Chr22:42599757..50725241 [GRCh38] Chr22:42995763..51163669 [GRCh37] Chr22:41325707..49510535 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	copy number gain	See cases [RCV000051687]	Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|See cases [RCV000051688]	Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	copy number gain	See cases [RCV000051689]	Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
NM_006486.3(FBLN1):c.72G>A (p.Ala24=)	single nucleotide variant	not provided [RCV000959697]\|not specified [RCV000173405]	Chr22:45503057 [GRCh38] Chr22:45898937 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe)	single nucleotide variant	Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects [RCV000054444]\|not provided [RCV000128616]	Chr22:45542278 [GRCh38] Chr22:45938158 [GRCh37] Chr22:22q13.31	pathogenic\|uncertain significance
NM_006486.2(FBLN1):c.2011C>T (p.His671Tyr)	single nucleotide variant	Malignant melanoma [RCV000072997]	Chr22:45600345 [GRCh38] Chr22:45996225 [GRCh37] Chr22:44374889 [NCBI36] Chr22:22q13.31	not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
NM_006486.3(FBLN1):c.1441+9G>A	single nucleotide variant	FBLN1-related disorder [RCV003917615]\|not provided [RCV000967803]\|not specified [RCV000174353]	Chr22:45547213 [GRCh38] Chr22:45943093 [GRCh37] Chr22:22q13.31	benign\|likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	copy number loss	See cases [RCV000133865]	Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	copy number loss	See cases [RCV000135444]	Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	copy number gain	See cases [RCV000135528]	Chr22:42197923..47305564 [GRCh38] Chr22:42593929..47701314 [GRCh37] Chr22:40923873..46079978 [NCBI36] Chr22:22q13.2-13.31	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	copy number gain	See cases [RCV000136573]	Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	copy number gain	See cases [RCV000136124]	Chr22:43992879..50683114 [GRCh38] Chr22:44388759..51121542 [GRCh37] Chr22:42720092..49468408 [NCBI36] Chr22:22q13.31-13.33	benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	copy number loss	See cases [RCV000136921]	Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	copy number gain	See cases [RCV000137136]	Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	copy number loss	See cases [RCV000136894]	Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	copy number loss	See cases [RCV000136786]	Chr22:42493445..50268479 [GRCh38] Chr22:42889451..50706908 [GRCh37] Chr22:41219395..49049035 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	copy number loss	See cases [RCV000138217]	Chr22:45445795..47832195 [GRCh38] Chr22:45841676..48227944 [GRCh37] Chr22:44220340..46606608 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	copy number loss	See cases [RCV000141415]	Chr22:42837094..50735806 [GRCh38] Chr22:43233100..51174234 [GRCh37] Chr22:41563044..49521100 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	copy number loss	See cases [RCV000140901]	Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	copy number gain	See cases [RCV000141659]	Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	copy number gain	See cases [RCV000142755]	Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	copy number gain	See cases [RCV000143486]	Chr22:44832749..46353315 [GRCh38] Chr22:45228629..46749212 [GRCh37] Chr22:43607293..45127876 [NCBI36] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	copy number loss	Phelan-McDermid syndrome [RCV000767745]	Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_006486.3(FBLN1):c.353C>T (p.Ala118Val)	single nucleotide variant	not provided [RCV000178271]	Chr22:45527878 [GRCh38] Chr22:45923758 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.279G>T (p.Thr93=)	single nucleotide variant	not provided [RCV000177258]	Chr22:45525636 [GRCh38] Chr22:45921516 [GRCh37] Chr22:22q13.31	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	copy number loss	not provided [RCV000767746]	Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=)	single nucleotide variant	FBLN1-related disorder [RCV003957426]\|not provided [RCV000892721]\|not specified [RCV000388018]	Chr22:45543414 [GRCh38] Chr22:45939294 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=)	single nucleotide variant	not provided [RCV000285543]	Chr22:45542162 [GRCh38] Chr22:45938042 [GRCh37] Chr22:22q13.31	conflicting interpretations of pathogenicity\|uncertain significance
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)	single nucleotide variant	FBLN1-related disorder [RCV004757190]\|not provided [RCV000260006]	Chr22:45525643 [GRCh38] Chr22:45921523 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met)	single nucleotide variant	FBLN1-related disorder [RCV003967763]\|not provided [RCV000327379]\|not specified [RCV004021215]	Chr22:45541318 [GRCh38] Chr22:45937198 [GRCh37] Chr22:22q13.31	likely benign\|uncertain significance
NM_006486.3(FBLN1):c.268C>T (p.Arg90Cys)	single nucleotide variant	not provided [RCV000295456]	Chr22:45525625 [GRCh38] Chr22:45921505 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1684C>T (p.Arg562Cys)	single nucleotide variant	not provided [RCV000402873]	Chr22:45550602 [GRCh38] Chr22:45946482 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu)	single nucleotide variant	FBLN1-related disorder [RCV003920075]\|not provided [RCV002059151]\|not specified [RCV000298703]	Chr22:45577061 [GRCh38] Chr22:45972941 [GRCh37] Chr22:22q13.31	benign\|likely benign\|uncertain significance
NM_006486.3(FBLN1):c.992C>A (p.Ser331Tyr)	single nucleotide variant	not provided [RCV000598300]	Chr22:45541298 [GRCh38] Chr22:45937178 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=)	single nucleotide variant	FBLN1-related disorder [RCV003945448]\|not provided [RCV002532665]\|not specified [RCV000592482]	Chr22:45550580 [GRCh38] Chr22:45946460 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.1441+5G>A	single nucleotide variant	not provided [RCV000593725]	Chr22:45547209 [GRCh38] Chr22:45943089 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.2084A>G (p.His695Arg)	single nucleotide variant	not provided [RCV002067161]\|not specified [RCV000734006]	Chr22:45600418 [GRCh38] Chr22:45996298 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.309C>G (p.Ala103=)	single nucleotide variant	not provided [RCV000734783]	Chr22:45525666 [GRCh38] Chr22:45921546 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31(chr22:45769244-46630634)x1	copy number loss	See cases [RCV000446891]	Chr22:45769244..46630634 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	copy number loss	See cases [RCV000512121]	Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	copy number loss	See cases [RCV000511220]	Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	copy number loss	See cases [RCV000511256]	Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	copy number loss	See cases [RCV000510765]	Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	copy number loss	See cases [RCV000511015]	Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_006486.3(FBLN1):c.1498A>G (p.Asn500Asp)	single nucleotide variant	not specified [RCV004299138]	Chr22:45548669 [GRCh38] Chr22:45944549 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1973-12C>G	single nucleotide variant	not specified [RCV000616511]	Chr22:45600295 [GRCh38] Chr22:45996175 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	copy number loss	not provided [RCV000684525]	Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	copy number loss	not provided [RCV000684526]	Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	copy number loss	not provided [RCV000684527]	Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	copy number loss	not provided [RCV000684528]	Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_006486.3(FBLN1):c.1573+327C>A	single nucleotide variant	not provided [RCV001540719]	Chr22:45549071 [GRCh38] Chr22:45944951 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1	copy number loss	not provided [RCV000741989]	Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_006486.3(FBLN1):c.1066+132G>A	single nucleotide variant	not provided [RCV001707127]	Chr22:45541504 [GRCh38] Chr22:45937384 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.186-215T>G	single nucleotide variant	not provided [RCV001669328]	Chr22:45525328 [GRCh38] Chr22:45921208 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.2040T>C (p.Tyr680=)	single nucleotide variant	not provided [RCV000962895]	Chr22:45600374 [GRCh38] Chr22:45996254 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1841-306A>G	single nucleotide variant	not provided [RCV001680490]	Chr22:45576671 [GRCh38] Chr22:45972551 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.646+146C>T	single nucleotide variant	not provided [RCV001612835]	Chr22:45533310 [GRCh38] Chr22:45929190 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1698-11350C>T	single nucleotide variant	not provided [RCV000762080]	Chr22:45563161 [GRCh38] Chr22:45959041 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.322-293C>T	single nucleotide variant	not provided [RCV001691106]	Chr22:45527554 [GRCh38] Chr22:45923434 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.321+309G>C	single nucleotide variant	not provided [RCV001612885]	Chr22:45525987 [GRCh38] Chr22:45921867 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1459C>T (p.Leu487=)	single nucleotide variant	not provided [RCV000902375]	Chr22:45548630 [GRCh38] Chr22:45944510 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.923-7G>A	single nucleotide variant	not provided [RCV000966103]	Chr22:45541222 [GRCh38] Chr22:45937102 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.957C>T (p.Cys319=)	single nucleotide variant	not provided [RCV000966104]	Chr22:45541263 [GRCh38] Chr22:45937143 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1368C>T (p.Asn456=)	single nucleotide variant	not provided [RCV000882489]	Chr22:45547131 [GRCh38] Chr22:45943011 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.922+6A>C	single nucleotide variant	FBLN1-related disorder [RCV003967960]\|not provided [RCV000879203]	Chr22:45535343 [GRCh38] Chr22:45931223 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.312A>G (p.Thr104=)	single nucleotide variant	not provided [RCV000970930]	Chr22:45525669 [GRCh38] Chr22:45921549 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.87G>A (p.Ala29=)	single nucleotide variant	not provided [RCV000902305]	Chr22:45518689 [GRCh38] Chr22:45914569 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
NM_006486.3(FBLN1):c.1866G>A (p.Thr622=)	single nucleotide variant	FBLN1-related disorder [RCV003913142]\|not provided [RCV000929250]	Chr22:45577002 [GRCh38] Chr22:45972882 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.185+4C>T	single nucleotide variant	not provided [RCV000969753]	Chr22:45518791 [GRCh38] Chr22:45914671 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1872G>A (p.Pro624=)	single nucleotide variant	not provided [RCV000962894]	Chr22:45577008 [GRCh38] Chr22:45972888 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1120G>A (p.Val374Met)	single nucleotide variant	not provided [RCV000908968]	Chr22:45542208 [GRCh38] Chr22:45938088 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln)	single nucleotide variant	Fetal akinesia deformation sequence 1 [RCV000855496]\|not provided [RCV005092536]	Chr22:45600325 [GRCh38] Chr22:45996205 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
Single allele	copy number loss	22q13.3 interstitial deletion [RCV001200047]	Chr22:44850001..50850001 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.1990C>G (p.Arg664Gly)	single nucleotide variant	not specified [RCV004286443]	Chr22:45600324 [GRCh38] Chr22:45996204 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1456G>A (p.Ala486Thr)	single nucleotide variant	not specified [RCV004291981]	Chr22:45548627 [GRCh38] Chr22:45944507 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.963C>T (p.Ile321=)	single nucleotide variant	Synpolydactyly type 2 [RCV001702936]\|not provided [RCV001621249]	Chr22:45541269 [GRCh38] Chr22:45937149 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1973-78C>T	single nucleotide variant	not provided [RCV001654115]	Chr22:45600229 [GRCh38] Chr22:45996109 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.647-64T>C	single nucleotide variant	not provided [RCV001690868]	Chr22:45533697 [GRCh38] Chr22:45929577 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1973-319C>G	single nucleotide variant	not provided [RCV001638392]	Chr22:45599988 [GRCh38] Chr22:45995868 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.544+259A>C	single nucleotide variant	not provided [RCV001639171]	Chr22:45531583 [GRCh38] Chr22:45927463 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.185+8T>C	single nucleotide variant	not provided [RCV001710183]	Chr22:45518795 [GRCh38] Chr22:45914675 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.485-33A>G	single nucleotide variant	not provided [RCV001639712]	Chr22:45531232 [GRCh38] Chr22:45927112 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1973-221T>C	single nucleotide variant	not provided [RCV001689065]	Chr22:45600086 [GRCh38] Chr22:45995966 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.545-281C>T	single nucleotide variant	not provided [RCV001682331]	Chr22:45532782 [GRCh38] Chr22:45928662 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1442-322C>T	single nucleotide variant	not provided [RCV001611637]	Chr22:45548291 [GRCh38] Chr22:45944171 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1697+119G>C	single nucleotide variant	not provided [RCV001639949]	Chr22:45550734 [GRCh38] Chr22:45946614 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1698-11706G>A	single nucleotide variant	not provided [RCV001652562]	Chr22:45562805 [GRCh38] Chr22:45958685 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.2046C>T (p.Val682=)	single nucleotide variant	not provided [RCV000909779]	Chr22:45600380 [GRCh38] Chr22:45996260 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1542C>T (p.Tyr514=)	single nucleotide variant	not provided [RCV000892774]	Chr22:45548713 [GRCh38] Chr22:45944593 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr)	single nucleotide variant	Synpolydactyly type 2 [RCV002489423]\|not provided [RCV000973631]	Chr22:45550608 [GRCh38] Chr22:45946488 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.484+5C>A	single nucleotide variant	not provided [RCV000955992]	Chr22:45528014 [GRCh38] Chr22:45923894 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.30C>A (p.Val10=)	single nucleotide variant	not provided [RCV000933969]	Chr22:45503015 [GRCh38] Chr22:45898895 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1066+126C>T	single nucleotide variant	not provided [RCV001621037]	Chr22:45541498 [GRCh38] Chr22:45937378 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.484+223T>C	single nucleotide variant	not provided [RCV001637633]	Chr22:45528232 [GRCh38] Chr22:45924112 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.322-102G>C	single nucleotide variant	not provided [RCV001596686]	Chr22:45527745 [GRCh38] Chr22:45923625 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	copy number loss	not provided [RCV002473583]	Chr22:44390702..51137629 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.1973-77A>G	single nucleotide variant	not provided [RCV001720620]	Chr22:45600230 [GRCh38] Chr22:45996110 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1841-247G>A	single nucleotide variant	not provided [RCV001654566]	Chr22:45576730 [GRCh38] Chr22:45972610 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1442-224C>T	single nucleotide variant	not provided [RCV001720692]	Chr22:45548389 [GRCh38] Chr22:45944269 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1441+208_1441+209del	deletion	not provided [RCV001695783]	Chr22:45547387..45547388 [GRCh38] Chr22:45943267..45943268 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.484+116dup	duplication	not provided [RCV001687354]	Chr22:45528121..45528122 [GRCh38] Chr22:45924001..45924002 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.321+325C>T	single nucleotide variant	not provided [RCV001618733]	Chr22:45526003 [GRCh38] Chr22:45921883 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.544+244G>A	single nucleotide variant	not provided [RCV001618885]	Chr22:45531568 [GRCh38] Chr22:45927448 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.322-307G>A	single nucleotide variant	not provided [RCV001657642]	Chr22:45527540 [GRCh38] Chr22:45923420 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1697+7239G>A	single nucleotide variant	not provided [RCV001657333]	Chr22:45557854 [GRCh38] Chr22:45953734 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.485-100T>C	single nucleotide variant	not provided [RCV001620084]	Chr22:45531165 [GRCh38] Chr22:45927045 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.484+284T>C	single nucleotide variant	not provided [RCV001616123]	Chr22:45528293 [GRCh38] Chr22:45924173 [GRCh37] Chr22:22q13.31	benign
NC_000022.11:g.45502712G>C	single nucleotide variant	not provided [RCV001621837]	Chr22:45502712 [GRCh38] Chr22:45898592 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.321+73C>T	single nucleotide variant	not provided [RCV001539135]	Chr22:45525751 [GRCh38] Chr22:45921631 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.647-44del	deletion	not provided [RCV001639428]	Chr22:45533715 [GRCh38] Chr22:45929595 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.647-293C>T	single nucleotide variant	not provided [RCV001596287]	Chr22:45533468 [GRCh38] Chr22:45929348 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.545-102G>A	single nucleotide variant	not provided [RCV001637523]	Chr22:45532961 [GRCh38] Chr22:45928841 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.784+297dup	duplication	not provided [RCV001621197]	Chr22:45534194..45534195 [GRCh38] Chr22:45930074..45930075 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1322-239G>T	single nucleotide variant	not provided [RCV001656663]	Chr22:45546846 [GRCh38] Chr22:45942726 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.545-283T>C	single nucleotide variant	not provided [RCV001670104]	Chr22:45532780 [GRCh38] Chr22:45928660 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1698-9178C>T	single nucleotide variant	not provided [RCV001684481]	Chr22:45565333 [GRCh38] Chr22:45961213 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.544+16C>G	single nucleotide variant	not provided [RCV001667723]	Chr22:45531340 [GRCh38] Chr22:45927220 [GRCh37] Chr22:22q13.31	pathogenic\|benign
NM_006486.3(FBLN1):c.545-192C>G	single nucleotide variant	not provided [RCV001614557]	Chr22:45532871 [GRCh38] Chr22:45928751 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1195+175A>G	single nucleotide variant	not provided [RCV001696272]	Chr22:45542458 [GRCh38] Chr22:45938338 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.185+25T>G	single nucleotide variant	not provided [RCV001693211]	Chr22:45518812 [GRCh38] Chr22:45914692 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.422A>G (p.Gln141Arg)	single nucleotide variant	Synpolydactyly type 2 [RCV001702191]\|not provided [RCV002073300]	Chr22:45527947 [GRCh38] Chr22:45923827 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.922+45C>T	single nucleotide variant	not provided [RCV001667110]	Chr22:45535382 [GRCh38] Chr22:45931262 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.484+205C>T	single nucleotide variant	not provided [RCV001681997]	Chr22:45528214 [GRCh38] Chr22:45924094 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.485-103G>A	single nucleotide variant	not provided [RCV001649324]	Chr22:45531162 [GRCh38] Chr22:45927042 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.185+300A>G	single nucleotide variant	not provided [RCV001666155]	Chr22:45519087 [GRCh38] Chr22:45914967 [GRCh37] Chr22:22q13.31	benign
NC_000022.11:g.45502794G>C	single nucleotide variant	not provided [RCV001652453]	Chr22:45502794 [GRCh38] Chr22:45898674 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1441+209dup	duplication	not provided [RCV001696625]	Chr22:45547386..45547387 [GRCh38] Chr22:45943266..45943267 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1697+7534G>A	single nucleotide variant	not provided [RCV001683887]	Chr22:45558149 [GRCh38] Chr22:45954029 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1697+7783G>A	single nucleotide variant	not provided [RCV001709261]	Chr22:45558398 [GRCh38] Chr22:45954278 [GRCh37] Chr22:22q13.31	benign
NC_000022.11:g.43032129_50739836del	deletion	Phelan-McDermid syndrome [RCV001254356]	Chr22:43032129..50739836 [GRCh38] Chr22:22q13.2-13.33	pathogenic
NC_000022.11:g.44245760_50806121del	deletion	Phelan-McDermid syndrome [RCV001254369]	Chr22:44245760..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln)	single nucleotide variant	Synpolydactyly type 2 [RCV001332774]\|not specified [RCV004917686]	Chr22:45503017 [GRCh38] Chr22:45898897 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.483G>A (p.Thr161=)	single nucleotide variant	not provided [RCV004598799]	Chr22:45528008 [GRCh38] Chr22:45923888 [GRCh37] Chr22:22q13.31	likely benign
Single allele	deletion	Intellectual disability [RCV001293376]	Chr22:42333802..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_006486.3(FBLN1):c.80-101G>A	single nucleotide variant	not provided [RCV001538713]	Chr22:45518581 [GRCh38] Chr22:45914461 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.545-197A>C	single nucleotide variant	not provided [RCV001653178]	Chr22:45532866 [GRCh38] Chr22:45928746 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.2079C>T (p.Asn693=)	single nucleotide variant	not provided [RCV001671035]	Chr22:45600413 [GRCh38] Chr22:45996293 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.923-48G>A	single nucleotide variant	not provided [RCV001715015]	Chr22:45541181 [GRCh38] Chr22:45937061 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1441+119A>G	single nucleotide variant	not provided [RCV001679684]	Chr22:45547323 [GRCh38] Chr22:45943203 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.646+156T>C	single nucleotide variant	not provided [RCV001666903]	Chr22:45533320 [GRCh38] Chr22:45929200 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.647-27C>T	single nucleotide variant	not provided [RCV001645771]	Chr22:45533734 [GRCh38] Chr22:45929614 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1698-11054C>T	single nucleotide variant	not provided [RCV001688598]	Chr22:45563457 [GRCh38] Chr22:45959337 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.485-265G>A	single nucleotide variant	not provided [RCV001687164]	Chr22:45531000 [GRCh38] Chr22:45926880 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.80-21C>T	single nucleotide variant	not provided [RCV001671359]	Chr22:45518661 [GRCh38] Chr22:45914541 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.647-250G>A	single nucleotide variant	not provided [RCV001671951]	Chr22:45533511 [GRCh38] Chr22:45929391 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.186-64G>A	single nucleotide variant	not provided [RCV001691578]	Chr22:45525479 [GRCh38] Chr22:45921359 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1441+209del	deletion	not provided [RCV001617378]	Chr22:45547387 [GRCh38] Chr22:45943267 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.185+276_185+277insCTCTGCCACAGCTGGGCAGCTG	insertion	not provided [RCV001539916]	Chr22:45519056..45519057 [GRCh38] Chr22:45914936..45914937 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.647-214A>C	single nucleotide variant	not provided [RCV001536916]	Chr22:45533547 [GRCh38] Chr22:45929427 [GRCh37] Chr22:22q13.31	benign
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	copy number loss	Phelan-McDermid syndrome [RCV001801178]	Chr22:42321321..51244066 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	copy number loss	not specified [RCV002052757]	Chr22:42972719..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	copy number loss	not specified [RCV002052758]	Chr22:43451316..46662660 [GRCh37] Chr22:22q13.2-13.31	pathogenic
NM_006486.3(FBLN1):c.89A>G (p.Asp30Gly)	single nucleotide variant	not provided [RCV002039843]	Chr22:45518691 [GRCh38] Chr22:45914571 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.240G>A (p.Thr80=)	single nucleotide variant	not provided [RCV001903326]	Chr22:45525597 [GRCh38] Chr22:45921477 [GRCh37] Chr22:22q13.31	likely benign\|uncertain significance
NM_006486.3(FBLN1):c.62C>T (p.Ala21Val)	single nucleotide variant	not provided [RCV002036120]	Chr22:45503047 [GRCh38] Chr22:45898927 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.490A>G (p.Ile164Val)	single nucleotide variant	FBLN1-related disorder [RCV003948879]\|not provided [RCV002049681]	Chr22:45531270 [GRCh38] Chr22:45927150 [GRCh37] Chr22:22q13.31	likely benign\|uncertain significance
NM_006486.3(FBLN1):c.378C>T (p.Cys126=)	single nucleotide variant	not provided [RCV002031178]	Chr22:45527903 [GRCh38] Chr22:45923783 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1685G>A (p.Arg562His)	single nucleotide variant	Synpolydactyly type 2 [RCV003146487]\|not provided [RCV002029655]	Chr22:45550603 [GRCh38] Chr22:45946483 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1490G>A (p.Arg497His)	single nucleotide variant	not provided [RCV001989904]\|not specified [RCV004043939]	Chr22:45548661 [GRCh38] Chr22:45944541 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.2047G>A (p.Gly683Arg)	single nucleotide variant	not provided [RCV001937608]	Chr22:45600381 [GRCh38] Chr22:45996261 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1973-5C>A	single nucleotide variant	not provided [RCV001937633]	Chr22:45600302 [GRCh38] Chr22:45996182 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.922+14C>T	single nucleotide variant	not provided [RCV002126662]	Chr22:45535351 [GRCh38] Chr22:45931231 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1011C>T (p.Asn337=)	single nucleotide variant	not provided [RCV002088194]	Chr22:45541317 [GRCh38] Chr22:45937197 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.422= (p.Gln141=)	variation	not provided [RCV002170208]	Chr22:45527947 [GRCh38] Chr22:45923827 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1973-5C>T	single nucleotide variant	FBLN1-related disorder [RCV003923498]\|not provided [RCV002185043]	Chr22:45600302 [GRCh38] Chr22:45996182 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.1697C>T (p.Thr566Met)	single nucleotide variant	FBLN1-related disorder [RCV003911183]\|not provided [RCV002087364]	Chr22:45550615 [GRCh38] Chr22:45946495 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.450C>T (p.Thr150=)	single nucleotide variant	FBLN1-related disorder [RCV003911168]\|not provided [RCV002097162]	Chr22:45527975 [GRCh38] Chr22:45923855 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.687T>C (p.Leu229=)	single nucleotide variant	not provided [RCV002174904]	Chr22:45533801 [GRCh38] Chr22:45929681 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1173C>T (p.Asp391=)	single nucleotide variant	not provided [RCV002174422]	Chr22:45542261 [GRCh38] Chr22:45938141 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.2025G>A (p.Lys675=)	single nucleotide variant	not provided [RCV002083352]	Chr22:45600359 [GRCh38] Chr22:45996239 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.185+17C>T	single nucleotide variant	not provided [RCV002178893]	Chr22:45518804 [GRCh38] Chr22:45914684 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1949G>A (p.Arg650His)	single nucleotide variant	Synpolydactyly type 2 [RCV004787204]	Chr22:45577085 [GRCh38] Chr22:45972965 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	copy number loss	not provided [RCV002472623]	Chr22:44178749..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	copy number loss	not provided [RCV002472642]	Chr22:45977448..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	copy number loss	not provided [RCV002473520]	Chr22:45889148..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	copy number gain	not provided [RCV002468433]	Chr22:43436847..51188164 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	copy number loss	not provided [RCV002472654]	Chr22:45977415..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.2080G>A (p.Val694Ile)	single nucleotide variant	not provided [RCV005099463]\|not specified [RCV004079228]	Chr22:45600414 [GRCh38] Chr22:45996294 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.304G>A (p.Glu102Lys)	single nucleotide variant	not provided [RCV003015397]	Chr22:45525661 [GRCh38] Chr22:45921541 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1856G>A (p.Arg619Gln)	single nucleotide variant	not specified [RCV004104075]	Chr22:45576992 [GRCh38] Chr22:45972872 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.79+19C>T	single nucleotide variant	not provided [RCV002755894]	Chr22:45503083 [GRCh38] Chr22:45898963 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1147G>A (p.Glu383Lys)	single nucleotide variant	not specified [RCV004175011]	Chr22:45542235 [GRCh38] Chr22:45938115 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.604T>A (p.Phe202Ile)	single nucleotide variant	not specified [RCV004166753]	Chr22:45533122 [GRCh38] Chr22:45929002 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.86C>T (p.Ala29Val)	single nucleotide variant	not specified [RCV004135080]	Chr22:45518688 [GRCh38] Chr22:45914568 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1202A>G (p.Asn401Ser)	single nucleotide variant	not provided [RCV002871297]	Chr22:45543407 [GRCh38] Chr22:45939287 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1308C>G (p.Gly436=)	single nucleotide variant	not provided [RCV002592349]	Chr22:45543513 [GRCh38] Chr22:45939393 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.2018T>C (p.Val673Ala)	single nucleotide variant	not provided [RCV002695573]	Chr22:45600352 [GRCh38] Chr22:45996232 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1832G>A (p.Arg611His)	single nucleotide variant	not specified [RCV004082559]	Chr22:45574645 [GRCh38] Chr22:45970525 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1058G>T (p.Arg353Leu)	single nucleotide variant	not specified [RCV004184348]	Chr22:45541364 [GRCh38] Chr22:45937244 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1978G>A (p.Val660Met)	single nucleotide variant	not specified [RCV004134440]	Chr22:45600312 [GRCh38] Chr22:45996192 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1103G>T (p.Gly368Val)	single nucleotide variant	not specified [RCV004105985]	Chr22:45542191 [GRCh38] Chr22:45938071 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1751A>G (p.Asn584Ser)	single nucleotide variant	not specified [RCV004202359]	Chr22:45574564 [GRCh38] Chr22:45970444 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.322-17T>C	single nucleotide variant	not provided [RCV002790620]	Chr22:45527830 [GRCh38] Chr22:45923710 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.286G>T (p.Gly96Cys)	single nucleotide variant	not specified [RCV004159805]	Chr22:45525643 [GRCh38] Chr22:45921523 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1221C>T (p.Pro407=)	single nucleotide variant	FBLN1-related disorder [RCV003963404]\|not provided [RCV002917981]	Chr22:45543426 [GRCh38] Chr22:45939306 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.785-13T>C	single nucleotide variant	not provided [RCV003041133]	Chr22:45535187 [GRCh38] Chr22:45931067 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1235G>T (p.Gly412Val)	single nucleotide variant	not specified [RCV004173862]	Chr22:45543440 [GRCh38] Chr22:45939320 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1721C>T (p.Thr574Met)	single nucleotide variant	not specified [RCV004209682]	Chr22:45574534 [GRCh38] Chr22:45970414 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1322-14G>A	single nucleotide variant	not provided [RCV002800654]	Chr22:45547071 [GRCh38] Chr22:45942951 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1282G>T (p.Val428Leu)	single nucleotide variant	FBLN1-related disorder [RCV003926493]\|not provided [RCV002917898]	Chr22:45543487 [GRCh38] Chr22:45939367 [GRCh37] Chr22:22q13.31	likely benign\|uncertain significance
NM_006486.3(FBLN1):c.1642G>T (p.Gly548Cys)	single nucleotide variant	not provided [RCV003049228]	Chr22:45550560 [GRCh38] Chr22:45946440 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.74C>A (p.Ala25Asp)	single nucleotide variant	not provided [RCV002599911]\|not specified [RCV004917828]	Chr22:45503059 [GRCh38] Chr22:45898939 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1665G>A (p.Glu555=)	single nucleotide variant	not provided [RCV003028924]	Chr22:45550583 [GRCh38] Chr22:45946463 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.730C>T (p.Arg244Trp)	single nucleotide variant	not provided [RCV002630187]	Chr22:45533844 [GRCh38] Chr22:45929724 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1563C>T (p.Arg521=)	single nucleotide variant	not provided [RCV002716873]	Chr22:45548734 [GRCh38] Chr22:45944614 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1819C>T (p.Arg607Cys)	single nucleotide variant	not specified [RCV004163549]	Chr22:45574632 [GRCh38] Chr22:45970512 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.299G>C (p.Ser100Thr)	single nucleotide variant	not specified [RCV004168835]	Chr22:45525656 [GRCh38] Chr22:45921536 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1240A>C (p.Lys414Gln)	single nucleotide variant	not specified [RCV004153169]	Chr22:45543445 [GRCh38] Chr22:45939325 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1891A>G (p.Asn631Asp)	single nucleotide variant	not specified [RCV004194165]	Chr22:45577027 [GRCh38] Chr22:45972907 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1375G>A (p.Gly459Ser)	single nucleotide variant	not specified [RCV004101414]	Chr22:45547138 [GRCh38] Chr22:45943018 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.785-6T>C	single nucleotide variant	not provided [RCV002633851]	Chr22:45535194 [GRCh38] Chr22:45931074 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1703A>G (p.Gln568Arg)	single nucleotide variant	not specified [RCV004261085]	Chr22:45574516 [GRCh38] Chr22:45970396 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.466G>C (p.Gly156Arg)	single nucleotide variant	not specified [RCV004276291]	Chr22:45527991 [GRCh38] Chr22:45923871 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.2092G>A (p.Val698Ile)	single nucleotide variant	not specified [RCV004261346]	Chr22:45600426 [GRCh38] Chr22:45996306 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe)	single nucleotide variant	not specified [RCV004323972]	Chr22:45600430 [GRCh38] Chr22:45996310 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.113C>T (p.Ala38Val)	single nucleotide variant	not specified [RCV004331682]	Chr22:45518715 [GRCh38] Chr22:45914595 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.451G>A (p.Gly151Arg)	single nucleotide variant	Synpolydactyly type 2 [RCV003340712]	Chr22:45527976 [GRCh38] Chr22:45923856 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1957G>A (p.Asp653Asn)	single nucleotide variant	not provided [RCV003730542]\|not specified [RCV004338111]	Chr22:45577093 [GRCh38] Chr22:45972973 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1770C>A (p.Phe590Leu)	single nucleotide variant	not specified [RCV004359019]	Chr22:45574583 [GRCh38] Chr22:45970463 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.482C>T (p.Thr161Met)	single nucleotide variant	not specified [RCV004346094]	Chr22:45528007 [GRCh38] Chr22:45923887 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	copy number loss	not provided [RCV003483399]	Chr22:45611226..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	copy number gain	not provided [RCV003485247]	Chr22:45657164..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.2100G>A (p.Glu700=)	single nucleotide variant	not provided [RCV003437648]	Chr22:45600434 [GRCh38] Chr22:45996314 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.79+13C>G	single nucleotide variant	not provided [RCV003880290]	Chr22:45503077 [GRCh38] Chr22:45898957 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1698-9527G>T	single nucleotide variant	FBLN1-related disorder [RCV003929121]\|not provided [RCV003437647]	Chr22:45564984 [GRCh38] Chr22:45960864 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.1292G>A (p.Arg431Gln)	single nucleotide variant	not provided [RCV003437645]\|not specified [RCV004917846]	Chr22:45543497 [GRCh38] Chr22:45939377 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1321+6G>C	single nucleotide variant	not provided [RCV003437646]	Chr22:45543532 [GRCh38] Chr22:45939412 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	copy number loss	not provided [RCV003457366]	Chr22:43820992..51218654 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_006486.3(FBLN1):c.1698-11349G>A	single nucleotide variant	not provided [RCV003433292]	Chr22:45563162 [GRCh38] Chr22:45959042 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.321+6A>G	single nucleotide variant	not provided [RCV003433290]	Chr22:45525684 [GRCh38] Chr22:45921564 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1698-11500G>A	single nucleotide variant	not provided [RCV003433291]	Chr22:45563011 [GRCh38] Chr22:45958891 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.74C>T (p.Ala25Val)	single nucleotide variant	not provided [RCV003696178]	Chr22:45503059 [GRCh38] Chr22:45898939 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1449C>T (p.Asp483=)	single nucleotide variant	not provided [RCV003879972]	Chr22:45548620 [GRCh38] Chr22:45944500 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.784+11C>T	single nucleotide variant	not provided [RCV003811271]	Chr22:45533909 [GRCh38] Chr22:45929789 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1369G>A (p.Val457Ile)	single nucleotide variant	FBLN1-related disorder [RCV003939109]\|not provided [RCV003579729]	Chr22:45547132 [GRCh38] Chr22:45943012 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.2016C>T (p.Ala672=)	single nucleotide variant	not provided [RCV003817335]	Chr22:45600350 [GRCh38] Chr22:45996230 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.58C>T (p.Leu20Phe)	single nucleotide variant	not provided [RCV003836202]	Chr22:45503043 [GRCh38] Chr22:45898923 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1321+12del	deletion	not provided [RCV003717343]	Chr22:45543535 [GRCh38] Chr22:45939415 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1797C>T (p.Thr599=)	single nucleotide variant	not provided [RCV003717404]	Chr22:45574610 [GRCh38] Chr22:45970490 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1468G>A (p.Gly490Arg)	single nucleotide variant	not provided [RCV003839729]	Chr22:45548639 [GRCh38] Chr22:45944519 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1119C>T (p.Cys373=)	single nucleotide variant	not provided [RCV003724334]	Chr22:45542207 [GRCh38] Chr22:45938087 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.152C>T (p.Ser51Leu)	single nucleotide variant	not provided [RCV003836559]\|not specified [RCV004366871]	Chr22:45518754 [GRCh38] Chr22:45914634 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1494C>T (p.Cys498=)	single nucleotide variant	not provided [RCV003861102]	Chr22:45548665 [GRCh38] Chr22:45944545 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.661A>G (p.Ile221Val)	single nucleotide variant	not provided [RCV003819459]	Chr22:45533775 [GRCh38] Chr22:45929655 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.975C>T (p.Cys325=)	single nucleotide variant	not provided [RCV003858873]	Chr22:45541281 [GRCh38] Chr22:45937161 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	copy number loss	not specified [RCV003986178]	Chr22:44034281..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_006486.3(FBLN1):c.1697+7447C>T	single nucleotide variant	FBLN1-related disorder [RCV003939326]	Chr22:45558062 [GRCh38] Chr22:45953942 [GRCh37] Chr22:22q13.31	likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	copy number loss	not specified [RCV003986180]	Chr22:43107363..51156692 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	copy number loss	not specified [RCV003986192]	Chr22:43920110..46548382 [GRCh37] Chr22:22q13.2-13.31	likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	copy number loss	not specified [RCV003986171]	Chr22:44502872..51183871 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.79+14G>C	single nucleotide variant	not provided [RCV003872374]	Chr22:45503078 [GRCh38] Chr22:45898958 [GRCh37] Chr22:22q13.31	likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	copy number loss	Phelan-McDermid syndrome [RCV003986080]	Chr22:44549957..50789329 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.1146C>T (p.Cys382=)	single nucleotide variant	FBLN1-related disorder [RCV003941365]	Chr22:45542234 [GRCh38] Chr22:45938114 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1467C>T (p.Thr489=)	single nucleotide variant	not provided [RCV003722933]	Chr22:45548638 [GRCh38] Chr22:45944518 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.465C>T (p.Val155=)	single nucleotide variant	not provided [RCV003552466]	Chr22:45527990 [GRCh38] Chr22:45923870 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1821C>T (p.Arg607=)	single nucleotide variant	not provided [RCV003553339]	Chr22:45574634 [GRCh38] Chr22:45970514 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1674G>C (p.Glu558Asp)	single nucleotide variant	FBLN1-related disorder [RCV003919266]\|not provided [RCV003552981]	Chr22:45550592 [GRCh38] Chr22:45946472 [GRCh37] Chr22:22q13.31	benign\|likely benign
NM_006486.3(FBLN1):c.1792C>T (p.His598Tyr)	single nucleotide variant	not provided [RCV003824025]	Chr22:45574605 [GRCh38] Chr22:45970485 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1698-6C>T	single nucleotide variant	not provided [RCV003562517]	Chr22:45574505 [GRCh38] Chr22:45970385 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1698-11442C>T	single nucleotide variant	FBLN1-related disorder [RCV003947034]	Chr22:45563069 [GRCh38] Chr22:45958949 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1698-11497C>T	single nucleotide variant	FBLN1-related disorder [RCV003943861]	Chr22:45563014 [GRCh38] Chr22:45958894 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1698-11532_1698-11531del	deletion	FBLN1-related disorder [RCV003914004]	Chr22:45562979..45562980 [GRCh38] Chr22:45958859..45958860 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1698-11326C>T	single nucleotide variant	FBLN1-related disorder [RCV003923954]	Chr22:45563185 [GRCh38] Chr22:45959065 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1827C>T (p.Phe609=)	single nucleotide variant	FBLN1-related disorder [RCV003954589]	Chr22:45574640 [GRCh38] Chr22:45970520 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1080C>T (p.Cys360=)	single nucleotide variant	FBLN1-related disorder [RCV003959656]	Chr22:45542168 [GRCh38] Chr22:45938048 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1663G>A (p.Glu555Lys)	single nucleotide variant	FBLN1-related disorder [RCV003949776]	Chr22:45550581 [GRCh38] Chr22:45946461 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1698-9578G>A	single nucleotide variant	not provided [RCV004546386]	Chr22:45564933 [GRCh38] Chr22:45960813 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.79+6G>A	single nucleotide variant	FBLN1-related disorder [RCV003896913]	Chr22:45503070 [GRCh38] Chr22:45898950 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1058G>A (p.Arg353His)	single nucleotide variant	not specified [RCV004386199]	Chr22:45541364 [GRCh38] Chr22:45937244 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1682G>A (p.Arg561His)	single nucleotide variant	not specified [RCV004386201]	Chr22:45550600 [GRCh38] Chr22:45946480 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.170A>C (p.Glu57Ala)	single nucleotide variant	not specified [RCV004386202]	Chr22:45518772 [GRCh38] Chr22:45914652 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1752C>T (p.Asn584=)	single nucleotide variant	EBV-positive nodal T- and NK-cell lymphoma [RCV004560272]	Chr22:45574565 [GRCh38] Chr22:45970445 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1396C>T (p.Arg466Trp)	single nucleotide variant	not provided [RCV005104418]\|not specified [RCV004386200]	Chr22:45547159 [GRCh38] Chr22:45943039 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1910C>T (p.Thr637Met)	single nucleotide variant	not specified [RCV004386205]	Chr22:45577046 [GRCh38] Chr22:45972926 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.578C>T (p.Thr193Met)	single nucleotide variant	not specified [RCV004386207]	Chr22:45533096 [GRCh38] Chr22:45928976 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1235G>A (p.Gly412Asp)	single nucleotide variant	not specified [RCV004621025]	Chr22:45543440 [GRCh38] Chr22:45939320 [GRCh37] Chr22:22q13.31	uncertain significance
NC_000022.10:g.(?_45958792)_(46971995_?)del	deletion	not provided [RCV004579284]	Chr22:45958792..46971995 [GRCh37] Chr22:22q13.31	pathogenic
NM_006486.3(FBLN1):c.1309A>G (p.Arg437Gly)	single nucleotide variant	not specified [RCV004621027]	Chr22:45543514 [GRCh38] Chr22:45939394 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.620T>C (p.Leu207Pro)	single nucleotide variant	not specified [RCV004621023]	Chr22:45533138 [GRCh38] Chr22:45929018 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.905C>T (p.Ala302Val)	single nucleotide variant	not specified [RCV004621024]	Chr22:45535320 [GRCh38] Chr22:45931200 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1489C>T (p.Arg497Cys)	single nucleotide variant	Synpolydactyly type 2 [RCV004795521]	Chr22:45548660 [GRCh38] Chr22:45944540 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1771G>A (p.Asp591Asn)	single nucleotide variant	FBLN1-related disorder [RCV004757662]	Chr22:45574584 [GRCh38] Chr22:45970464 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.293A>T (p.Asn98Ile)	single nucleotide variant	not specified [RCV004702776]	Chr22:45525650 [GRCh38] Chr22:45921530 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1776C>T (p.Pro592=)	single nucleotide variant	FBLN1-related disorder [RCV004731743]\|not provided [RCV005103616]	Chr22:45574589 [GRCh38] Chr22:45970469 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.769G>A (p.Asp257Asn)	single nucleotide variant	FBLN1-related disorder [RCV004757861]	Chr22:45533883 [GRCh38] Chr22:45929763 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.41T>C (p.Leu14Pro)	single nucleotide variant	not specified [RCV004916011]	Chr22:45503026 [GRCh38] Chr22:45898906 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1924C>T (p.Arg642Trp)	single nucleotide variant	not specified [RCV004916005]	Chr22:45577060 [GRCh38] Chr22:45972940 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1477A>G (p.Ile493Val)	single nucleotide variant	not specified [RCV004916009]	Chr22:45548648 [GRCh38] Chr22:45944528 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.186G>A (p.Arg62=)	single nucleotide variant	not specified [RCV004916010]	Chr22:45525543 [GRCh38] Chr22:45921423 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.803G>A (p.Ser268Asn)	single nucleotide variant	not specified [RCV004916013]	Chr22:45535218 [GRCh38] Chr22:45931098 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.869C>T (p.Pro290Leu)	single nucleotide variant	not specified [RCV004916006]	Chr22:45535284 [GRCh38] Chr22:45931164 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1784C>T (p.Thr595Ile)	single nucleotide variant	not specified [RCV004916007]	Chr22:45574597 [GRCh38] Chr22:45970477 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1765G>C (p.Val589Leu)	single nucleotide variant	not specified [RCV004916008]	Chr22:45574578 [GRCh38] Chr22:45970458 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.785A>C (p.Asp262Ala)	single nucleotide variant	not specified [RCV004916012]	Chr22:45535200 [GRCh38] Chr22:45931080 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43451317-50307583)x1	copy number loss	not provided [RCV004819399]	Chr22:43451317..50307583 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_006486.3(FBLN1):c.1195+16C>T	single nucleotide variant	not provided [RCV005086350]	Chr22:45542299 [GRCh38] Chr22:45938179 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1441+12C>G	single nucleotide variant	not provided [RCV005086563]	Chr22:45547216 [GRCh38] Chr22:45943096 [GRCh37] Chr22:22q13.31	benign
NM_006486.3(FBLN1):c.1865C>T (p.Thr622Met)	single nucleotide variant	not provided [RCV005060656]	Chr22:45577001 [GRCh38] Chr22:45972881 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.2066G>A (p.Arg689Gln)	single nucleotide variant	not provided [RCV005105831]	Chr22:45600400 [GRCh38] Chr22:45996280 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1727G>A (p.Arg576His)	single nucleotide variant	not provided [RCV005070970]	Chr22:45574540 [GRCh38] Chr22:45970420 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1581T>C (p.Asp527=)	single nucleotide variant	not provided [RCV005185788]	Chr22:45550499 [GRCh38] Chr22:45946379 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.66G>A (p.Leu22=)	single nucleotide variant	not provided [RCV005178888]	Chr22:45503051 [GRCh38] Chr22:45898931 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1855C>T (p.Arg619Trp)	single nucleotide variant	not provided [RCV005188933]	Chr22:45576991 [GRCh38] Chr22:45972871 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.186-14C>G	single nucleotide variant	not provided [RCV005081741]	Chr22:45525529 [GRCh38] Chr22:45921409 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.311C>T (p.Thr104Ile)	single nucleotide variant	not provided [RCV005163904]	Chr22:45525668 [GRCh38] Chr22:45921548 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.544+3G>A	single nucleotide variant	not provided [RCV005069500]	Chr22:45531327 [GRCh38] Chr22:45927207 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.537C>T (p.Arg179=)	single nucleotide variant	not provided [RCV005192585]	Chr22:45531317 [GRCh38] Chr22:45927197 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.1871C>T (p.Pro624Leu)	single nucleotide variant	not provided [RCV005080574]	Chr22:45577007 [GRCh38] Chr22:45972887 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.923-17G>A	single nucleotide variant	not provided [RCV005180235]	Chr22:45541212 [GRCh38] Chr22:45937092 [GRCh37] Chr22:22q13.31	likely benign
NM_006486.3(FBLN1):c.686T>C (p.Leu229Pro)	single nucleotide variant	not specified [RCV004386208]	Chr22:45533800 [GRCh38] Chr22:45929680 [GRCh37] Chr22:22q13.31	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	copy number loss	not provided [RCV000684529]	Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NC_000022.11:g.44702479_50806138del	deletion	Phelan-McDermid syndrome [RCV001254370]	Chr22:44702479..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.43802117_50806121del	deletion	Phelan-McDermid syndrome [RCV001254364]	Chr22:43802117..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NM_006486.3(FBLN1):c.1799T>C (p.Val600Ala)	single nucleotide variant	not specified [RCV004386204]	Chr22:45574612 [GRCh38] Chr22:45970492 [GRCh37] Chr22:22q13.31	uncertain significance
NM_006486.3(FBLN1):c.1943T>C (p.Ile648Thr)	single nucleotide variant	not specified [RCV004386206]	Chr22:45577079 [GRCh38] Chr22:45972959 [GRCh37] Chr22:22q13.31	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	5497
Count of miRNA genes:	1254
Interacting mature miRNAs:	1622
Transcripts:	ENST00000262722, ENST00000327858, ENST00000340923, ENST00000348697, ENST00000402984, ENST00000411478, ENST00000437711, ENST00000439835, ENST00000442170, ENST00000445110, ENST00000450975, ENST00000451475, ENST00000454279, ENST00000455233, ENST00000460300, ENST00000460538, ENST00000465578, ENST00000476366, ENST00000484531
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597133845	GWAS1229919_H	hematocrit QTL GWAS1229919 (human)		4e-10	hematocrit	hematocrit (CMO:0000037)	22	45589577	45589578	Human
597327449	GWAS1423523_H	non-high density lipoprotein cholesterol measurement QTL GWAS1423523 (human)		7e-10	non-high density lipoprotein cholesterol measurement	blood non-high density lipoprotein cholesterol level (CMO:0003967)	22	45600418	45600419	Human
597197276	GWAS1293350_H	hemoglobin measurement QTL GWAS1293350 (human)		4e-10	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	22	45597135	45597136	Human
596965266	GWAS1084785_H	diet measurement, IGF-1 measurement QTL GWAS1084785 (human)		0.000008	diet measurement, IGF-1 measurement		22	45576000	45576001	Human
597257744	GWAS1353818_H	total cholesterol measurement QTL GWAS1353818 (human)		5e-09	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	22	45600418	45600419	Human
597327635	GWAS1423709_H	prostate specific antigen amount QTL GWAS1423709 (human)		2e-10	prostate specific antigen amount		22	45600418	45600419	Human
597322833	GWAS1418907_H	non-high density lipoprotein cholesterol measurement QTL GWAS1418907 (human)		5e-10	non-high density lipoprotein cholesterol measurement	blood non-high density lipoprotein cholesterol level (CMO:0003967)	22	45600418	45600419	Human
597615507	GWAS1672367_H	prostate specific antigen amount QTL GWAS1672367 (human)		1e-23	prostate specific antigen amount		22	45600418	45600419	Human
597259977	GWAS1356051_H	total cholesterol measurement QTL GWAS1356051 (human)		2e-09	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	22	45600418	45600419	Human
597040654	GWAS1136728_H	low density lipoprotein cholesterol measurement QTL GWAS1136728 (human)		4e-10	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	22	45600418	45600419	Human
597617604	GWAS1674464_H	prostate specific antigen amount QTL GWAS1674464 (human)		1e-27	prostate specific antigen amount		22	45600418	45600419	Human
596965967	GWAS1085486_H	prostate specific antigen amount QTL GWAS1085486 (human)		2e-10	prostate specific antigen amount		22	45600418	45600419	Human
407128408	GWAS777384_H	abnormal paneth cell measurement QTL GWAS777384 (human)		0.000004	abnormal paneth cell measurement		22	45540440	45540441	Human
597024904	GWAS1120978_H	erythrocyte count QTL GWAS1120978 (human)		3e-14	erythrocyte count	red blood cell count (CMO:0000025)	22	45596337	45596338	Human
597321848	GWAS1417922_H	low density lipoprotein cholesterol measurement QTL GWAS1417922 (human)		4e-13	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	22	45600418	45600419	Human
597591035	GWAS1647895_H	prostate specific antigen amount QTL GWAS1647895 (human)		5e-13	prostate specific antigen amount		22	45600418	45600419	Human
407103012	GWAS751988_H	obsolete_prostate specific antigen measurement QTL GWAS751988 (human)		2e-10	obsolete_prostate specific antigen measurement		22	45600418	45600419	Human
597615734	GWAS1672594_H	prostate specific antigen amount QTL GWAS1672594 (human)		4e-21	prostate specific antigen amount		22	45600418	45600419	Human
597431285	GWAS1527359_H	protein measurement QTL GWAS1527359 (human)		1e-11	protein measurement		22	45545596	45545597	Human
597593396	GWAS1650256_H	prostate specific antigen amount QTL GWAS1650256 (human)		5e-28	prostate specific antigen amount		22	45600418	45600419	Human
597604404	GWAS1661264_H	prostate specific antigen amount QTL GWAS1661264 (human)		1e-31	prostate specific antigen amount		22	45600418	45600419	Human
597075576	GWAS1171650_H	QT interval QTL GWAS1171650 (human)		0.000003	QT interval	QT interval (CMO:0000235)	22	45541141	45541142	Human
597268777	GWAS1364851_H	low density lipoprotein cholesterol measurement QTL GWAS1364851 (human)		5e-14	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	22	45600418	45600419	Human
597101347	GWAS1197421_H	low density lipoprotein cholesterol measurement QTL GWAS1197421 (human)		9e-14	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	22	45600418	45600419	Human
597060012	GWAS1156086_H	FEV/FVC ratio QTL GWAS1156086 (human)		1e-08	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	22	45533320	45533321	Human
597051501	GWAS1147575_H	glucagon measurement QTL GWAS1147575 (human)		0.000004	blood glucagon amount (VT:0002695)	blood glucagon level (CMO:0001294)	22	45589491	45589492	Human
597604834	GWAS1661694_H	prostate specific antigen amount QTL GWAS1661694 (human)		1e-36	prostate specific antigen amount		22	45600418	45600419	Human
597199781	GWAS1295855_H	pregnancy disorder QTL GWAS1295855 (human)		0.000007	pregnancy disorder		22	45521571	45521572	Human
597178661	GWAS1274735_H	hemoglobin measurement QTL GWAS1274735 (human)		1e-10	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	22	45588021	45588022	Human
597151593	GWAS1247667_H	diet measurement, IGF-1 measurement QTL GWAS1247667 (human)		0.000008	eating behavior trait (VT:0001431)	blood insulin-like growth factor 1 level (CMO:0001297)	22	45576000	45576001	Human

D22S444

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,961,526 - 45,961,647	UniSTS	GRCh37
Build 36	22	44,340,190 - 44,340,311	RGD	NCBI36
Celera	22	29,872,497 - 29,872,622	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,906,922 - 28,907,047	UniSTS
Marshfield Genetic Map	22	51.54	RGD
Marshfield Genetic Map	22	51.54	UniSTS
deCODE Assembly Map	22	58.85	UniSTS
Stanford-G3 RH Map	22	1538.0	UniSTS
Whitehead-RH Map	22	174.1	UniSTS
NCBI RH Map	22	220.4	UniSTS

SHGC-11380

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,996,809 - 45,996,962	UniSTS	GRCh37
Build 36	22	44,375,473 - 44,375,626	RGD	NCBI36
Celera	22	29,909,439 - 29,909,592	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,942,207 - 28,942,360	UniSTS
Stanford-G3 RH Map	22	1548.0	UniSTS
GeneMap99-G3 RH Map	22	1548.0	UniSTS

RH15754

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,916,481 - 45,916,627	UniSTS	GRCh37
Build 36	22	44,295,145 - 44,295,291	RGD	NCBI36
Celera	22	29,827,452 - 29,827,598	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,861,875 - 28,862,021	UniSTS

WIAF-1606

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,960,872 - 45,961,370	UniSTS	GRCh37
Build 36	22	44,339,536 - 44,340,034	RGD	NCBI36
Celera	22	29,871,843 - 29,872,341	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,906,268 - 28,906,766	UniSTS

G49289

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,971,728 - 45,972,039	UniSTS	GRCh37
Build 36	22	44,350,392 - 44,350,703	RGD	NCBI36
Celera	22	29,884,354 - 29,884,665	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,917,126 - 28,917,437	UniSTS

G49290

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,971,826 - 45,972,182	UniSTS	GRCh37
Build 36	22	44,350,490 - 44,350,846	RGD	NCBI36
Celera	22	29,884,452 - 29,884,808	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,917,224 - 28,917,580	UniSTS

G59664

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,960,878 - 45,961,125	UniSTS	GRCh37
Build 36	22	44,339,542 - 44,339,789	RGD	NCBI36
Celera	22	29,871,849 - 29,872,096	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,906,274 - 28,906,521	UniSTS

G60177

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,960,878 - 45,961,151	UniSTS	GRCh37
Build 36	22	44,339,542 - 44,339,815	RGD	NCBI36
Celera	22	29,871,849 - 29,872,122	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,906,274 - 28,906,547	UniSTS

G62037

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,996,748 - 45,996,856	UniSTS	GRCh37
Build 36	22	44,375,412 - 44,375,520	RGD	NCBI36
Celera	22	29,909,378 - 29,909,486	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,942,146 - 28,942,254	UniSTS

G65370

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,922,681 - 45,923,031	UniSTS	GRCh37
Build 36	22	44,301,345 - 44,301,695	RGD	NCBI36
Celera	22	29,833,653 - 29,834,003	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,868,076 - 28,868,426	UniSTS

G65371

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,930,392 - 45,930,743	UniSTS	GRCh37
Build 36	22	44,309,056 - 44,309,407	RGD	NCBI36
Celera	22	29,841,363 - 29,841,714	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,875,785 - 28,876,136	UniSTS

G65372

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,934,244 - 45,934,595	UniSTS	GRCh37
Build 36	22	44,312,908 - 44,313,259	RGD	NCBI36
Celera	22	29,845,214 - 29,845,565	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,879,636 - 28,879,987	UniSTS

G65373

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,937,190 - 45,937,542	UniSTS	GRCh37
Build 36	22	44,315,854 - 44,316,206	RGD	NCBI36
Celera	22	29,848,160 - 29,848,512	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,882,582 - 28,882,934	UniSTS

G65369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,907,760 - 45,908,119	UniSTS	GRCh37
Build 36	22	44,286,424 - 44,286,783	RGD	NCBI36
Celera	22	29,818,729 - 29,819,088	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,853,151 - 28,853,510	UniSTS

AL021648

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,937,685 - 45,937,867	UniSTS	GRCh37
Build 36	22	44,316,349 - 44,316,531	RGD	NCBI36
Celera	22	29,848,655 - 29,848,837	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,883,077 - 28,883,259	UniSTS

D22S1238

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,961,062 - 45,961,170	UniSTS	GRCh37
Build 36	22	44,339,726 - 44,339,834	RGD	NCBI36
Celera	22	29,872,033 - 29,872,141	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,906,458 - 28,906,566	UniSTS
Stanford-G3 RH Map	22	1542.0	UniSTS
GeneMap99-G3 RH Map	22	1542.0	UniSTS

PMC115182P4

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,939,806 - 45,940,392	UniSTS	GRCh37
Build 36	22	44,318,470 - 44,319,056	RGD	NCBI36
Celera	22	29,850,776 - 29,851,362	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,885,198 - 28,885,784	UniSTS

D22S1237

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,996,369 - 45,996,533	UniSTS	GRCh37
Build 36	22	44,375,033 - 44,375,197	RGD	NCBI36
Celera	22	29,908,999 - 29,909,163	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,941,767 - 28,941,931	UniSTS
Stanford-G3 RH Map	22	1545.0	UniSTS
NCBI RH Map	22	230.8	UniSTS
GeneMap99-G3 RH Map	22	1545.0	UniSTS

D22S1102

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	45,996,789 - 45,997,014	UniSTS	GRCh37
Build 36	22	44,375,453 - 44,375,678	RGD	NCBI36
Celera	22	29,909,419 - 29,909,644	RGD
Cytogenetic Map	22	q13.31	UniSTS
HuRef	22	28,942,187 - 28,942,412	UniSTS
GeneMap99-GB4 RH Map	22	154.59	UniSTS
Whitehead-RH Map	22	176.3	UniSTS
NCBI RH Map	22	220.4	UniSTS

G06348

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	22	q13.31	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2428	2788	2249	4954	1724	2350	5	622	1554	465	2269	6898	6074	53	3715	851	1743	1616	175	1


RefSeq Transcripts	NG_023308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF126110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF217999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI092723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL021391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY040589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX403501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX424750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX443677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB852401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS161042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS161044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS161046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS161048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS208047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB867232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC700999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC701000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U01244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X53741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X53742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X53743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z95331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z98047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000262722 ⟹ ENSP00000262722

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,883 - 45,563,362 (+)	Ensembl

Ensembl Acc Id:

ENST00000327858 ⟹ ENSP00000331544

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,883 - 45,601,135 (+)	Ensembl

Ensembl Acc Id:

ENST00000340923 ⟹ ENSP00000342212

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,976 - 45,558,711 (+)	Ensembl

Ensembl Acc Id:

ENST00000402984 ⟹ ENSP00000385521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,883 - 45,563,352 (+)	Ensembl

Ensembl Acc Id:

ENST00000411478 ⟹ ENSP00000415289

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,238 - 45,531,324 (+)	Ensembl

Ensembl Acc Id:

ENST00000437711 ⟹ ENSP00000401077

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,525,675 - 45,542,214 (+)	Ensembl

Ensembl Acc Id:

ENST00000439835 ⟹ ENSP00000395329

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,503,046 - 45,525,563 (+)	Ensembl

Ensembl Acc Id:

ENST00000442170 ⟹ ENSP00000393812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,970 - 45,565,701 (+)	Ensembl

Ensembl Acc Id:

ENST00000445110 ⟹ ENSP00000404024

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,277 - 45,525,678 (+)	Ensembl

Ensembl Acc Id:

ENST00000450975

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,517,345 - 45,518,786 (+)	Ensembl

Ensembl Acc Id:

ENST00000451475 ⟹ ENSP00000415160

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,518,783 - 45,533,898 (+)	Ensembl

Ensembl Acc Id:

ENST00000454279 ⟹ ENSP00000414584

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,518,582 - 45,531,324 (+)	Ensembl

Ensembl Acc Id:

ENST00000455233 ⟹ ENSP00000402963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,502,832 - 45,533,095 (+)	Ensembl

Ensembl Acc Id:

ENST00000460300 ⟹ ENSP00000489422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,577,039 - 45,578,434 (+)	Ensembl

Ensembl Acc Id:

ENST00000460538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,532,893 - 45,541,279 (+)	Ensembl

Ensembl Acc Id:

ENST00000465578

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,533,151 - 45,535,584 (+)	Ensembl

Ensembl Acc Id:

ENST00000476366

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,541,229 - 45,551,129 (+)	Ensembl

Ensembl Acc Id:

ENST00000484531

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	45,533,781 - 45,535,431 (+)	Ensembl

RefSeq Acc Id:

NM_001996 ⟹ NP_001987

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	45,502,883 - 45,563,362 (+)	NCBI
GRCh37	22	45,898,719 - 45,997,014 (+)	ENTREZGENE
Build 36	22	44,277,383 - 44,337,906 (+)	NCBI Archive
HuRef	22	28,859,953 - 28,942,412 (+)	ENTREZGENE
CHM1_1	22	45,857,451 - 45,918,000 (+)	NCBI
T2T-CHM13v2.0	22	45,987,730 - 46,048,227 (+)	NCBI

Sequence:

show sequence

GTTGGCTGCCGAGGCTCGGCCGGAGCGTGGAGCCCGCGCCGCTGCCCCAGGACCGCGCCCGCGCCTTTGTCCGCCGCCGCCCACCGCCCGTCGCCCGCCGCCCATGGAGCGCGCCGCGCCGTCGCGCC
GGGTCCCGCTTCCGCTGCTGCTGCTCGGCGGCCTTGCGCTGCTGGCGGCCGGAGTGGACGCGGATGTCCTCCTGGAGGCCTGCTGTGCGGACGGACACCGGATGGCCACTCATCAGAAGGACTGCTCG
CTGCCATATGCTACGGAATCCAAAGAATGCAGGATGGTGCAGGAGCAGTGCTGCCACAGCCAGCTGGAGGAGCTGCACTGTGCCACGGGCATCAGCCTGGCCAACGAGCAGGACCGCTGTGCCACGCC
CCACGGTGACAACGCCAGCCTGGAGGCCACATTTGTGAAGAGGTGCTGCCATTGCTGTCTGCTGGGGAGGGCGGCCCAGGCCCAGGGCCAGAGCTGCGAGTACAGCCTCATGGTTGGCTACCAGTGTG
GACAGGTCTTCCAGGCATGCTGTGTCAAGAGCCAGGAGACCGGAGATTTGGATGTCGGGGGCCTCCAAGAAACGGATAAGATCATTGAGGTTGAGGAGGAACAAGAGGACCCATATCTGAATGACCGC
TGCCGAGGAGGCGGGCCCTGCAAGCAGCAGTGCCGAGACACGGGTGACGAGGTGGTCTGCTCCTGCTTCGTGGGCTACCAGCTGCTGTCTGATGGTGTCTCCTGTGAAGATGTCAATGAATGCATCAC
GGGCAGCCACAGCTGCCGGCTTGGAGAATCCTGCATCAACACAGTGGGCTCTTTCCGCTGCCAGCGGGACAGCAGCTGCGGGACTGGCTATGAGCTCACAGAGGACAATAGCTGCAAAGATATTGACG
AGTGTGAGAGTGGTATTCATAACTGCCTCCCCGATTTTATCTGTCAGAATACTCTGGGATCCTTCCGCTGCCGACCCAAGCTACAGTGCAAGAGTGGCTTTATACAAGATGCTCTAGGCAACTGTATT
GATATCAATGAGTGTTTGAGTATCAGTGCCCCGTGCCCTATCGGGCATACATGCATCAACACAGAGGGCTCCTACACGTGCCAGAAGAACGTGCCCAACTGTGGCCGTGGCTACCATCTCAACGAGGA
GGGAACGCGCTGTGTTGATGTGGACGAGTGCGCGCCACCTGCTGAGCCCTGTGGGAAGGGACATCGCTGCGTGAACTCTCCCGGCAGTTTCCGCTGCGAATGCAAGACGGGTTACTATTTTGACGGCA
TCAGCAGGATGTGTGTCGATGTCAACGAGTGCCAGCGCTACCCCGGGCGCCTGTGTGGCCACAAGTGCGAGAACACGCTGGGCTCCTACCTCTGCAGCTGTTCCGTGGGCTTCCGGCTCTCTGTGGAT
GGCAGGTCATGTGAAGACATCAATGAGTGCAGCAGCAGCCCCTGTAGCCAGGAGTGTGCCAACGTCTACGGCTCCTACCAGTGTTACTGCCGGCGAGGCTACCAGCTCAGCGATGTGGATGGAGTCAC
CTGTGAAGACATCGACGAGTGCGCCCTGCCCACCGGGGGCCACATCTGCTCCTACCGCTGCATCAACATCCCTGGAAGCTTCCAGTGCAGCTGCCCCTCGTCTGGCTACAGGCTGGCCCCCAATGGCC
GCAACTGCCAAGACATTGATGAGTGTGTGACTGGCATCCACAACTGCTCCATCAACGAGACCTGCTTCAACATCCAGGGCGGCTTCCGCTGCCTGGCCTTCGAGTGCCCTGAGAACTACCGCCGCTCC
GCAGCCACCCGCTGTGAGCGCTTGCCTTGCCATGAGAATCGGGAGTGCTCCAAGCTGCCTCTGAGAATAACCTACTACCACCTCTCTTTCCCCACCAACATCCAAGCGCCCGCGGTGGTTTTCCGCAT
GGGCCCCTCCAGTGCTGTCCCCGGGGACAGCATGCAGCTGGCCATCACCGGCGGCAATGAGGAGGGCTTTTTCACCACCCGGAAGGTGAGCCCCCACAGTGGGGTGGTGGCCCTCACCAAGCCTGTCC
CCGAGCCCAGGGACTTGCTCCTGACCGTCAAGATGGATCTCTCTCGCCACGGCACCGTCAGCTCCTTTGTGGCCAAGCTTTTCATCTTTGTGTCTGCAGAGCTCTGAGCACTCGCTTCGCGTCGCGGG
GTCTCCCTCCTGTTGCTTTCCTAACCCTGCCCTCCGGGGCGTTAATAAAGTCTTAGCAAGCGTCCCACACAGTGA

hide sequence

RefSeq Acc Id:

NM_006485 ⟹ NP_006476

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	45,502,883 - 45,565,706 (+)	NCBI
GRCh37	22	45,898,719 - 45,997,014 (+)	ENTREZGENE
Build 36	22	44,277,383 - 44,340,245 (+)	NCBI Archive
HuRef	22	28,859,953 - 28,942,412 (+)	ENTREZGENE
CHM1_1	22	45,857,451 - 45,920,339 (+)	NCBI
T2T-CHM13v2.0	22	45,987,730 - 46,050,571 (+)	NCBI

Sequence:

show sequence

GTTGGCTGCCGAGGCTCGGCCGGAGCGTGGAGCCCGCGCCGCTGCCCCAGGACCGCGCCCGCGCCTTTGTCCGCCGCCGCCCACCGCCCGTCGCCCGCCGCCCATGGAGCGCGCCGCGCCGTCGCGCC
GGGTCCCGCTTCCGCTGCTGCTGCTCGGCGGCCTTGCGCTGCTGGCGGCCGGAGTGGACGCGGATGTCCTCCTGGAGGCCTGCTGTGCGGACGGACACCGGATGGCCACTCATCAGAAGGACTGCTCG
CTGCCATATGCTACGGAATCCAAAGAATGCAGGATGGTGCAGGAGCAGTGCTGCCACAGCCAGCTGGAGGAGCTGCACTGTGCCACGGGCATCAGCCTGGCCAACGAGCAGGACCGCTGTGCCACGCC
CCACGGTGACAACGCCAGCCTGGAGGCCACATTTGTGAAGAGGTGCTGCCATTGCTGTCTGCTGGGGAGGGCGGCCCAGGCCCAGGGCCAGAGCTGCGAGTACAGCCTCATGGTTGGCTACCAGTGTG
GACAGGTCTTCCAGGCATGCTGTGTCAAGAGCCAGGAGACCGGAGATTTGGATGTCGGGGGCCTCCAAGAAACGGATAAGATCATTGAGGTTGAGGAGGAACAAGAGGACCCATATCTGAATGACCGC
TGCCGAGGAGGCGGGCCCTGCAAGCAGCAGTGCCGAGACACGGGTGACGAGGTGGTCTGCTCCTGCTTCGTGGGCTACCAGCTGCTGTCTGATGGTGTCTCCTGTGAAGATGTCAATGAATGCATCAC
GGGCAGCCACAGCTGCCGGCTTGGAGAATCCTGCATCAACACAGTGGGCTCTTTCCGCTGCCAGCGGGACAGCAGCTGCGGGACTGGCTATGAGCTCACAGAGGACAATAGCTGCAAAGATATTGACG
AGTGTGAGAGTGGTATTCATAACTGCCTCCCCGATTTTATCTGTCAGAATACTCTGGGATCCTTCCGCTGCCGACCCAAGCTACAGTGCAAGAGTGGCTTTATACAAGATGCTCTAGGCAACTGTATT
GATATCAATGAGTGTTTGAGTATCAGTGCCCCGTGCCCTATCGGGCATACATGCATCAACACAGAGGGCTCCTACACGTGCCAGAAGAACGTGCCCAACTGTGGCCGTGGCTACCATCTCAACGAGGA
GGGAACGCGCTGTGTTGATGTGGACGAGTGCGCGCCACCTGCTGAGCCCTGTGGGAAGGGACATCGCTGCGTGAACTCTCCCGGCAGTTTCCGCTGCGAATGCAAGACGGGTTACTATTTTGACGGCA
TCAGCAGGATGTGTGTCGATGTCAACGAGTGCCAGCGCTACCCCGGGCGCCTGTGTGGCCACAAGTGCGAGAACACGCTGGGCTCCTACCTCTGCAGCTGTTCCGTGGGCTTCCGGCTCTCTGTGGAT
GGCAGGTCATGTGAAGACATCAATGAGTGCAGCAGCAGCCCCTGTAGCCAGGAGTGTGCCAACGTCTACGGCTCCTACCAGTGTTACTGCCGGCGAGGCTACCAGCTCAGCGATGTGGATGGAGTCAC
CTGTGAAGACATCGACGAGTGCGCCCTGCCCACCGGGGGCCACATCTGCTCCTACCGCTGCATCAACATCCCTGGAAGCTTCCAGTGCAGCTGCCCCTCGTCTGGCTACAGGCTGGCCCCCAATGGCC
GCAACTGCCAAGACATTGATGAGTGTGTGACTGGCATCCACAACTGCTCCATCAACGAGACCTGCTTCAACATCCAGGGCGGCTTCCGCTGCCTGGCCTTCGAGTGCCCTGAGAACTACCGCCGCTCC
GCAGCCACGCAGAAATCCAAGAAGGGAAGGCAGAACACCCCAGCGGGATCAAGTAAAGAGGACTGCAGGGTTCTTCCATGGAAGCAGGGGTTGGAGGATACCCACCTTGATGCCTAGTGAGGAAGATG
GACCTGGACAGACAGTCAGCTCCACACCTTGCGCTGAGCAGCTGTGATTGTGCCACGGGAGCATGAGCCCTTTTCCCCACGGCCCTTGCCACTGTCTCCTGGCCCTCTCTCTGATCATGCCAGGTTTG
CACCAGCCTCGAGTCTCCCATGTTGTAGTACATTCTCCAAGATGCAGCCCAGGAGCCTCTCTGAAGGACCAGTCTGGTTACGATGGTCTGAGCTTCCTTAGAACCTTCCATGGTTGTCTTTTCCCAGC
AGATGAAGCATAGCCTCCTTGGAATGGCATGGGAGGCCTGGCCTGATCTGGCCTCTGCCCACCCTTTGAGCTGCACCTGCCCCACCCCAGCTCATCCATGTGCTTGTACCCTGGCCCCACGGGGAGGC
TTGCCCTTCCCTGAATCTGCCTTCTTGTGGCTTTAGCATGTGCCATGCTGTCCCCCTGCAGACTGCCATTCTCCTTGCAGACTTGGCTCAGAAGTCACCTCCTCAGTGCAGTTAGCCTGAGCTCCCCT
GGCCCCAGGTGCCTCCATCAGAGCATTTACCCCATTGTGTTGTGGCTGTTCCTTAACGTCCCCACTAGCCAGGCTCTTTGAGGGCAGGGATTGTGTCTGGTTAATTTCTGTATTCTCTGCAACTTTGC
AATGTTTGGCTTGAAGAAGGAGCTCAGTAAACATCTGAATAAACATGCAGGTTGATGGATGGA

hide sequence

RefSeq Acc Id:

NM_006486 ⟹ NP_006477

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	45,502,883 - 45,601,135 (+)	NCBI
GRCh37	22	45,898,719 - 45,997,014 (+)	ENTREZGENE
Build 36	22	44,277,383 - 44,375,678 (+)	NCBI Archive
HuRef	22	28,859,953 - 28,942,412 (+)	ENTREZGENE
CHM1_1	22	45,857,451 - 45,955,744 (+)	NCBI
T2T-CHM13v2.0	22	45,987,730 - 46,085,865 (+)	NCBI

Sequence:

show sequence

GTTGGCTGCCGAGGCTCGGCCGGAGCGTGGAGCCCGCGCCGCTGCCCCAGGACCGCGCCCGCGC
CTTTGTCCGCCGCCGCCCACCGCCCGTCGCCCGCCGCCCATGGAGCGCGCCGCGCCGTCGCGCCGGGTCCCGCTTCCGCTGCTGCTGCTCGGCGGCCTTGCGCTGCTGGCGGCCGGAGTGGACGCGGA
TGTCCTCCTGGAGGCCTGCTGTGCGGACGGACACCGGATGGCCACTCATCAGAAGGACTGCTCGCTGCCATATGCTACGGAATCCAAAGAATGCAGGATGGTGCAGGAGCAGTGCTGCCACAGCCAGC
TGGAGGAGCTGCACTGTGCCACGGGCATCAGCCTGGCCAACGAGCAGGACCGCTGTGCCACGCCCCACGGTGACAACGCCAGCCTGGAGGCCACATTTGTGAAGAGGTGCTGCCATTGCTGTCTGCTG
GGGAGGGCGGCCCAGGCCCAGGGCCAGAGCTGCGAGTACAGCCTCATGGTTGGCTACCAGTGTGGACAGGTCTTCCAGGCATGCTGTGTCAAGAGCCAGGAGACCGGAGATTTGGATGTCGGGGGCCT
CCAAGAAACGGATAAGATCATTGAGGTTGAGGAGGAACAAGAGGACCCATATCTGAATGACCGCTGCCGAGGAGGCGGGCCCTGCAAGCAGCAGTGCCGAGACACGGGTGACGAGGTGGTCTGCTCCT
GCTTCGTGGGCTACCAGCTGCTGTCTGATGGTGTCTCCTGTGAAGATGTCAATGAATGCATCACGGGCAGCCACAGCTGCCGGCTTGGAGAATCCTGCATCAACACAGTGGGCTCTTTCCGCTGCCAG
CGGGACAGCAGCTGCGGGACTGGCTATGAGCTCACAGAGGACAATAGCTGCAAAGATATTGACGAGTGTGAGAGTGGTATTCATAACTGCCTCCCCGATTTTATCTGTCAGAATACTCTGGGATCCTT
CCGCTGCCGACCCAAGCTACAGTGCAAGAGTGGCTTTATACAAGATGCTCTAGGCAACTGTATTGATATCAATGAGTGTTTGAGTATCAGTGCCCCGTGCCCTATCGGGCATACATGCATCAACACAG
AGGGCTCCTACACGTGCCAGAAGAACGTGCCCAACTGTGGCCGTGGCTACCATCTCAACGAGGAGGGAACGCGCTGTGTTGATGTGGACGAGTGCGCGCCACCTGCTGAGCCCTGTGGGAAGGGACAT
CGCTGCGTGAACTCTCCCGGCAGTTTCCGCTGCGAATGCAAGACGGGTTACTATTTTGACGGCATCAGCAGGATGTGTGTCGATGTCAACGAGTGCCAGCGCTACCCCGGGCGCCTGTGTGGCCACAA
GTGCGAGAACACGCTGGGCTCCTACCTCTGCAGCTGTTCCGTGGGCTTCCGGCTCTCTGTGGATGGCAGGTCATGTGAAGACATCAATGAGTGCAGCAGCAGCCCCTGTAGCCAGGAGTGTGCCAACG
TCTACGGCTCCTACCAGTGTTACTGCCGGCGAGGCTACCAGCTCAGCGATGTGGATGGAGTCACCTGTGAAGACATCGACGAGTGCGCCCTGCCCACCGGGGGCCACATCTGCTCCTACCGCTGCATC
AACATCCCTGGAAGCTTCCAGTGCAGCTGCCCCTCGTCTGGCTACAGGCTGGCCCCCAATGGCCGCAACTGCCAAGACATTGATGAGTGTGTGACTGGCATCCACAACTGCTCCATCAACGAGACCTG
CTTCAACATCCAGGGCGGCTTCCGCTGCCTGGCCTTCGAGTGCCCTGAGAACTACCGCCGCTCCGCAGCCACGCTCCAGCAGGAGAAGACAGACACGGTCCGCTGCATCAAGTCCTGCCGCCCCAACG
ATGTCACATGCGTGTTCGACCCCGTGCACACCATCTCCCACACCGTCATCTCGCTGCCTACCTTCCGCGAGTTCACCCGCCCTGAAGAGATCATCTTCCTCCGGGCCATCACGCCACCGCATCCTGCC
AGCCAGGCTAACATCATCTTCGACATCACGGAAGGGAACCTGCGGGACTCTTTTGACATCATCAAGCGTTACATGGACGGCATGACCGTGGGTGTCGTGCGCCAGGTGCGGCCCATCGTGGGCCCATT
TCATGCCGTCCTGAAGCTGGAGATGAACTATGTGGTCGGGGGCGTGGTCTCCCACCGAAATGTTGTCAACGTCCACATCTTCGTCTCTGAGTACTGGTTCTGAGGGCTGGTCTGCCGCACAGCCGCAG
GTGCACCTCCAGGCCAAATCATTGCTGCCAGTGACTGTGGTCTGTACTTGTTTATACCCTCAGACTTTTTTAATGTTAGGTATTTGTAGCATTAGGCCAACATGTATTAAGCTGAGCCAGATGAATAA
GTCCATCTGATGTATTTTCGGTGTTTAAAAAATGAGCCCAGTTGCTCAACTGTTTGGTTGAAAACCTTGCTCATTTTTTAATGCGAAGGCTAAGTGTCACCCCCTTTCTCTGCCTCTGGCTGGGCCTT
GCTAAGGGCCAAGGAAAGAAAGACATTTTTTAGGGGGCAGCCAGTCCAAATGCCAAAAGAAGACCAGTTCTTGCCCTGATTGTATGAAATTTGACATTTTGGCACTTTTTTTTTTTTTTTGGCCAATC
AGATTTTCTATGTTCTAAGGACATGGCTGCTGTAGAATAGCACAGACGTGGATGATAAATTATCCCCAGAAGCAGCATGACAGAATGCCTCGGGGAGCACTTGGAAGGGAAATTGCAGTTCTGTTGAA
ATAGAGGAAAATCCCTTGGTAAAGACACAGCCTGTTAGGCTCGTGTGGGCCTCCAGTATGTTCACCAGGGGAATGGCTGGGATTTCTCGGCACTCTGCATCATCCATCTTTTCTTATAGGTGGGAAAA
TAAACAACTTTGTGATCCTCCTGA

hide sequence

RefSeq Acc Id:

NM_006487 ⟹ NP_006478

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	45,502,883 - 45,558,712 (+)	NCBI
GRCh37	22	45,898,719 - 45,997,014 (+)	ENTREZGENE
Build 36	22	44,277,383 - 44,333,255 (+)	NCBI Archive
HuRef	22	28,859,953 - 28,942,412 (+)	ENTREZGENE
CHM1_1	22	45,857,451 - 45,913,349 (+)	NCBI
T2T-CHM13v2.0	22	45,987,730 - 46,043,577 (+)	NCBI

Sequence:

show sequence

GTTGGCTGCCGAGGCTCGGCCGGAGCGTGGAGCCCGCGCCGCTGCCCCAGGACCGCGCCCGCGC
CTTTGTCCGCCGCCGCCCACCGCCCGTCGCCCGCCGCCCATGGAGCGCGCCGCGCCGTCGCGCCGGGTCCCGCTTCCGCTGCTGCTGCTCGGCGGCCTTGCGCTGCTGGCGGCCGGAGTGGACGCGGA
TGTCCTCCTGGAGGCCTGCTGTGCGGACGGACACCGGATGGCCACTCATCAGAAGGACTGCTCGCTGCCATATGCTACGGAATCCAAAGAATGCAGGATGGTGCAGGAGCAGTGCTGCCACAGCCAGC
TGGAGGAGCTGCACTGTGCCACGGGCATCAGCCTGGCCAACGAGCAGGACCGCTGTGCCACGCCCCACGGTGACAACGCCAGCCTGGAGGCCACATTTGTGAAGAGGTGCTGCCATTGCTGTCTGCTG
GGGAGGGCGGCCCAGGCCCAGGGCCAGAGCTGCGAGTACAGCCTCATGGTTGGCTACCAGTGTGGACAGGTCTTCCAGGCATGCTGTGTCAAGAGCCAGGAGACCGGAGATTTGGATGTCGGGGGCCT
CCAAGAAACGGATAAGATCATTGAGGTTGAGGAGGAACAAGAGGACCCATATCTGAATGACCGCTGCCGAGGAGGCGGGCCCTGCAAGCAGCAGTGCCGAGACACGGGTGACGAGGTGGTCTGCTCCT
GCTTCGTGGGCTACCAGCTGCTGTCTGATGGTGTCTCCTGTGAAGATGTCAATGAATGCATCACGGGCAGCCACAGCTGCCGGCTTGGAGAATCCTGCATCAACACAGTGGGCTCTTTCCGCTGCCAG
CGGGACAGCAGCTGCGGGACTGGCTATGAGCTCACAGAGGACAATAGCTGCAAAGATATTGACGAGTGTGAGAGTGGTATTCATAACTGCCTCCCCGATTTTATCTGTCAGAATACTCTGGGATCCTT
CCGCTGCCGACCCAAGCTACAGTGCAAGAGTGGCTTTATACAAGATGCTCTAGGCAACTGTATTGATATCAATGAGTGTTTGAGTATCAGTGCCCCGTGCCCTATCGGGCATACATGCATCAACACAG
AGGGCTCCTACACGTGCCAGAAGAACGTGCCCAACTGTGGCCGTGGCTACCATCTCAACGAGGAGGGAACGCGCTGTGTTGATGTGGACGAGTGCGCGCCACCTGCTGAGCCCTGTGGGAAGGGACAT
CGCTGCGTGAACTCTCCCGGCAGTTTCCGCTGCGAATGCAAGACGGGTTACTATTTTGACGGCATCAGCAGGATGTGTGTCGATGTCAACGAGTGCCAGCGCTACCCCGGGCGCCTGTGTGGCCACAA
GTGCGAGAACACGCTGGGCTCCTACCTCTGCAGCTGTTCCGTGGGCTTCCGGCTCTCTGTGGATGGCAGGTCATGTGAAGACATCAATGAGTGCAGCAGCAGCCCCTGTAGCCAGGAGTGTGCCAACG
TCTACGGCTCCTACCAGTGTTACTGCCGGCGAGGCTACCAGCTCAGCGATGTGGATGGAGTCACCTGTGAAGACATCGACGAGTGCGCCCTGCCCACCGGGGGCCACATCTGCTCCTACCGCTGCATC
AACATCCCTGGAAGCTTCCAGTGCAGCTGCCCCTCGTCTGGCTACAGGCTGGCCCCCAATGGCCGCAACTGCCAAGACATTGATGAGTGTGTGACTGGCATCCACAACTGCTCCATCAACGAGACCTG
CTTCAACATCCAGGGCGGCTTCCGCTGCCTGGCCTTCGAGTGCCCTGAGAACTACCGCCGCTCCGCAGCCACATGATCGTAGGGAACTCTGCATGAGGCCATCGGTGCAGGCTGGAGAAGAGAAGGCA
AGTTGGCAGGAGTGGAGACCACGGGCATTTGAGCCACTTCCTCATGTAACTTAACTTGTGCCTTCAGGACCTGCTCAAGCCCGATCACGTATATACCACTTCCATTTGATGATGGAATGCTGCTGTTC
ATGACCAACTTTATGGCTAGATGGGTCAGAAAGCACCCAGTTCATGATAGGCAGTTCAGGTCATATGGTGACTTGATGACCCAGAGTCAAACATTCAGTTTCCACCAAAGCCCAGTAACAGGCCAAGA
GCTGTCTCTCAAAAGGAGAGTAGTTATCTGCAGAAGATGGCAGGGCCTTGCTCCGAAAGCCTAGAGACCGCCACTGTGATTCACCTATGGGGGCCTGCCAAAGGCTGCAGCCAGCATCCTTATCTGCC
ACTGACACCTCAAGCAACATTGGATCTGCTGGGTCATATGGCCCAAGTGGCAGAGCAACTTGCACAACAGCCTGGACCTGTCATAGAGCTTTCTCCTGTTCTGGACCCCACTCAAAACTGGCAGCCTT
TCAGGTCACTCGATAAATGTGCTGGAGTAACACTCAAACGAGGAATGTGTTGCCTCCAAAATCCAATAGGCCCA

hide sequence


Protein RefSeqs	NP_001987	(Get FASTA)	NCBI Sequence Viewer
	NP_006476	(Get FASTA)	NCBI Sequence Viewer
	NP_006477	(Get FASTA)	NCBI Sequence Viewer
	NP_006478	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB17099	(Get FASTA)	NCBI Sequence Viewer
	AAG17241	(Get FASTA)	NCBI Sequence Viewer
	AAH22497	(Get FASTA)	NCBI Sequence Viewer
	AAK37822	(Get FASTA)	NCBI Sequence Viewer
	AAK82945	(Get FASTA)	NCBI Sequence Viewer
	BAC11705	(Get FASTA)	NCBI Sequence Viewer
	BAG62463	(Get FASTA)	NCBI Sequence Viewer
	BAH14662	(Get FASTA)	NCBI Sequence Viewer
	BDH02287	(Get FASTA)	NCBI Sequence Viewer
	BDH02288	(Get FASTA)	NCBI Sequence Viewer
	CAA37770	(Get FASTA)	NCBI Sequence Viewer
	CAA37771	(Get FASTA)	NCBI Sequence Viewer
	CAA37772	(Get FASTA)	NCBI Sequence Viewer
	CAJ30871	(Get FASTA)	NCBI Sequence Viewer
	CAJ30872	(Get FASTA)	NCBI Sequence Viewer
	CAJ30873	(Get FASTA)	NCBI Sequence Viewer
	CAJ30874	(Get FASTA)	NCBI Sequence Viewer
	CAJ44949	(Get FASTA)	NCBI Sequence Viewer
	CBF57602	(Get FASTA)	NCBI Sequence Viewer
	EAW73385	(Get FASTA)	NCBI Sequence Viewer
	EAW73386	(Get FASTA)	NCBI Sequence Viewer
	EAW73387	(Get FASTA)	NCBI Sequence Viewer
	EAW73388	(Get FASTA)	NCBI Sequence Viewer
	EAW73389	(Get FASTA)	NCBI Sequence Viewer
	EAW73390	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000262722
	ENSP00000262722.7
	ENSP00000331544
	ENSP00000331544.6
	ENSP00000342212
	ENSP00000342212.5
	ENSP00000393812
	ENSP00000393812.2
GenBank Protein	P23142	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006477 ⟸ NM_006486
- Peptide Label:	isoform D precursor
- UniProtKB:	Q9UGR4 (UniProtKB/Swiss-Prot), Q9UC21 (UniProtKB/Swiss-Prot), Q9HBQ5 (UniProtKB/Swiss-Prot), Q8TBH8 (UniProtKB/Swiss-Prot), Q5TIC4 (UniProtKB/Swiss-Prot), P37888 (UniProtKB/Swiss-Prot), P23144 (UniProtKB/Swiss-Prot), P23143 (UniProtKB/Swiss-Prot), P23142 (UniProtKB/Swiss-Prot), B1AHL4 (UniProtKB/Swiss-Prot), B0QY42 (UniProtKB/Swiss-Prot), Q9UH41 (UniProtKB/Swiss-Prot), Q8NBH6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEY SLMVGYQCGQVFRACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCEC KTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSS GYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTVISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGN LRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNYVVGGVVSHRNVVNVHIFVSEYWF hide sequence

RefSeq Acc Id:	NP_006476 ⟸ NM_006485
- Peptide Label:	isoform B precursor
- UniProtKB:	A0A8S0MAG0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMV QEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFRACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRD TGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSS PCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATQKSKKGRQNT PAGSSKEDCRVLPWKQGLEDTHLDA hide sequence

RefSeq Acc Id:	NP_001987 ⟸ NM_001996
- Peptide Label:	isoform C precursor
- UniProtKB:	A0A8S0LWY1 (UniProtKB/TrEMBL), A0A8S0MAG0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMV QEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFRACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRD TGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSS PCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATRCERLPCHEN RECSKLPLRITYYHLSFPTNIQAPAVVFRMGPSSAVPGDSMQLAITGGNEEGFFTTRKVSPHSGVVALTKPVPEPRDLLLTVKMDLSRHGTVSSFVAKLFIFVSAEL hide sequence

RefSeq Acc Id:	NP_006478 ⟸ NM_006487
- Peptide Label:	isoform A precursor
- UniProtKB:	A0A8S0MAG0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEY SLMVGYQCGQVFRACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCEC KTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSS GYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAAT hide sequence

Ensembl Acc Id:

ENSP00000401077 ⟸ ENST00000437711

Protein Domains

Anaphylatoxin-like EGF-like

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P23142-F1-model_v2	AlphaFold	P23142	1-703	view protein structure

RGD ID:

6799982

Promoter ID:

HG_KWN:43216

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

ENST00000348697, NM_001996, NM_006485, NM_006487, OTTHUMT00000322287, OTTHUMT00000322291, OTTHUMT00000322292, OTTHUMT00000322293, OTTHUMT00000322294, UC010GZZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	44,277,021 - 44,277,522 (+)	MPROMDB

RGD ID:

13604418

Promoter ID:

EPDNEW_H28393

Type:

initiation region

Name:

FBLN1_1

Description:

fibulin 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	45,502,883 - 45,502,943	EPDNEW

Database	Acc Id	Source(s)
COSMIC	FBLN1	COSMIC
Ensembl Genes	ENSG00000077942	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000262722	ENTREZGENE
	ENST00000262722.11	UniProtKB/Swiss-Prot
	ENST00000327858	ENTREZGENE
	ENST00000327858.11	UniProtKB/Swiss-Prot
	ENST00000340923	ENTREZGENE
	ENST00000340923.9	UniProtKB/Swiss-Prot
	ENST00000442170	ENTREZGENE
	ENST00000442170.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Laminin	UniProtKB/Swiss-Prot
GTEx	ENSG00000077942	GTEx
HGNC ID	HGNC:3600	ENTREZGENE
Human Proteome Map	FBLN1	Human Proteome Map
InterPro	Anaphylatoxin/fibulin	UniProtKB/Swiss-Prot
	cEGF	UniProtKB/Swiss-Prot
	EGF-like_Ca-bd_dom	UniProtKB/Swiss-Prot
	EGF-like_dom	UniProtKB/Swiss-Prot
	EGF-type_Asp/Asn_hydroxyl_site	UniProtKB/Swiss-Prot
	EGF_Ca-bd_CS	UniProtKB/Swiss-Prot
	Fibulin-1	UniProtKB/Swiss-Prot
	Fibulin_C	UniProtKB/Swiss-Prot
	Growth_fac_rcpt_cys_sf	UniProtKB/Swiss-Prot
	Nephronectin_domain	UniProtKB/Swiss-Prot
	NOTCH1_EGF-like	UniProtKB/Swiss-Prot
KEGG Report	hsa:2192	UniProtKB/Swiss-Prot
NCBI Gene	2192	ENTREZGENE
OMIM	135820	OMIM
PANTHER	FIBRILLIN-1	UniProtKB/Swiss-Prot
	PA14 DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot
Pfam	ANATO	UniProtKB/Swiss-Prot
	cEGF	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
	Fibulin_C	UniProtKB/Swiss-Prot
PharmGKB	PA28013	PharmGKB
PIRSF	Fibulin-1	UniProtKB/Swiss-Prot
PROSITE	ANAPHYLATOXIN_1	UniProtKB/Swiss-Prot
	ANAPHYLATOXIN_2	UniProtKB/Swiss-Prot
	ASX_HYDROXYL	UniProtKB/Swiss-Prot
	EGF_2	UniProtKB/Swiss-Prot
	EGF_3	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
SMART	ANATO	UniProtKB/Swiss-Prot
	EGF	UniProtKB/Swiss-Prot
	EGF_CA	UniProtKB/Swiss-Prot
Superfamily-SCOP	EGF/Laminin	UniProtKB/Swiss-Prot
	SSF57184	UniProtKB/Swiss-Prot
UniProt	A0A0U1RRA4_HUMAN	UniProtKB/TrEMBL
	A0A8S0LWY1	ENTREZGENE, UniProtKB/TrEMBL
	A0A8S0MAG0	ENTREZGENE, UniProtKB/TrEMBL
	B0QY42	ENTREZGENE
	B1AHL2_HUMAN	UniProtKB/TrEMBL
	B1AHL4	ENTREZGENE
	B1AHM5_HUMAN	UniProtKB/TrEMBL
	B1AHM6_HUMAN	UniProtKB/TrEMBL
	B1AHM7_HUMAN	UniProtKB/TrEMBL
	B1AHM8_HUMAN	UniProtKB/TrEMBL
	B1AHM9_HUMAN	UniProtKB/TrEMBL
	B1AHN3_HUMAN	UniProtKB/TrEMBL
	FBLN1_HUMAN	UniProtKB/Swiss-Prot
	H7C1M6_HUMAN	UniProtKB/TrEMBL
	P23142	ENTREZGENE
	P23143	ENTREZGENE
	P23144	ENTREZGENE
	P37888	ENTREZGENE
	Q5TIC4	ENTREZGENE
	Q8NBH6	ENTREZGENE, UniProtKB/TrEMBL
	Q8TBH8	ENTREZGENE
	Q9HBQ5	ENTREZGENE
	Q9UC21	ENTREZGENE
	Q9UGR4	ENTREZGENE
	Q9UH41	ENTREZGENE
UniProt Secondary	B0QY42	UniProtKB/Swiss-Prot
	B1AHL4	UniProtKB/Swiss-Prot
	P23143	UniProtKB/Swiss-Prot
	P23144	UniProtKB/Swiss-Prot
	P37888	UniProtKB/Swiss-Prot
	Q5TIC4	UniProtKB/Swiss-Prot
	Q8TBH8	UniProtKB/Swiss-Prot
	Q9HBQ5	UniProtKB/Swiss-Prot
	Q9UC21	UniProtKB/Swiss-Prot
	Q9UGR4	UniProtKB/Swiss-Prot
	Q9UH41	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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