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Gene: CIB1 (calcium and integrin binding 1) Homo sapiens

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Symbol:

CIB1

Name:

calcium and integrin binding 1

RGD ID:

732228

HGNC Page

HGNC:16920

Description:

Enables several functions, including calcium ion binding activity; calcium-dependent protein kinase inhibitor activity; and small GTPase binding activity. Involved in several processes, including negative regulation of cellular component organization; positive regulation of cell adhesion; and positive regulation of protein localization to membrane. Located in several cellular components, including centrosome; filopodium tip; and sarcolemma. Implicated in epidermodysplasia verruciformis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

calcium and integrin binding 1 (calmyrin); calcium and integrin binding protein; calcium and integrin binding protein 1; calcium and integrin binding, protein kinase interacting protein; calcium and integrin-binding protein 1; calcium- and integrin-binding protein; calmyrin; CIB; CIBP; DNA-dependent protein kinase interacting protein; DNA-PK interaction protein; DNA-PKcs-interacting protein; EV3; kinase-interacting protein; KIP; KIP1; PRKDCIP; SIP2-28; Snk interacting protein 2-28; SNK-interacting protein 2-28; testicular secretory protein Li 9

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):	Cib1 (calcium and integrin binding 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cib1 (calcium and integrin binding 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cib1 (calcium and integrin binding 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CIB1 (calcium and integrin binding 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	CIB1 (calcium and integrin binding 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cib1 (calcium and integrin binding 1)	NCBI	Ortholog
Sus scrofa (pig):	CIB1 (calcium and integrin binding 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CIB1 (calcium and integrin binding 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cib1 (calcium and integrin binding 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	H2az1-ps2 (H2A.Z variant histone 1, pseudogene 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cib1 (calcium and integrin binding 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cib1 (calcium and integrin binding 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cib1 (calcium and integrin binding 1 (calmyrin))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	cib1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	cib1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cib1.S	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	15	90,229,975 - 90,265,759 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	90,229,975 - 90,234,047 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	90,773,207 - 90,808,991 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	88,574,481 - 88,578,168 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	88,574,481 - 88,578,164	NCBI
Celera	15	67,177,856 - 67,181,658 (-)	NCBI		Celera
Cytogenetic Map	15	q26.1	NCBI
HuRef	15	66,885,466 - 66,920,950 (-)	NCBI		HuRef
CHM1_1	15	90,615,325 - 90,650,739 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	87,985,982 - 88,021,749 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CIB1	Human	Alzheimer's disease		ISO	RGD:620133	10401854	protein:decreased expression:brain (human)	RGD
CIB1	Human	Huntington's disease		ISO	RGD:732229	10401859	mRNA:increased expression:head of caudate nucleus (mouse)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CIB1	Human	Bloom syndrome		IAGP	RGD:405877847	8554872	ClinVar Annotator: match by term: Bloom syndrome	ClinVar	PMID:17407155\|PMID:28492532
CIB1	Human	Bloom syndrome		IAGP	RGD:126736038	8554872	ClinVar Annotator: match by term: Bloom syndrome	ClinVar	PMID:28492532
CIB1	Human	colorectal cancer		IAGP	RGD:126736038	8554872	ClinVar Annotator: match by term: Familial colorectal cancer	ClinVar	PMID:28492532
CIB1	Human	D-2-hydroxyglutaric aciduria 2		IAGP	RGD:405877847	8554872	ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2	ClinVar	PMID:17407155\|PMID:28492532
CIB1	Human	D-2-hydroxyglutaric aciduria 2		IAGP	RGD:156440981	8554872	ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2	ClinVar	PMID:28492532
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:14350335	8554872	ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3	ClinVar	PMID:20982046\|PMID:21196704\|PMID:28646613\|PMID:30068544
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:127292609\|RGD:127303756\|RGD:127307682\|RGD:15161496\|RGD:405274022	8554872	ClinVar Annotator: match by term: CIB1-related condition	ClinVar	PMID:28492532
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:14350337\|RGD:14350342	8554872	ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3	ClinVar	PMID:30068544
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:127307754\|RGD:15161302\|RGD:15161503	8554872	ClinVar Annotator: match by term: CIB1-related condition	ClinVar	PMID:25741868\|PMID:28492532
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:14350340	8554872	ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3	ClinVar	PMID:19702156\|PMID:28492532\|PMID:30068544
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:405708570	8554872	ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3	ClinVar	PMID:25741868
CIB1	Human	Epidermodysplasia Verruciformis 3		IAGP	RGD:14350339	8554872	ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3	ClinVar	PMID:228581\|PMID:30068544

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CIB1	Human	Epidermodysplasia Verruciformis 3	susceptibility	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)
CIB1	Human	(+)-pilocarpine	increases expression	ISO	RGD:620133	6480464	Pilocarpine results in increased expression of CIB1 mRNA	CTD	PMID:17971868
CIB1	Human	(S)-nicotine	multiple interactions	ISO	RGD:732229	6480464	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of CIB1 mRNA; Nicotine inhibits the reaction more ...	CTD	PMID:20230807
CIB1	Human	1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine	increases expression	ISO	RGD:732229	6480464	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of CIB1 mRNA	CTD	PMID:20230807
CIB1	Human	1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine	increases response to substance	ISO	RGD:732229	6480464	CIB1 gene mutant form results in increased susceptibility to 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	CTD	PMID:28939911
CIB1	Human	1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine	multiple interactions	ISO	RGD:732229	6480464	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of CIB1 mRNA; CIB1 gene mutant form more ...	CTD	PMID:20230807\|PMID:28939911
CIB1	Human	17alpha-ethynylestradiol	affects expression	ISO	RGD:732229	6480464	Ethinyl Estradiol affects the expression of CIB1 mRNA	CTD	PMID:17555576
CIB1	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:620133	6480464	Ethinyl Estradiol results in increased expression of CIB1 mRNA	CTD	PMID:17557909
CIB1	Human	17alpha-ethynylestradiol	multiple interactions	ISO	RGD:732229	6480464	[Ibuprofen co-treated with hydroxyibuprofen co-treated with Diclofenac co-treated with Ethinyl Estradiol] results in decreased expression more ...	CTD	PMID:17942748\|PMID:37844793
CIB1	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:732229	6480464	Ethinyl Estradiol results in increased expression of CIB1 mRNA	CTD	PMID:17942748
CIB1	Human	17beta-estradiol	increases expression	ISO	RGD:620133	6480464	Estradiol results in increased expression of CIB1 mRNA	CTD	PMID:32145629
CIB1	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:732229	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CIB1 mRNA	CTD	PMID:17942748
CIB1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:620133	6480464	Tetrachlorodibenzodioxin results in increased expression of CIB1 mRNA	CTD	PMID:33387578
CIB1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:732229	6480464	Tetrachlorodibenzodioxin affects the expression of CIB1 mRNA	CTD	PMID:21570461
CIB1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of CIB1 mRNA	CTD	PMID:20106945\|PMID:21632981
CIB1	Human	2,6-dinitrotoluene	affects expression	ISO	RGD:620133	6480464	2,6-dinitrotoluene affects the expression of CIB1 mRNA	CTD	PMID:21346803
CIB1	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of CIB1 mRNA	CTD	PMID:37199045
CIB1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:732229	6480464	bisphenol S results in increased expression of CIB1 mRNA	CTD	PMID:39298647
CIB1	Human	4-hydroxyphenyl retinamide	increases expression	ISO	RGD:732229	6480464	Fenretinide results in increased expression of CIB1 mRNA	CTD	PMID:28973697
CIB1	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:620133	6480464	Propylthiouracil results in increased expression of CIB1 mRNA	CTD	PMID:30047161
CIB1	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of CIB1 mRNA	CTD	PMID:23724009
CIB1	Human	amitrole	increases expression	ISO	RGD:620133	6480464	Amitrole results in increased expression of CIB1 mRNA	CTD	PMID:30047161
CIB1	Human	ammonium chloride	affects expression	ISO	RGD:620133	6480464	Ammonium Chloride affects the expression of CIB1 mRNA	CTD	PMID:16483693
CIB1	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of CIB1 mRNA	CTD	PMID:24449571
CIB1	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of CIB1 mRNA	CTD	PMID:33212167
CIB1	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of CIB1 mRNA	CTD	PMID:22521957
CIB1	Human	azoxystrobin	increases expression	EXP		6480464	azoxystrobin results in increased expression of CIB1 mRNA	CTD	PMID:33512557
CIB1	Human	benzo[a]pyrene	decreases expression	ISO	RGD:732229	6480464	Benzo(a)pyrene results in decreased expression of CIB1 mRNA	CTD	PMID:21715664
CIB1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of CIB1 intron	CTD	PMID:30157460
CIB1	Human	bis(2-ethylhexyl) phthalate	increases expression	EXP		6480464	Diethylhexyl Phthalate results in increased expression of CIB1 mRNA	CTD	PMID:31163220
CIB1	Human	bisphenol A	multiple interactions	ISO	RGD:620133	6480464	[bisphenol A co-treated with Testosterone] results in increased expression of CIB1 mRNA	CTD	PMID:26496021
CIB1	Human	bisphenol A	increases expression	ISO	RGD:732229	6480464	bisphenol A results in increased expression of CIB1 mRNA	CTD	PMID:33221593
CIB1	Human	bisphenol A	increases methylation	ISO	RGD:620133	6480464	bisphenol A results in increased methylation of CIB1 gene	CTD	PMID:28505145
CIB1	Human	bisphenol A	increases expression	ISO	RGD:620133	6480464	bisphenol A results in increased expression of CIB1 mRNA	CTD	PMID:25181051\|PMID:32145629
CIB1	Human	bisphenol F	decreases expression	ISO	RGD:732229	6480464	bisphenol F results in decreased expression of CIB1 mRNA	CTD	PMID:38685157
CIB1	Human	capecitabine	increases response to substance	EXP		6480464	CIB1 protein results in increased susceptibility to Capecitabine	CTD	PMID:16734730
CIB1	Human	chloropicrin	increases expression	EXP		6480464	chloropicrin results in increased expression of CIB1 mRNA	CTD	PMID:26352163
CIB1	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of CIB1 mRNA	CTD	PMID:27392435
CIB1	Human	copper atom	decreases expression	ISO	RGD:620133	6480464	Copper results in decreased expression of CIB1 mRNA	CTD	PMID:30556269
CIB1	Human	copper(0)	decreases expression	ISO	RGD:620133	6480464	Copper results in decreased expression of CIB1 mRNA	CTD	PMID:30556269
CIB1	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of CIB1 mRNA	CTD	PMID:22521957
CIB1	Human	diclofenac	multiple interactions	ISO	RGD:732229	6480464	[Ibuprofen co-treated with hydroxyibuprofen co-treated with Diclofenac co-treated with Ethinyl Estradiol] results in decreased expression more ...	CTD	PMID:37844793
CIB1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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
CIB1	Human	doxifluridine	increases response to substance	EXP		6480464	CIB1 protein results in increased susceptibility to doxifluridine	CTD	PMID:16734730
CIB1	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of CIB1 mRNA	CTD	PMID:36634904
CIB1	Human	fenthion	decreases expression	ISO	RGD:732229	6480464	Fenthion results in decreased expression of CIB1 mRNA	CTD	PMID:34813904
CIB1	Human	folpet	increases expression	ISO	RGD:732229	6480464	folpet results in increased expression of CIB1 mRNA	CTD	PMID:31558096
CIB1	Human	fulvestrant	increases methylation	EXP		6480464	Fulvestrant results in increased methylation of CIB1 gene	CTD	PMID:31601247
CIB1	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of CIB1 mRNA	CTD	PMID:17183730
CIB1	Human	ibuprofen	multiple interactions	ISO	RGD:732229	6480464	[Ibuprofen co-treated with hydroxyibuprofen co-treated with Diclofenac co-treated with Ethinyl Estradiol] results in decreased expression more ...	CTD	PMID:37844793
CIB1	Human	methidathion	decreases expression	ISO	RGD:732229	6480464	methidathion results in decreased expression of CIB1 mRNA	CTD	PMID:34813904
CIB1	Human	methimazole	increases expression	ISO	RGD:620133	6480464	Methimazole results in increased expression of CIB1 mRNA	CTD	PMID:30047161
CIB1	Human	N-methyl-4-phenylpyridinium	multiple interactions	ISO	RGD:620133	6480464	CIB1 protein inhibits the reaction [1-Methyl-4-phenylpyridinium promotes the reaction [MAP3K5 protein binds to MAP2K7 protein]]; more ...	CTD	PMID:28939911
CIB1	Human	N-methyl-4-phenylpyridinium	decreases response to substance	ISO	RGD:620133	6480464	CIB1 protein results in decreased susceptibility to 1-Methyl-4-phenylpyridinium	CTD	PMID:28939911
CIB1	Human	N-methyl-4-phenylpyridinium	decreases response to substance	EXP		6480464	CIB1 protein results in decreased susceptibility to 1-Methyl-4-phenylpyridinium	CTD	PMID:28939911
CIB1	Human	nicotine	multiple interactions	ISO	RGD:732229	6480464	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of CIB1 mRNA; Nicotine inhibits the reaction more ...	CTD	PMID:20230807
CIB1	Human	nitrates	multiple interactions	ISO	RGD:732229	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of CIB1 more ...	CTD	PMID:35964746
CIB1	Human	ochratoxin A	decreases expression	ISO	RGD:620133	6480464	ochratoxin A results in decreased expression of CIB1 mRNA	CTD	PMID:18417182
CIB1	Human	ozone	multiple interactions	ISO	RGD:732229	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in increased more ...	CTD	PMID:34911549
CIB1	Human	p-chloromercuribenzoic acid	decreases expression	EXP		6480464	p-Chloromercuribenzoic Acid results in decreased expression of CIB1 mRNA	CTD	PMID:26272509
CIB1	Human	p-chloromercuribenzoic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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
CIB1	Human	paracetamol	increases expression	ISO	RGD:620133	6480464	Acetaminophen results in increased expression of CIB1 mRNA	CTD	PMID:33387578
CIB1	Human	paraquat	decreases expression	EXP		6480464	Paraquat results in decreased expression of CIB1 mRNA	CTD	PMID:35182771
CIB1	Human	parathion	decreases expression	ISO	RGD:732229	6480464	Parathion results in decreased expression of CIB1 mRNA	CTD	PMID:34813904
CIB1	Human	perfluorooctanoic acid	increases expression	EXP		6480464	perfluorooctanoic acid results in increased expression of CIB1 protein	CTD	PMID:26879310
CIB1	Human	picoxystrobin	increases expression	EXP		6480464	picoxystrobin results in increased expression of CIB1 mRNA	CTD	PMID:33512557
CIB1	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of CIB1 mRNA	CTD	PMID:33512557
CIB1	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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
CIB1	Human	senecionine	increases expression	ISO	RGD:732229	6480464	senecionine results in increased expression of CIB1 protein	CTD	PMID:35357534
CIB1	Human	sodium arsenite	decreases expression	ISO	RGD:732229	6480464	sodium arsenite results in decreased expression of CIB1 mRNA	CTD	PMID:36209798
CIB1	Human	sulfadimethoxine	increases expression	ISO	RGD:620133	6480464	Sulfadimethoxine results in increased expression of CIB1 mRNA	CTD	PMID:30047161
CIB1	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of CIB1 mRNA	CTD	PMID:31533062
CIB1	Human	tamoxifen	affects expression	ISO	RGD:732229	6480464	Tamoxifen affects the expression of CIB1 mRNA	CTD	PMID:17555576
CIB1	Human	testosterone	multiple interactions	ISO	RGD:620133	6480464	[bisphenol A co-treated with Testosterone] results in increased expression of CIB1 mRNA	CTD	PMID:26496021
CIB1	Human	tetrachloroethene	decreases expression	ISO	RGD:732229	6480464	Tetrachloroethylene results in decreased expression of CIB1 mRNA	CTD	PMID:28973375
CIB1	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of CIB1 mRNA	CTD	PMID:38568856
CIB1	Human	titanium dioxide	increases expression	ISO	RGD:732229	6480464	titanium dioxide results in increased expression of CIB1 mRNA	CTD	PMID:23131501
CIB1	Human	titanium dioxide	decreases methylation	ISO	RGD:732229	6480464	titanium dioxide results in decreased methylation of CIB1 gene	CTD	PMID:35295148
CIB1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of CIB1 mRNA	CTD	PMID:37042841
CIB1	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of CIB1 mRNA; [NOG protein co-treated more ...	CTD	PMID:17183730\|PMID:27188386
CIB1	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of CIB1 mRNA	CTD	PMID:19101580\|PMID:23179753\|PMID:24383497\|PMID:26272509\|PMID:27188386\|PMID:28001369\|PMID:29154799
CIB1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of CIB1 gene	CTD	PMID:29154799
CIB1	Human	valproic acid	affects expression	ISO	RGD:732229	6480464	Valproic Acid affects the expression of CIB1 mRNA	CTD	PMID:17963808
CIB1	Human	valproic acid	increases expression	ISO	RGD:732229	6480464	Valproic Acid results in increased expression of CIB1 mRNA	CTD	PMID:21427059
CIB1	Human	vinclozolin	increases expression	ISO	RGD:620133	6480464	vinclozolin results in increased expression of CIB1 mRNA	CTD	PMID:22570695
CIB1	Human	vinclozolin	decreases expression	ISO	RGD:620133	6480464	vinclozolin results in decreased expression of CIB1 mRNA	CTD	PMID:23034163
CIB1	Human	vinclozolin	decreases methylation	ISO	RGD:620133	6480464	vinclozolin results in decreased methylation of CIB1 gene	CTD	PMID:31079544
CIB1	Human	VX nerve agent	increases expression	EXP		6480464	VX-agent results in increased expression of CIB1 mRNA	CTD	PMID:38555327

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)
CIB1	Human	angiogenesis	involved_in	IEA	UniProtKB-KW:KW-0037	150520179		UniProt	GO_REF:0000043
CIB1	Human	apoptotic process	involved_in	IEA	UniProtKB-KW:KW-0053	150520179		UniProt	GO_REF:0000043
CIB1	Human	apoptotic process	involved_in	IMP		150520179	PMID:10366599	HGNC-UCL	PMID:10366599
CIB1	Human	cell adhesion	involved_in	IEA	UniProtKB-KW:KW-0130	150520179		UniProt	GO_REF:0000043
CIB1	Human	cell adhesion	involved_in	TAS		150520179	PMID:9030514	PINC	PMID:9030514
CIB1	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
CIB1	Human	cell division	involved_in	IEA	UniProtKB-KW:KW-0132	150520179		UniProt	GO_REF:0000043
CIB1	Human	cellular response to growth factor stimulus	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	cellular response to growth factor stimulus	involved_in	IBA	MGI:1344418\|PANTHER:PTN000551386\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	cellular response to growth factor stimulus	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	cellular response to nerve growth factor stimulus	involved_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	cellular response to tumor necrosis factor	involved_in	IMP		150520179	PMID:19854831	UniProt	PMID:19854831
CIB1	Human	cytoplasmic microtubule organization	involved_in	IMP		150520179	PMID:20951827	UniProt	PMID:20951827
CIB1	Human	DNA damage response	involved_in	IDA		150520179	PMID:12011095	HGNC-UCL	PMID:12011095
CIB1	Human	double-strand break repair	involved_in	TAS		150520179	PMID:9372844	PINC	PMID:9372844
CIB1	Human	endomitotic cell cycle	involved_in	IDA		150520179	PMID:21264284	UniProt	PMID:21264284
CIB1	Human	extrinsic apoptotic signaling pathway	involved_in	TAS		150520179	PMID:19805025	BHF-UCL	PMID:19805025
CIB1	Human	negative regulation of apoptotic process	involved_in	IMP		150520179	PMID:19854831	UniProt	PMID:19854831
CIB1	Human	negative regulation of apoptotic process	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	negative regulation of cell population proliferation	involved_in	IMP		150520179	PMID:21264284	UniProt	PMID:21264284
CIB1	Human	negative regulation of megakaryocyte differentiation	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	negative regulation of megakaryocyte differentiation	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	negative regulation of microtubule depolymerization	involved_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	negative regulation of neuron projection development	involved_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	negative regulation of protein phosphorylation	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	platelet formation	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	platelet formation	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of calcineurin-NFAT signaling cascade	involved_in	IDA		150520179	PMID:20639889	BHF-UCL	PMID:20639889
CIB1	Human	positive regulation of calcineurin-NFAT signaling cascade	involved_in	IBA	MGI:1344418\|PANTHER:PTN000551386\|RGD:620133\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	positive regulation of calcineurin-NFAT signaling cascade	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of catalytic activity	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of cell adhesion mediated by integrin	involved_in	IDA		150520179	PMID:11756406	UniProt	PMID:11756406
CIB1	Human	positive regulation of cell growth	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of cell growth	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of cell migration	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of cell migration	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of cell migration involved in sprouting angiogenesis	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of cell migration involved in sprouting angiogenesis	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of cell population proliferation	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of cell population proliferation	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of cell-matrix adhesion	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of cell-matrix adhesion	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of ERK1 and ERK2 cascade	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of ERK1 and ERK2 cascade	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of male germ cell proliferation	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of male germ cell proliferation	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of NF-kappaB transcription factor activity	involved_in	IMP		150520179	PMID:19854831	UniProt	PMID:19854831
CIB1	Human	positive regulation of protein localization to plasma membrane	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	positive regulation of protein localization to plasma membrane	involved_in	IBA	MGI:1344418\|PANTHER:PTN000551386\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	positive regulation of protein localization to plasma membrane	involved_in	IGI	UniProtKB:Q9Z0F4	150520179	PMID:20639889	BHF-UCL	PMID:20639889
CIB1	Human	positive regulation of protein phosphorylation	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of protein serine/threonine kinase activity	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	positive regulation of protein targeting to membrane	involved_in	IMP		150520179	PMID:19854831	UniProt	PMID:19854831
CIB1	Human	positive regulation of substrate adhesion-dependent cell spreading	involved_in	IDA		150520179	PMID:11756406	UniProt	PMID:11756406
CIB1	Human	regulation of cell division	involved_in	IMP		150520179	PMID:20951827	UniProt	PMID:20951827
CIB1	Human	regulation of cell population proliferation	involved_in	IMP		150520179	PMID:20951827	UniProt	PMID:20951827
CIB1	Human	response to ischemia	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	response to ischemia	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	spermatid development	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	spermatid development	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	spermatogenesis	involved_in	IEA	UniProtKB-KW:KW-0744	150520179		UniProt	GO_REF:0000043
CIB1	Human	thrombopoietin-mediated signaling pathway	involved_in	ISS	UniProtKB:Q9Z0F4	150520179		UniProt	GO_REF:0000024
CIB1	Human	thrombopoietin-mediated signaling pathway	involved_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107

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)
CIB1	Human	apical plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0015	150520179		UniProt	GO_REF:0000044
CIB1	Human	axon		ISO	RGD:620133	9068941		RGD	PMID:16257512\|REF_RGD_ID:10401856
CIB1	Human	axon	is_active_in	IBA	PANTHER:PTN000551386\|RGD:620133\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	cell periphery	located_in	IDA		150520179	PMID:11756406, PMID:20951827	UniProt	PMID:11756406\|PMID:20951827
CIB1	Human	cell projection	located_in	IEA	UniProtKB-KW:KW-0966	150520179		UniProt	GO_REF:0000043
CIB1	Human	centrosome	located_in	IEA	UniProtKB-SubCell:SL-0048	150520179		UniProt	GO_REF:0000044
CIB1	Human	centrosome	located_in	IDA		150520179	PMID:20951827	UniProt	PMID:20951827
CIB1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
CIB1	Human	cytoplasm	is_active_in	IBA	MGI:1344418\|PANTHER:PTN000551386\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	cytoplasm	located_in	IDA		150520179	PMID:11756406, PMID:19854831, PMID:20639889, PMID:21215777	BHF-UCL	PMID:11756406\|PMID:19854831\|PMID:20639889\|PMID:21215777
CIB1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
CIB1	Human	cytoplasm	located_in	IMP		150520179	PMID:10366599	HGNC-UCL	PMID:10366599
CIB1	Human	cytoplasm	located_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	cytoskeleton	located_in	IEA	UniProtKB-SubCell:SL-0090	150520179		UniProt	GO_REF:0000044
CIB1	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
CIB1	Human	dendrite		ISO	RGD:620133	9068941		RGD	PMID:10523297\|REF_RGD_ID:61555
CIB1	Human	endoplasmic reticulum	located_in	IMP		150520179	PMID:10366599	HGNC-UCL	PMID:10366599
CIB1	Human	extracellular exosome	located_in	HDA		150520179	PMID:19056867, PMID:20458337, PMID:23533145	UniProt	PMID:19056867\|PMID:20458337\|PMID:23533145
CIB1	Human	filopodium tip	located_in	IEA	UniProtKB-SubCell:SL-0470	150520179		UniProt	GO_REF:0000044
CIB1	Human	filopodium tip	located_in	IDA		150520179	PMID:20951827	UniProt	PMID:20951827
CIB1	Human	Golgi apparatus	located_in	IEA	UniProtKB-SubCell:SL-0132	150520179		UniProt	GO_REF:0000044
CIB1	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
CIB1	Human	growth cone	located_in	IEA	UniProtKB-SubCell:SL-0288	150520179		UniProt	GO_REF:0000044
CIB1	Human	growth cone	located_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	lamellipodium	located_in	IEA	UniProtKB-SubCell:SL-0291	150520179		UniProt	GO_REF:0000044
CIB1	Human	lamellipodium	located_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	membrane	located_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
CIB1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
CIB1	Human	membrane	located_in	IDA		150520179	PMID:10366599	HGNC-UCL	PMID:10366599
CIB1	Human	neuron projection	located_in	IEA	UniProtKB-SubCell:SL-0518	150520179		UniProt	GO_REF:0000044
CIB1	Human	neuron projection	located_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	neuronal cell body		ISO	RGD:620133	9068941		RGD	PMID:10523297\|REF_RGD_ID:61555
CIB1	Human	neuronal cell body	is_active_in	IBA	PANTHER:PTN000551386\|RGD:620133\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	neuronal cell body	located_in	IDA		150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	nuclear body	located_in	IDA		150520179		HPA	GO_REF:0000052
CIB1	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
CIB1	Human	nucleoplasm	located_in	IMP		150520179	PMID:10366599	HGNC-UCL	PMID:10366599
CIB1	Human	nucleus	located_in	IDA		150520179	PMID:11756406, PMID:30068544	UniProt	PMID:11756406\|PMID:30068544
CIB1	Human	nucleus	is_active_in	IBA	PANTHER:PTN000551386\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
CIB1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
CIB1	Human	perikaryon	located_in	IEA	UniProtKB-SubCell:SL-0197	150520179		UniProt	GO_REF:0000044
CIB1	Human	perinuclear region of cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0198	150520179		UniProt	GO_REF:0000044
CIB1	Human	perinuclear region of cytoplasm	located_in	IDA		150520179	PMID:11756406	UniProt	PMID:11756406
CIB1	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
CIB1	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
CIB1	Human	plasma membrane	part_of	IDA		150520179	PMID:20473878	CACAO	PMID:20473878
CIB1	Human	plasma membrane	located_in	IDA		150520179	PMID:19854831	HPA	GO_REF:0000052\|PMID:19854831
CIB1	Human	ruffle membrane	located_in	IEA	UniProtKB-SubCell:SL-0301	150520179		UniProt	GO_REF:0000044
CIB1	Human	sarcolemma	located_in	IEA	UniProtKB-SubCell:SL-0238	150520179		UniProt	GO_REF:0000044
CIB1	Human	sarcolemma	is_active_in	IBA	MGI:1344418\|PANTHER:PTN000551386\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	sarcolemma	located_in	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	sarcolemma	located_in	IDA		150520179	PMID:20639889	BHF-UCL	PMID:20639889
CIB1	Human	vesicle	located_in	HDA		150520179	PMID:19190083	UniProt	PMID:19190083

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)
CIB1	Human	calcium ion binding	enables	IMP		150520179	PMID:15475008	HGNC-UCL	PMID:15475008
CIB1	Human	calcium ion binding	enables	IBA	MGI:1929293\|PANTHER:PTN002507469\|UniProtKB:A0PJX0\|UniProtKB:O75838\|UniProtKB:Q96Q77\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	calcium ion binding	enables	IEA	InterPro:IPR002048	150520179		InterPro	GO_REF:0000002
CIB1	Human	calcium-dependent protein kinase inhibitor activity	enables	IMP		150520179	PMID:20473878	CACAO	PMID:20473878
CIB1	Human	magnesium ion binding	enables	IBA	PANTHER:PTN002507469\|UniProtKB:A0PJX0\|UniProtKB:O75838\|UniProtKB:Q96Q77	150520179		GO_Central	GO_REF:0000033
CIB1	Human	membrane-membrane adaptor activity	enables	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107
CIB1	Human	membrane-membrane adaptor activity	enables	IBA	MGI:1344418\|PANTHER:PTN000551386\|UniProtKB:Q99828	150520179		GO_Central	GO_REF:0000033
CIB1	Human	membrane-membrane adaptor activity	enables	IGI	UniProtKB:Q9Z0F4	150520179	PMID:20639889	BHF-UCL	PMID:20639889
CIB1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
CIB1	Human	protein binding	enables	IPI	UniProtKB:Q7Z403\|UniProtKB:Q8IU68	150520179	PMID:30068544, PMID:32917726	UniProt	PMID:30068544\|PMID:32917726
CIB1	Human	protein binding	enables	IPI	UniProtKB:O95071	150520179	PMID:12011095	HGNC-UCL	PMID:12011095
CIB1	Human	protein binding	enables	IPI	UniProtKB:Q9H4B4	150520179	PMID:20951827, PMID:21264284	UniProt	PMID:20951827\|PMID:21264284
CIB1	Human	protein binding	enables	IPI	UniProtKB:O00746\|UniProtKB:O43639\|UniProtKB:O60422\|UniProtKB:P04066\|UniProtKB:P10092\|UniProtKB:P23759-2\|UniProtKB:P26842\|UniProtKB:P40199\|UniProtKB:P48449\|UniProtKB:Q04637-9\|UniProtKB:Q3KNT9\|UniProtKB:Q3SY00\|UniProtKB:Q6UXG2-3\|UniProtKB:Q6ZSB9\|UniProtKB:Q7RTT5\|UniProtKB:Q8NEA6-2\|UniProtKB:Q9H7N4	150520179	PMID:32296183	IntAct	PMID:32296183
CIB1	Human	protein binding	enables	IPI	UniProtKB:P05362\|UniProtKB:P61981\|UniProtKB:Q15047-2\|UniProtKB:Q7Z699\|UniProtKB:Q8TAP4-4\|UniProtKB:Q92993	150520179	PMID:32814053	IntAct	PMID:32814053
CIB1	Human	protein binding	enables	IPI	UniProtKB:P09912	150520179	PMID:15685448	HGNC-UCL	PMID:15685448
CIB1	Human	protein binding	enables	IPI	UniProtKB:O00401	150520179	PMID:16582881	IntAct	PMID:16582881
CIB1	Human	protein binding	enables	IPI	UniProtKB:Q9NYA1	150520179	PMID:19854831	UniProt	PMID:19854831
CIB1	Human	protein binding	enables	IPI	UniProtKB:P06756\|UniProtKB:P08648	150520179	PMID:24011356	UniProt	PMID:24011356
CIB1	Human	protein binding	enables	IPI	UniProtKB:P08514	150520179	PMID:22779914	UniProt	PMID:22779914
CIB1	Human	protein binding	enables	IPI	UniProtKB:Q99683	150520179	PMID:19805025	IntAct	PMID:19805025
CIB1	Human	protein binding	enables	IPI	UniProtKB:P49810	150520179	PMID:10366599	HGNC-UCL	PMID:10366599
CIB1	Human	protein binding	enables	IPI	UniProtKB:P63098\|UniProtKB:Q63810-1\|UniProtKB:Q63810-2	150520179	PMID:20639889	BHF-UCL	PMID:20639889
CIB1	Human	protein binding	enables	IPI	UniProtKB:Q93045	150520179	PMID:21215777	UniProt	PMID:21215777
CIB1	Human	protein binding		ISO	RGD:620760	9068941	protein C-terminus binding	RGD	PMID:10523297\|REF_RGD_ID:61555
CIB1	Human	protein kinase binding		ISO	RGD:620760	9068941		RGD	PMID:10523297\|REF_RGD_ID:61555
CIB1	Human	protein kinase binding		ISO	RGD:62039	9068941		RGD	PMID:10523297\|REF_RGD_ID:61555
CIB1	Human	protein serine/threonine kinase inhibitor activity	enables	IDA		150520179	PMID:20473878	CACAO	PMID:20473878
CIB1	Human	small GTPase binding	enables	IPI	UniProtKB:P60763	150520179	PMID:11756406	UniProt	PMID:11756406
CIB1	Human	transmembrane transporter binding	enables	IEA	UniProtKB:Q9Z0F4\|ensembl:ENSMUSP00000070901	150520179		Ensembl	GO_REF:0000107

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CIB1	Human	Abnormality of the immune system		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:618267\|PMID:30068544
CIB1	Human	Basal cell carcinoma		IAGP		8699517		HPO	MIM:618267\|PMID:30068544
CIB1	Human	Childhood onset		IAGP		8699517		HPO	MIM:618267\|PMID:30068544
CIB1	Human	Epidermal acanthosis		IAGP		8699517		HPO	MIM:618267\|PMID:30068544
CIB1	Human	Hypopigmented skin patches		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Juvenile onset		IAGP		8699517		HPO	MIM:618267\|PMID:30068544
CIB1	Human	Multiple cafe-au-lait spots		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Palmar pits		IAGP		8699517		HPO	MIM:618267
CIB1	Human	Papule		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Pustule		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Recurrent skin infections		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Seborrheic dermatitis		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Skin plaque		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Squamous cell carcinoma		IAGP		8699517		HPO	MIM:618267\|PMID:30068544\|ORPHA:302
CIB1	Human	Telangiectasia of the skin		IAGP		8699517		HPO	ORPHA:302
CIB1	Human	Verrucae		IAGP		8699517		HPO	MIM:618267\|PMID:30068544\|ORPHA:302
CIB1	Human	Young adult onset		IAGP		8699517		HPO	MIM:618267\|PMID:30068544

#	Reference Title	Reference Citation
1.	The Alzheimer disease-related calcium-binding protein Calmyrin is present in human forebrain with an altered distribution in Alzheimer's as compared to normal ageing brains.	Bernstein HG, etal., Neuropathol Appl Neurobiol. 2005 Jun;31(3):314-24.
2.	Expression of genes encoding the calcium signalosome in cellular and transgenic models of Huntington's disease.	Czeredys M, etal., Front Mol Neurosci. 2013 Nov 25;6:42. doi: 10.3389/fnmol.2013.00042. eCollection 2013.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:9030514	PMID:9372844	PMID:9852683	PMID:10366599	PMID:10523297	PMID:10745097	PMID:10822252	PMID:10826701	PMID:11039900	PMID:11756406	PMID:11856312	PMID:11997098
PMID:12011095	PMID:12023286	PMID:12477932	PMID:12651910	PMID:12714504	PMID:12881299	PMID:14992593	PMID:15190070	PMID:15203218	PMID:15231747	PMID:15475008	PMID:15489334
PMID:15574431	PMID:15604093	PMID:15685448	PMID:15933764	PMID:16061695	PMID:16418530	PMID:16582881	PMID:16723353	PMID:16825200	PMID:17516631	PMID:18627437	PMID:18989529
PMID:19056867	PMID:19190083	PMID:19388079	PMID:19805025	PMID:19854831	PMID:19913121	PMID:19923078	PMID:20458337	PMID:20473878	PMID:20628086	PMID:20639889	PMID:20951827
PMID:20959453	PMID:21215777	PMID:21264284	PMID:21388953	PMID:21748785	PMID:21857112	PMID:21873635	PMID:21988832	PMID:22547769	PMID:22779914	PMID:22964641	PMID:23376485
PMID:23503467	PMID:23533145	PMID:24011356	PMID:24163826	PMID:24464679	PMID:24550731	PMID:24585405	PMID:24705354	PMID:25012820	PMID:26105795	PMID:26845356	PMID:26972000
PMID:27489023	PMID:27941888	PMID:28514442	PMID:28542214	PMID:28939911	PMID:29017172	PMID:29028109	PMID:29125118	PMID:29644863	PMID:30068544	PMID:30884312	PMID:31452512
PMID:31530712	PMID:32296183	PMID:32307772	PMID:32814053	PMID:32917726	PMID:32917957	PMID:33082516	PMID:33961781	PMID:34349085	PMID:34794407	PMID:35914814	PMID:37187730
PMID:38451745	PMID:38993552

CIB1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	90,229,975 - 90,265,759 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	90,229,975 - 90,234,047 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	90,773,207 - 90,808,991 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	88,574,481 - 88,578,168 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	88,574,481 - 88,578,164	NCBI
Celera	15	67,177,856 - 67,181,658 (-)	NCBI		Celera
Cytogenetic Map	15	q26.1	NCBI
HuRef	15	66,885,466 - 66,920,950 (-)	NCBI		HuRef
CHM1_1	15	90,615,325 - 90,650,739 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	87,985,982 - 88,021,749 (-)	NCBI		T2T-CHM13v2.0

Cib1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	79,876,904 - 79,882,367 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	79,876,895 - 79,882,561 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	80,227,156 - 80,232,805 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	80,227,147 - 80,232,813 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	87,372,046 - 87,377,502 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	80,100,673 - 80,106,129 (-)	NCBI		MGSCv36	mm8
Celera	7	77,628,499 - 77,633,950 (-)	NCBI		Celera
Cytogenetic Map	7	D2	NCBI
cM Map	7	45.55	NCBI

Cib1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	143,587,591 - 143,593,153 (-)	NCBI		GRCr8
mRatBN7.2	1	134,178,331 - 134,183,895 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	134,178,331 - 134,213,423 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	142,087,063 - 142,092,596 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	149,256,463 - 149,261,996 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	142,174,501 - 142,180,032 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	142,014,962 - 142,020,461 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	142,014,958 - 142,020,525 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	142,969,357 - 142,974,856 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	136,031,865 - 136,045,153 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	136,110,270 - 136,123,559 (-)	NCBI
Celera	1	126,238,471 - 126,243,970 (-)	NCBI		Celera
Cytogenetic Map	1	q31	NCBI

Cib1
(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_004955416	15,102,632 - 15,106,372 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955416	15,102,632 - 15,106,372 (+)	NCBI	ChiLan1.0	ChiLan1.0

CIB1
(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	16	79,778,580 - 79,782,540 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	83,478,015 - 83,481,975 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	68,919,377 - 68,923,213 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	88,121,309 - 88,125,120 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

CIB1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	53,184,713 - 53,209,195 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	53,184,714 - 53,188,224 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	55,822,517 - 55,847,781 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	53,600,749 - 53,626,017 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	53,600,750 - 53,625,109 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	53,120,852 - 53,146,101 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	53,331,988 - 53,357,228 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	53,672,463 - 53,697,717 (-)	NCBI		UU_Cfam_GSD_1.0

Cib1
(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_024408640	130,366,977 - 130,370,657 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936483	15,960,036 - 15,968,094 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936483	15,963,863 - 15,967,458 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CIB1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	55,794,836 - 55,798,590 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	55,794,834 - 55,798,666 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	60,656,933 - 60,659,823 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CIB1
(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	29	8,777,202 - 8,781,027 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	29	8,777,436 - 8,781,030 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	37,949,545 - 37,953,393 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cib1
(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_004624768	17,209,639 - 17,213,114 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624768	17,209,639 - 17,212,996 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in CIB1
206 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	copy number gain	See cases [RCV000052354]	Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3	copy number gain	See cases [RCV000052347]	Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	copy number gain	See cases [RCV000052352]	Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3	pathogenic
NM_001013657.2(GDPGP1):c.275T>C (p.Val92Ala)	single nucleotide variant	Malignant melanoma [RCV000070954]	Chr15:90241183 [GRCh38] Chr15:90784415 [GRCh37] Chr15:88585419 [NCBI36] Chr15:15q26.1	not provided
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	copy number gain	See cases [RCV000135858]	Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	copy number gain	See cases [RCV000135568]	Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	copy number loss	See cases [RCV000135962]	Chr15:90216530..90767025 [GRCh38] Chr15:90759762..91310255 [GRCh37] Chr15:88560766..89111259 [NCBI36] Chr15:15q26.1	uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	copy number gain	See cases [RCV000136849]	Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	copy number gain	See cases [RCV000137264]	Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	copy number gain	See cases [RCV000141899]	Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	copy number gain	See cases [RCV000142727]	Chr15:88676575..98364743 [GRCh38] Chr15:89219806..98907972 [GRCh37] Chr15:87020810..96725495 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.1(chr15:90770832-90777093)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207263]	Chr15:90770832..90777093 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	copy number gain	See cases [RCV000449119]	Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3	pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	copy number loss	See cases [RCV000447603]	Chr15:90346994..102354798 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3	copy number gain	See cases [RCV000445978]	Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3	copy number gain	See cases [RCV000445705]	Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	copy number gain	See cases [RCV000448044]	Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	copy number loss	See cases [RCV000448680]	Chr15:88295992..94215607 [GRCh37] Chr15:15q25.3-26.1	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	copy number gain	See cases [RCV000511629]	Chr15:86899001..98734014 [GRCh37] Chr15:15q25.3-26.3	likely pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	copy number gain	not provided [RCV000683718]	Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	copy number gain	not provided [RCV000683710]	Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_006384.4(CIB1):c.248_249del (p.Lys83fs)	deletion	Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735845]	Chr15:90231454..90231455 [GRCh38] Chr15:90774686..90774687 [GRCh37] Chr15:15q26.1	risk factor
NM_006384.4(CIB1):c.465+1dup	duplication	Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735846]	Chr15:90231093..90231094 [GRCh38] Chr15:90774325..90774326 [GRCh37] Chr15:15q26.1	risk factor
NM_006384.4(CIB1):c.548_549dup (p.Ala184fs)	duplication	Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735847]	Chr15:90230938..90230939 [GRCh38] Chr15:90774170..90774171 [GRCh37] Chr15:15q26.1	risk factor
NM_006384.4(CIB1):c.214C>T (p.Arg72Ter)	single nucleotide variant	Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735848]\|not provided [RCV001869011]	Chr15:90231489 [GRCh38] Chr15:90774721 [GRCh37] Chr15:15q26.1	pathogenic\|risk factor
NM_006384.4(CIB1):c.52-2A>G	single nucleotide variant	Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735849]	Chr15:90233705 [GRCh38] Chr15:90776937 [GRCh37] Chr15:15q26.1	risk factor
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3	copy number gain	not provided [RCV000738864]	Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3	copy number gain	not provided [RCV000751387]	Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.1(chr15:90660359-90838393)x3	copy number gain	not provided [RCV000751388]	Chr15:90660359..90838393 [GRCh37] Chr15:15q26.1	benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
NM_006384.4(CIB1):c.444G>A (p.Glu148=)	single nucleotide variant	CIB1-related disorder [RCV003940432]\|not provided [RCV000881582]	Chr15:90231116 [GRCh38] Chr15:90774348 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.435T>C (p.Ser145=)	single nucleotide variant	CIB1-related disorder [RCV003920546]\|not provided [RCV000881583]	Chr15:90231125 [GRCh38] Chr15:90774357 [GRCh37] Chr15:15q26.1	benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	copy number loss	not provided [RCV000767759]	Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1	pathogenic
NM_006384.4(CIB1):c.87-84C>T	single nucleotide variant	CIB1-related disorder [RCV003970678]\|not provided [RCV000947647]\|not specified [RCV003489976]	Chr15:90232411 [GRCh38] Chr15:90775643 [GRCh37] Chr15:15q26.1	benign\|likely benign
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	copy number gain	not provided [RCV000846885]	Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	copy number loss	not provided [RCV001006718]	Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3	pathogenic
NC_000015.9:g.(?_90773716)_(90777117_?)dup	duplication	not provided [RCV003107321]	Chr15:90773716..90777117 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.638C>T (p.Ser213Leu)	single nucleotide variant	not specified [RCV004295340]	Chr15:90241546 [GRCh38] Chr15:90784778 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	copy number loss	See cases [RCV001263026]	Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3	pathogenic
NM_006384.4(CIB1):c.437C>T (p.Ala146Val)	single nucleotide variant	not provided [RCV001294658]	Chr15:90231123 [GRCh38] Chr15:90774355 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.460G>T (p.Asp154Tyr)	single nucleotide variant	not provided [RCV001310054]	Chr15:90231100 [GRCh38] Chr15:90774332 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_006384.4(CIB1):c.87-82A>G	single nucleotide variant	not provided [RCV001349618]	Chr15:90232409 [GRCh38] Chr15:90775641 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.417C>T (p.Gly139=)	single nucleotide variant	not provided [RCV001350779]	Chr15:90231143 [GRCh38] Chr15:90774375 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.347-9G>C	single nucleotide variant	not provided [RCV001440870]	Chr15:90231222 [GRCh38] Chr15:90774454 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.270C>T (p.Asp90=)	single nucleotide variant	not provided [RCV001499124]	Chr15:90231433 [GRCh38] Chr15:90774665 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.244G>A (p.Ala82Thr)	single nucleotide variant	CIB1-related disorder [RCV003940927]\|not provided [RCV001515594]	Chr15:90231459 [GRCh38] Chr15:90774691 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.119A>C (p.Gln40Pro)	single nucleotide variant	CIB1-related disorder [RCV003980478]\|not provided [RCV001510903]	Chr15:90232295 [GRCh38] Chr15:90775527 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.195+8C>T	single nucleotide variant	CIB1-related disorder [RCV003956105]\|not provided [RCV001500556]	Chr15:90232211 [GRCh38] Chr15:90775443 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.466-5C>G	single nucleotide variant	CIB1-related disorder [RCV003983940]\|not provided [RCV001517247]\|not specified [RCV003487364]	Chr15:90231027 [GRCh38] Chr15:90774259 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.87-13C>T	single nucleotide variant	not provided [RCV001459316]	Chr15:90232340 [GRCh38] Chr15:90775572 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.347-6_347-3del	microsatellite	not provided [RCV001520089]\|not specified [RCV003487389]	Chr15:90231216..90231219 [GRCh38] Chr15:90774448..90774451 [GRCh37] Chr15:15q26.1	benign
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	copy number loss	not provided [RCV001795547]	Chr15:88465861..94411846 [GRCh37] Chr15:15q25.3-26.2	pathogenic
NM_006384.4(CIB1):c.132C>A (p.Ser44Arg)	single nucleotide variant	not provided [RCV002025389]	Chr15:90232282 [GRCh38] Chr15:90775514 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-35G>A	single nucleotide variant	not provided [RCV001987772]	Chr15:90232362 [GRCh38] Chr15:90775594 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.476A>T (p.Glu159Val)	single nucleotide variant	not provided [RCV002042526]	Chr15:90231012 [GRCh38] Chr15:90774244 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.550G>C (p.Ala184Pro)	single nucleotide variant	not provided [RCV001969039]	Chr15:90230938 [GRCh38] Chr15:90774170 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	copy number loss	not provided [RCV001827973]	Chr15:89520451..93926491 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.164T>C (p.Phe55Ser)	single nucleotide variant	not provided [RCV002025188]	Chr15:90232250 [GRCh38] Chr15:90775482 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.133G>A (p.Val45Met)	single nucleotide variant	not provided [RCV001985117]	Chr15:90232281 [GRCh38] Chr15:90775513 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.140C>T (p.Ser47Leu)	single nucleotide variant	not provided [RCV002004578]	Chr15:90232274 [GRCh38] Chr15:90775506 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-35G>T	single nucleotide variant	not provided [RCV002021363]	Chr15:90232362 [GRCh38] Chr15:90775594 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.425C>G (p.Thr142Arg)	single nucleotide variant	not provided [RCV002024638]	Chr15:90231135 [GRCh38] Chr15:90774367 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.299A>G (p.Asp100Gly)	single nucleotide variant	not provided [RCV002004884]\|not specified [RCV004897713]	Chr15:90231404 [GRCh38] Chr15:90774636 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.507C>A (p.Asn169Lys)	single nucleotide variant	not provided [RCV002004894]	Chr15:90230981 [GRCh38] Chr15:90774213 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.536G>A (p.Arg179His)	single nucleotide variant	not provided [RCV002005844]	Chr15:90230952 [GRCh38] Chr15:90774184 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.323C>T (p.Ser108Phe)	single nucleotide variant	not provided [RCV002006126]	Chr15:90231380 [GRCh38] Chr15:90774612 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.226_228del (p.Val76del)	deletion	not provided [RCV001878728]	Chr15:90231475..90231477 [GRCh38] Chr15:90774707..90774709 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.388C>T (p.Arg130Trp)	single nucleotide variant	not provided [RCV001933718]	Chr15:90231172 [GRCh38] Chr15:90774404 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.538T>A (p.Ser180Thr)	single nucleotide variant	not provided [RCV001999380]	Chr15:90230950 [GRCh38] Chr15:90774182 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-34C>A	single nucleotide variant	not provided [RCV001973048]	Chr15:90232361 [GRCh38] Chr15:90775593 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-110G>C	single nucleotide variant	not provided [RCV001922837]	Chr15:90232437 [GRCh38] Chr15:90775669 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.421G>A (p.Asp141Asn)	single nucleotide variant	not provided [RCV002000939]	Chr15:90231139 [GRCh38] Chr15:90774371 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.215G>A (p.Arg72Gln)	single nucleotide variant	not provided [RCV001902443]	Chr15:90231488 [GRCh38] Chr15:90774720 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.460G>C (p.Asp154His)	single nucleotide variant	not provided [RCV001877052]\|not specified [RCV004897690]	Chr15:90231100 [GRCh38] Chr15:90774332 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.284T>C (p.Leu95Pro)	single nucleotide variant	not provided [RCV001977330]	Chr15:90231419 [GRCh38] Chr15:90774651 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.244G>C (p.Ala82Pro)	single nucleotide variant	not provided [RCV002049180]	Chr15:90231459 [GRCh38] Chr15:90774691 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.361G>A (p.Gly121Arg)	single nucleotide variant	not provided [RCV001989786]\|not specified [RCV004612033]	Chr15:90231199 [GRCh38] Chr15:90774431 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.60G>A (p.Thr20=)	single nucleotide variant	not provided [RCV001973199]	Chr15:90233695 [GRCh38] Chr15:90776927 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.8G>A (p.Gly3Asp)	single nucleotide variant	not provided [RCV001975600]	Chr15:90233878 [GRCh38] Chr15:90777110 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.369G>C (p.Leu123Phe)	single nucleotide variant	not provided [RCV001973276]\|not specified [RCV004897719]	Chr15:90231191 [GRCh38] Chr15:90774423 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.547T>C (p.Phe183Leu)	single nucleotide variant	not provided [RCV001904090]	Chr15:90230941 [GRCh38] Chr15:90774173 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.13G>A (p.Gly5Ser)	single nucleotide variant	not provided [RCV002016175]	Chr15:90233873 [GRCh38] Chr15:90777105 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.148C>G (p.Arg50Gly)	single nucleotide variant	not provided [RCV001980550]	Chr15:90232266 [GRCh38] Chr15:90775498 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-40C>T	single nucleotide variant	not provided [RCV001880376]	Chr15:90232367 [GRCh38] Chr15:90775599 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.506A>G (p.Asn169Ser)	single nucleotide variant	not provided [RCV002017158]	Chr15:90230982 [GRCh38] Chr15:90774214 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.338G>A (p.Arg113His)	single nucleotide variant	not provided [RCV001954759]\|not specified [RCV004044197]	Chr15:90231365 [GRCh38] Chr15:90774597 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.407C>T (p.Thr136Met)	single nucleotide variant	not provided [RCV002028692]\|not specified [RCV004046114]	Chr15:90231153 [GRCh38] Chr15:90774385 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.196G>A (p.Ala66Thr)	single nucleotide variant	not provided [RCV002011059]\|not specified [RCV004046049]	Chr15:90231507 [GRCh38] Chr15:90774739 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.546C>A (p.Asp182Glu)	single nucleotide variant	not provided [RCV002018553]	Chr15:90230942 [GRCh38] Chr15:90774174 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.427C>T (p.Arg143Trp)	single nucleotide variant	not provided [RCV001961107]\|not specified [RCV004897716]	Chr15:90231133 [GRCh38] Chr15:90774365 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-116G>A	single nucleotide variant	not provided [RCV001924832]	Chr15:90232443 [GRCh38] Chr15:90775675 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.308C>T (p.Thr103Met)	single nucleotide variant	not provided [RCV001996790]	Chr15:90231395 [GRCh38] Chr15:90774627 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-39G>A	single nucleotide variant	not provided [RCV002050562]	Chr15:90232366 [GRCh38] Chr15:90775598 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.149G>A (p.Arg50Gln)	single nucleotide variant	not provided [RCV001920394]	Chr15:90232265 [GRCh38] Chr15:90775497 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.428G>A (p.Arg143Gln)	single nucleotide variant	not provided [RCV002030098]	Chr15:90231132 [GRCh38] Chr15:90774364 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.418G>A (p.Glu140Lys)	single nucleotide variant	not provided [RCV001995138]\|not specified [RCV004044706]	Chr15:90231142 [GRCh38] Chr15:90774374 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.463A>G (p.Asn155Asp)	single nucleotide variant	not provided [RCV001900275]\|not specified [RCV004040582]	Chr15:90231097 [GRCh38] Chr15:90774329 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.128G>A (p.Arg43Gln)	single nucleotide variant	not provided [RCV002031163]	Chr15:90232286 [GRCh38] Chr15:90775518 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.350_351del (p.Asp116_Phe117insTer)	deletion	not provided [RCV001956168]	Chr15:90231209..90231210 [GRCh38] Chr15:90774441..90774442 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.87-44A>C	single nucleotide variant	not provided [RCV002075502]	Chr15:90232371 [GRCh38] Chr15:90775603 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.148C>T (p.Arg50Trp)	single nucleotide variant	not provided [RCV002168870]	Chr15:90232266 [GRCh38] Chr15:90775498 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-126C>G	single nucleotide variant	not provided [RCV002186940]	Chr15:90232453 [GRCh38] Chr15:90775685 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.357T>C (p.Asp119=)	single nucleotide variant	not provided [RCV002108978]	Chr15:90231203 [GRCh38] Chr15:90774435 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.347-18C>T	single nucleotide variant	not provided [RCV002191052]	Chr15:90231231 [GRCh38] Chr15:90774463 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-111C>T	single nucleotide variant	not provided [RCV002075101]	Chr15:90232438 [GRCh38] Chr15:90775670 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.196-14G>A	single nucleotide variant	not provided [RCV002116572]	Chr15:90231521 [GRCh38] Chr15:90774753 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.195+14C>T	single nucleotide variant	not provided [RCV002172718]	Chr15:90232205 [GRCh38] Chr15:90775437 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-24C>T	single nucleotide variant	not provided [RCV002213258]	Chr15:90232351 [GRCh38] Chr15:90775583 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.465+19C>T	single nucleotide variant	not provided [RCV002134282]	Chr15:90231076 [GRCh38] Chr15:90774308 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.81C>T (p.Ile27=)	single nucleotide variant	not provided [RCV002135087]	Chr15:90233674 [GRCh38] Chr15:90776906 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.84C>G (p.Leu28=)	single nucleotide variant	not provided [RCV002086078]	Chr15:90233671 [GRCh38] Chr15:90776903 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.45G>A (p.Glu15=)	single nucleotide variant	not provided [RCV002150261]	Chr15:90233841 [GRCh38] Chr15:90777073 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.346+8C>T	single nucleotide variant	not provided [RCV002083609]	Chr15:90231349 [GRCh38] Chr15:90774581 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.554+14C>A	single nucleotide variant	not provided [RCV002141647]	Chr15:90230920 [GRCh38] Chr15:90774152 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.466-11C>G	single nucleotide variant	not provided [RCV002176356]	Chr15:90231033 [GRCh38] Chr15:90774265 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-114G>T	single nucleotide variant	not provided [RCV002142819]	Chr15:90232441 [GRCh38] Chr15:90775673 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.52-7C>T	single nucleotide variant	not provided [RCV002082284]	Chr15:90233710 [GRCh38] Chr15:90776942 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.459C>T (p.Ile153=)	single nucleotide variant	not provided [RCV002159477]	Chr15:90231101 [GRCh38] Chr15:90774333 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.555-17G>A	single nucleotide variant	not provided [RCV002139725]	Chr15:90230522 [GRCh38] Chr15:90773754 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.196-5_196-3del	deletion	not provided [RCV002141554]	Chr15:90231510..90231512 [GRCh38] Chr15:90774742..90774744 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.309G>A (p.Thr103=)	single nucleotide variant	not provided [RCV002120688]	Chr15:90231394 [GRCh38] Chr15:90774626 [GRCh37] Chr15:15q26.1	benign
NC_000015.9:g.(?_89379429)_(91565479_?)dup	duplication	D-2-hydroxyglutaric aciduria 2 [RCV003111027]\|not provided [RCV003111026]	Chr15:89379429..91565479 [GRCh37] Chr15:15q26.1	uncertain significance\|no classifications from unflagged records
NM_001013657.3(GDPGP1):c.593A>C (p.His198Pro)	single nucleotide variant	not specified [RCV004305449]	Chr15:90241501 [GRCh38] Chr15:90784733 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.20G>T (p.Arg7Leu)	single nucleotide variant	not provided [RCV002297460]	Chr15:90233866 [GRCh38] Chr15:90777098 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.140C>T (p.Ala47Val)	single nucleotide variant	not specified [RCV004201905]	Chr15:90241048 [GRCh38] Chr15:90784280 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.356A>G (p.Asp119Gly)	single nucleotide variant	not provided [RCV002296084]	Chr15:90231204 [GRCh38] Chr15:90774436 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.390G>C (p.Arg130=)	single nucleotide variant	not provided [RCV002904395]	Chr15:90231170 [GRCh38] Chr15:90774402 [GRCh37] Chr15:15q26.1	likely benign
NM_001013657.3(GDPGP1):c.1028C>T (p.Thr343Ile)	single nucleotide variant	not specified [RCV004097480]	Chr15:90241936 [GRCh38] Chr15:90785168 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.877C>T (p.Arg293Trp)	single nucleotide variant	not specified [RCV004092573]	Chr15:90241785 [GRCh38] Chr15:90785017 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	copy number gain	not provided [RCV002475797]	Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_006384.4(CIB1):c.39G>T (p.Leu13=)	single nucleotide variant	not provided [RCV003015049]	Chr15:90233847 [GRCh38] Chr15:90777079 [GRCh37] Chr15:15q26.1	likely benign
NM_001013657.3(GDPGP1):c.1072C>T (p.Leu358Phe)	single nucleotide variant	not specified [RCV004152989]	Chr15:90241980 [GRCh38] Chr15:90785212 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.37T>G (p.Leu13Val)	single nucleotide variant	not specified [RCV004112661]	Chr15:90240945 [GRCh38] Chr15:90784177 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.118G>A (p.Gly40Arg)	single nucleotide variant	not specified [RCV004109105]	Chr15:90241026 [GRCh38] Chr15:90784258 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-111C>G	single nucleotide variant	not provided [RCV002617344]	Chr15:90232438 [GRCh38] Chr15:90775670 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.456C>T (p.Leu152=)	single nucleotide variant	not provided [RCV002616907]	Chr15:90231104 [GRCh38] Chr15:90774336 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.135G>A (p.Val45=)	single nucleotide variant	not provided [RCV002663127]	Chr15:90232279 [GRCh38] Chr15:90775511 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.554+17C>T	single nucleotide variant	not provided [RCV002795448]	Chr15:90230917 [GRCh38] Chr15:90774149 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.200A>G (p.Asn67Ser)	single nucleotide variant	not provided [RCV002658914]	Chr15:90231503 [GRCh38] Chr15:90774735 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.-1_1delinsTT (p.Met1Leu)	indel	not provided [RCV002659248]	Chr15:90233885..90233886 [GRCh38] Chr15:90777117..90777118 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.86+12C>T	single nucleotide variant	not provided [RCV003037556]	Chr15:90233657 [GRCh38] Chr15:90776889 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.570C>A (p.Val190=)	single nucleotide variant	not provided [RCV002797400]	Chr15:90230490 [GRCh38] Chr15:90773722 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.459C>G (p.Ile153Met)	single nucleotide variant	not provided [RCV002622470]	Chr15:90231101 [GRCh38] Chr15:90774333 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.286A>C (p.Ser96Arg)	single nucleotide variant	not provided [RCV002796060]	Chr15:90231417 [GRCh38] Chr15:90774649 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-125G>A	single nucleotide variant	not provided [RCV002927010]	Chr15:90232452 [GRCh38] Chr15:90775684 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001013657.3(GDPGP1):c.229C>T (p.Arg77Cys)	single nucleotide variant	not specified [RCV004238730]	Chr15:90241137 [GRCh38] Chr15:90784369 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.316A>C (p.Ile106Leu)	single nucleotide variant	not provided [RCV003008281]	Chr15:90231387 [GRCh38] Chr15:90774619 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.119A>G (p.Gln40Arg)	single nucleotide variant	not provided [RCV002745461]	Chr15:90232295 [GRCh38] Chr15:90775527 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.524G>T (p.Arg175Leu)	single nucleotide variant	not specified [RCV004218438]	Chr15:90241432 [GRCh38] Chr15:90784664 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.141G>A (p.Ser47=)	single nucleotide variant	not provided [RCV002710258]	Chr15:90232273 [GRCh38] Chr15:90775505 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-75G>C	single nucleotide variant	not provided [RCV003083047]	Chr15:90232402 [GRCh38] Chr15:90775634 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.466-3C>T	single nucleotide variant	not provided [RCV002766517]	Chr15:90231025 [GRCh38] Chr15:90774257 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.536G>T (p.Arg179Leu)	single nucleotide variant	not provided [RCV002852800]	Chr15:90230952 [GRCh38] Chr15:90774184 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.269G>A (p.Gly90Asp)	single nucleotide variant	not specified [RCV004206051]	Chr15:90241177 [GRCh38] Chr15:90784409 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.1040T>A (p.Phe347Tyr)	single nucleotide variant	not specified [RCV004094665]	Chr15:90241948 [GRCh38] Chr15:90785180 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.466G>A (p.Val156Met)	single nucleotide variant	not specified [RCV004088490]	Chr15:90241374 [GRCh38] Chr15:90784606 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.195+4C>G	single nucleotide variant	not provided [RCV002581177]	Chr15:90232215 [GRCh38] Chr15:90775447 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.878G>A (p.Arg293Gln)	single nucleotide variant	not specified [RCV004193715]	Chr15:90241786 [GRCh38] Chr15:90785018 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.554+13T>C	single nucleotide variant	not provided [RCV002834279]	Chr15:90230921 [GRCh38] Chr15:90774153 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.466-11C>T	single nucleotide variant	not provided [RCV002807017]	Chr15:90231033 [GRCh38] Chr15:90774265 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.327T>C (p.His109=)	single nucleotide variant	not provided [RCV002988730]	Chr15:90231376 [GRCh38] Chr15:90774608 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-140G>A	single nucleotide variant	not provided [RCV003046771]	Chr15:90232467 [GRCh38] Chr15:90775699 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.452A>G (p.Gln151Arg)	single nucleotide variant	not provided [RCV003027714]	Chr15:90231108 [GRCh38] Chr15:90774340 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.813C>G (p.Ser271Arg)	single nucleotide variant	not specified [RCV004192234]	Chr15:90241721 [GRCh38] Chr15:90784953 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.566T>C (p.Ile189Thr)	single nucleotide variant	not specified [RCV004140143]	Chr15:90230494 [GRCh38] Chr15:90773726 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.165C>T (p.Phe55=)	single nucleotide variant	not provided [RCV002582607]	Chr15:90232249 [GRCh38] Chr15:90775481 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.52-20G>A	single nucleotide variant	not provided [RCV002634511]	Chr15:90233723 [GRCh38] Chr15:90776955 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.466-12_466-11del	microsatellite	not provided [RCV002636030]	Chr15:90231033..90231034 [GRCh38] Chr15:90774265..90774266 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.129G>A (p.Arg43=)	single nucleotide variant	not provided [RCV002584568]	Chr15:90232285 [GRCh38] Chr15:90775517 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.33G>C (p.Glu11Asp)	single nucleotide variant	not provided [RCV002589284]	Chr15:90233853 [GRCh38] Chr15:90777085 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-124G>C	single nucleotide variant	not provided [RCV002589626]	Chr15:90232451 [GRCh38] Chr15:90775683 [GRCh37] Chr15:15q26.1	likely benign
NM_001013657.3(GDPGP1):c.848A>G (p.His283Arg)	single nucleotide variant	not specified [RCV004255032]	Chr15:90241756 [GRCh38] Chr15:90784988 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.1063G>A (p.Ala355Thr)	single nucleotide variant	not specified [RCV004280907]	Chr15:90241971 [GRCh38] Chr15:90785203 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	copy number gain	not provided [RCV003222840]	Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3	pathogenic
NM_006384.4(CIB1):c.314A>G (p.Asp105Gly)	single nucleotide variant	not specified [RCV004265779]	Chr15:90231389 [GRCh38] Chr15:90774621 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.283G>A (p.Val95Met)	single nucleotide variant	not specified [RCV004268203]	Chr15:90241191 [GRCh38] Chr15:90784423 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	copy number gain	not provided [RCV003222839]	Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1	pathogenic
NM_006384.4(CIB1):c.19C>T (p.Arg7Cys)	single nucleotide variant	not specified [RCV004267929]	Chr15:90233867 [GRCh38] Chr15:90777099 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.538C>T (p.Arg180Cys)	single nucleotide variant	not specified [RCV004249312]	Chr15:90241446 [GRCh38] Chr15:90784678 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.859C>T (p.His287Tyr)	single nucleotide variant	not specified [RCV004326127]	Chr15:90241767 [GRCh38] Chr15:90784999 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	copy number gain	See cases [RCV003329502]	Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3	pathogenic
NM_001013657.3(GDPGP1):c.824G>A (p.Arg275Gln)	single nucleotide variant	not specified [RCV004342924]	Chr15:90241732 [GRCh38] Chr15:90784964 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-37T>G	single nucleotide variant	CIB1-related disorder [RCV003419008]	Chr15:90232364 [GRCh38] Chr15:90775596 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.823C>T (p.Arg275Trp)	single nucleotide variant	not specified [RCV004347010]	Chr15:90241731 [GRCh38] Chr15:90784963 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.3(CIB1):c.-150C>T	single nucleotide variant	not specified [RCV003490335]	Chr15:90234035 [GRCh38] Chr15:90777267 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.52-49C>G	single nucleotide variant	not specified [RCV003490357]	Chr15:90233752 [GRCh38] Chr15:90776984 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.52-17C>T	single nucleotide variant	not provided [RCV003677527]	Chr15:90233720 [GRCh38] Chr15:90776952 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.465+14C>G	single nucleotide variant	not provided [RCV003579413]	Chr15:90231081 [GRCh38] Chr15:90774313 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-141C>T	single nucleotide variant	not specified [RCV003489260]	Chr15:90232468 [GRCh38] Chr15:90775700 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.555-45G>A	single nucleotide variant	not specified [RCV003489261]	Chr15:90230550 [GRCh38] Chr15:90773782 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.195+54C>T	single nucleotide variant	not specified [RCV003489262]	Chr15:90232165 [GRCh38] Chr15:90775397 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.554+127G>A	single nucleotide variant	not specified [RCV003488909]	Chr15:90230807 [GRCh38] Chr15:90774039 [GRCh37] Chr15:15q26.1	benign
NM_006384.4(CIB1):c.513dup (p.Glu172Ter)	duplication	not provided [RCV003881764]	Chr15:90230974..90230975 [GRCh38] Chr15:90774206..90774207 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.51+7G>C	single nucleotide variant	not provided [RCV003568828]	Chr15:90233828 [GRCh38] Chr15:90777060 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.86+15G>T	single nucleotide variant	not provided [RCV003829507]	Chr15:90233654 [GRCh38] Chr15:90776886 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.196-5C>T	single nucleotide variant	not provided [RCV003693583]	Chr15:90231512 [GRCh38] Chr15:90774744 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.132C>T (p.Ser44=)	single nucleotide variant	not provided [RCV003715175]	Chr15:90232282 [GRCh38] Chr15:90775514 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.347-17C>G	single nucleotide variant	not provided [RCV003827878]	Chr15:90231230 [GRCh38] Chr15:90774462 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.381C>T (p.Asp127=)	single nucleotide variant	not provided [RCV003882425]	Chr15:90231179 [GRCh38] Chr15:90774411 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.6G>A (p.Gly2=)	single nucleotide variant	not provided [RCV003580895]	Chr15:90233880 [GRCh38] Chr15:90777112 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.347-11C>A	single nucleotide variant	not provided [RCV003673231]	Chr15:90231224 [GRCh38] Chr15:90774456 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.96G>A (p.Arg32=)	single nucleotide variant	not provided [RCV003703753]	Chr15:90232318 [GRCh38] Chr15:90775550 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.466-13C>G	single nucleotide variant	not provided [RCV003839855]	Chr15:90231035 [GRCh38] Chr15:90774267 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.372C>T (p.Asn124=)	single nucleotide variant	not provided [RCV003548439]	Chr15:90231188 [GRCh38] Chr15:90774420 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.97C>A (p.Arg33=)	single nucleotide variant	not provided [RCV003685875]	Chr15:90232317 [GRCh38] Chr15:90775549 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.242dup (p.Ala82fs)	duplication	not provided [RCV003551899]	Chr15:90231460..90231461 [GRCh38] Chr15:90774692..90774693 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.347-6C>T	single nucleotide variant	not provided [RCV003718998]	Chr15:90231219 [GRCh38] Chr15:90774451 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.237A>G (p.Thr79=)	single nucleotide variant	not provided [RCV003685059]	Chr15:90231466 [GRCh38] Chr15:90774698 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-137G>A	single nucleotide variant	not provided [RCV003685690]	Chr15:90232464 [GRCh38] Chr15:90775696 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.8del (p.Gly3fs)	deletion	not provided [RCV003871002]	Chr15:90233878 [GRCh38] Chr15:90777110 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.525C>T (p.His175=)	single nucleotide variant	not provided [RCV003870355]	Chr15:90230963 [GRCh38] Chr15:90774195 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-69A>G	single nucleotide variant	not provided [RCV003734789]	Chr15:90232396 [GRCh38] Chr15:90775628 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.438G>A (p.Ala146=)	single nucleotide variant	not provided [RCV003819946]	Chr15:90231122 [GRCh38] Chr15:90774354 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.195+15C>T	single nucleotide variant	not provided [RCV003823496]	Chr15:90232204 [GRCh38] Chr15:90775436 [GRCh37] Chr15:15q26.1	likely benign
NM_001033088.3(NGRN):c.8T>G (p.Val3Gly)	single nucleotide variant	not specified [RCV004487721]	Chr15:90265720 [GRCh38] Chr15:90808952 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.193A>G (p.Lys65Glu)	single nucleotide variant	not specified [RCV004441765]	Chr15:90232221 [GRCh38] Chr15:90775453 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.346+8C>A	single nucleotide variant	CIB1-related disorder [RCV003902190]\|not provided [RCV005101609]	Chr15:90231349 [GRCh38] Chr15:90774581 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.87-36C>T	single nucleotide variant	CIB1-related disorder [RCV003933967]	Chr15:90232363 [GRCh38] Chr15:90775595 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.465+1G>A	single nucleotide variant	Epidermodysplasia verruciformis, susceptibility to, 3 [RCV003990538]	Chr15:90231094 [GRCh38] Chr15:90774326 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001013657.3(GDPGP1):c.53A>G (p.Asn18Ser)	single nucleotide variant	not specified [RCV004387673]	Chr15:90240961 [GRCh38] Chr15:90784193 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.1114G>A (p.Val372Ile)	single nucleotide variant	not specified [RCV004387664]	Chr15:90242022 [GRCh38] Chr15:90785254 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.460C>A (p.Leu154Met)	single nucleotide variant	not specified [RCV004387671]	Chr15:90241368 [GRCh38] Chr15:90784600 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.361C>T (p.Pro121Ser)	single nucleotide variant	not specified [RCV004387669]	Chr15:90241269 [GRCh38] Chr15:90784501 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.8T>G (p.Leu3Arg)	single nucleotide variant	not specified [RCV004387675]	Chr15:90240916 [GRCh38] Chr15:90784148 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.304C>T (p.Arg102Cys)	single nucleotide variant	not specified [RCV004387665]	Chr15:90241212 [GRCh38] Chr15:90784444 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.451G>C (p.Glu151Gln)	single nucleotide variant	not specified [RCV004387670]	Chr15:90241359 [GRCh38] Chr15:90784591 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.305G>C (p.Arg102Pro)	single nucleotide variant	not specified [RCV004387666]	Chr15:90241213 [GRCh38] Chr15:90784445 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.356T>C (p.Phe119Ser)	single nucleotide variant	not specified [RCV004387667]	Chr15:90241264 [GRCh38] Chr15:90784496 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.523C>A (p.Arg175Ser)	single nucleotide variant	not specified [RCV004387672]	Chr15:90241431 [GRCh38] Chr15:90784663 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.734A>C (p.His245Pro)	single nucleotide variant	not specified [RCV004387674]	Chr15:90241642 [GRCh38] Chr15:90784874 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.9:g.(?_89379429)_(91312836_?)del	deletion	Bloom syndrome [RCV004582913]\|D-2-hydroxyglutaric aciduria 2 [RCV004582914]	Chr15:89379429..91312836 [GRCh37] Chr15:15q26.1	pathogenic\|uncertain significance
NM_006384.4(CIB1):c.465+1del	deletion	Susceptibility to severe COVID-19 [RCV004598583]	Chr15:90231094 [GRCh38] Chr15:90774326 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_006384.4(CIB1):c.461del (p.Asp154fs)	deletion	Susceptibility to severe COVID-19 [RCV004598577]	Chr15:90231099 [GRCh38] Chr15:90774331 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001013657.3(GDPGP1):c.718C>T (p.Pro240Ser)	single nucleotide variant	not specified [RCV004626878]	Chr15:90241626 [GRCh38] Chr15:90784858 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.986A>G (p.Asn329Ser)	single nucleotide variant	not specified [RCV004626879]	Chr15:90241894 [GRCh38] Chr15:90785126 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.680G>C (p.Arg227Thr)	single nucleotide variant	not specified [RCV004626881]	Chr15:90241588 [GRCh38] Chr15:90784820 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.523C>G (p.Arg175Gly)	single nucleotide variant	not specified [RCV004626882]	Chr15:90241431 [GRCh38] Chr15:90784663 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.512C>G (p.Pro171Arg)	single nucleotide variant	not specified [RCV004916742]	Chr15:90241420 [GRCh38] Chr15:90784652 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.323C>T (p.Pro108Leu)	single nucleotide variant	not specified [RCV004916741]	Chr15:90241231 [GRCh38] Chr15:90784463 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.776C>T (p.Thr259Ile)	single nucleotide variant	not specified [RCV004925301]	Chr15:90241684 [GRCh38] Chr15:90784916 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.413_414del (p.Glu138fs)	microsatellite	not provided [RCV005173532]	Chr15:90231146..90231147 [GRCh38] Chr15:90774378..90774379 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.9C>T (p.Gly3=)	single nucleotide variant	not provided [RCV005064656]	Chr15:90233877 [GRCh38] Chr15:90777109 [GRCh37] Chr15:15q26.1	likely benign
NM_001013657.3(GDPGP1):c.973G>A (p.Gly325Ser)	single nucleotide variant	not specified [RCV004925298]	Chr15:90241881 [GRCh38] Chr15:90785113 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001013657.3(GDPGP1):c.242G>T (p.Arg81Leu)	single nucleotide variant	not specified [RCV004925299]	Chr15:90241150 [GRCh38] Chr15:90784382 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-3C>T	single nucleotide variant	not provided [RCV005172876]	Chr15:90232330 [GRCh38] Chr15:90775562 [GRCh37] Chr15:15q26.1	likely benign
NM_001013657.3(GDPGP1):c.241C>G (p.Arg81Gly)	single nucleotide variant	not specified [RCV004925297]	Chr15:90241149 [GRCh38] Chr15:90784381 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.555-18C>A	single nucleotide variant	not provided [RCV005158961]	Chr15:90230523 [GRCh38] Chr15:90773755 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.347-11C>G	single nucleotide variant	not provided [RCV005117493]	Chr15:90231224 [GRCh38] Chr15:90774456 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.132del (p.Ser44fs)	deletion	not provided [RCV005168419]	Chr15:90232282 [GRCh38] Chr15:90775514 [GRCh37] Chr15:15q26.1	pathogenic
NM_006384.4(CIB1):c.465+8G>A	single nucleotide variant	not provided [RCV005162496]	Chr15:90231087 [GRCh38] Chr15:90774319 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.412G>A (p.Glu138Lys)	single nucleotide variant	not provided [RCV005160399]	Chr15:90231148 [GRCh38] Chr15:90774380 [GRCh37] Chr15:15q26.1	uncertain significance
NM_006384.4(CIB1):c.87-121G>T	single nucleotide variant	not provided [RCV005164208]	Chr15:90232448 [GRCh38] Chr15:90775680 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_006384.4(CIB1):c.466-10C>T	single nucleotide variant	not provided [RCV005156970]	Chr15:90231032 [GRCh38] Chr15:90774264 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.360C>T (p.Asp120=)	single nucleotide variant	not provided [RCV005202680]	Chr15:90231200 [GRCh38] Chr15:90774432 [GRCh37] Chr15:15q26.1	likely benign
NM_006384.4(CIB1):c.241C>T (p.Pro81Ser)	single nucleotide variant	not specified [RCV004441766]	Chr15:90231462 [GRCh38] Chr15:90774694 [GRCh37] Chr15:15q26.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	276
Count of miRNA genes:	239
Interacting mature miRNAs:	258
Transcripts:	ENST00000328649
Prediction methods:	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
597164793	GWAS1260867_H	polyp of colon QTL GWAS1260867 (human)		3e-09	polyp of colon		15	90253778	90253779	Human

CIB1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	90,774,406 - 90,774,617	UniSTS	GRCh37
Celera	15	67,178,785 - 67,178,996	UniSTS
HuRef	15	66,886,395 - 66,886,606	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2252	4971	1726	2351	5	624	1950	465	2269	7300	6467	52	3733	1	851	1743	1616	175	1


RefSeq Transcripts	NM_001277764	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_102427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_102428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006720375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054377210	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA769426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB021866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB451276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB451406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG231771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG759961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI520476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD622547	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY070030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JQ246073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U82226	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U83236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U85611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000328649 ⟹ ENSP00000333873

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,229,975 - 90,233,941 (-)	Ensembl

Ensembl Acc Id:

ENST00000612800 ⟹ ENSP00000479860

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,230,246 - 90,234,047 (-)	Ensembl

Ensembl Acc Id:

ENST00000650306 ⟹ ENSP00000497451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,230,250 - 90,233,960 (-)	Ensembl

Ensembl Acc Id:

ENST00000695870

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,230,006 - 90,233,561 (-)	Ensembl

Ensembl Acc Id:

ENST00000695871

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,230,246 - 90,231,975 (-)	Ensembl

Ensembl Acc Id:

ENST00000695872

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,230,250 - 90,233,917 (-)	Ensembl

Ensembl Acc Id:

ENST00000695873

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,230,957 - 90,233,922 (-)	Ensembl

Ensembl Acc Id:

ENST00000695874

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,231,190 - 90,234,043 (-)	Ensembl

Ensembl Acc Id:

ENST00000695875

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,231,502 - 90,233,709 (-)	Ensembl

Ensembl Acc Id:

ENST00000695876

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,231,959 - 90,233,876 (-)	Ensembl

Ensembl Acc Id:

ENST00000695877

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	90,233,083 - 90,233,941 (-)	Ensembl

RefSeq Acc Id:

NM_001277764 ⟹ NP_001264693

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,229,975 - 90,233,941 (-)	NCBI
GRCh37	15	90,773,477 - 90,808,991 (-)	NCBI
HuRef	15	66,885,466 - 66,920,950 (-)	NCBI
CHM1_1	15	90,615,325 - 90,619,098 (-)	NCBI
T2T-CHM13v2.0	15	87,985,982 - 87,989,948 (-)	NCBI

Sequence:

show sequence

GAGAAAGTTGTCTGCGTCTCGAGGCGAGTTGGCGGAGCTGTGCGCGCGGCGGGGCGATGGGGGGCTCGGGCAGTCGCCTGTCCAAGGAGCTGCTGGCCGAGTACCAGGACTTGACGTTCCTGACGAAG
CAGGAGATCCTCCTTTCTGTGTACGTGGTTTTAGCTCCTCACCTGGTTGACAATGAGCAGCAGGCAAGGAGTGGGAATGAACACACAGGGAGACCGATCGCTGAGAACACCGACAGTTCCCCTCTCTC
TACCAGAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCGTGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAACCCCTTCA
AGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATTATGCCTTC
CGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCATCGACAA
CATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGCCCCAGCGTG
TGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCAGGGG
CGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTATGTGTGACATGAGATACACTGGTATGAGGAAGG
ACTGGACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATATCGAGCAGAGGCCAGCGGGAAGTCAAGCCGCACCCACGCTGGCTGTCCCCGTGGGAGGGTGTGAGGATGAAGGGGCA
GCAGGAGGTGTGGGACTCGCCTGTATCCTGATTGGGGTGGTGGTTAGATGAGTCTCTGCATGCATCAAAATGTAAAGAACCGTACATCAGTAAAGTCTATTTTACTGCA

hide sequence

RefSeq Acc Id:

NM_006384 ⟹ NP_006375

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,229,975 - 90,233,941 (-)	NCBI
GRCh37	15	90,773,477 - 90,808,991 (-)	NCBI
Build 36	15	88,574,481 - 88,578,168 (-)	NCBI Archive
HuRef	15	66,885,466 - 66,920,950 (-)	NCBI
CHM1_1	15	90,615,325 - 90,619,098 (-)	NCBI
T2T-CHM13v2.0	15	87,985,982 - 87,989,948 (-)	NCBI

Sequence:

show sequence

GAGAAAGTTGTCTGCGTCTCGAGGCGAGTTGGCGGAGCTGTGCGCGCGGCGGGGCGATGGGGGGCTCGGGCAGTCGCCTGTCCAAGGAGCTGCTGGCCGAGTACCAGGACTTGACGTTCCTGACGAAG
CAGGAGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCGTGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAA
CCCCTTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATT
ATGCCTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTC
ATCGACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGCC
CCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCG
GGCAGGGGCGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTATGTGTGACATGAGATACACTGGTAT
GAGGAAGGACTGGACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATATCGAGCAGAGGCCAGCGGGAAGTCAAGCCGCACCCACGCTGGCTGTCCCCGTGGGAGGGTGTGAGGATG
AAGGGGCAGCAGGAGGTGTGGGACTCGCCTGTATCCTGATTGGGGTGGTGGTTAGATGAGTCTCTGCATGCATCAAAATGTAAAGAACCGTACATCAGTAAAGTCTATTTTACTGCA

hide sequence

RefSeq Acc Id:

NR_102427

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,230,245 - 90,234,155 (-)	NCBI
GRCh37	15	90,773,477 - 90,808,991 (-)	NCBI
HuRef	15	66,885,466 - 66,920,950 (-)	NCBI
CHM1_1	15	90,615,325 - 90,619,206 (-)	NCBI
T2T-CHM13v2.0	15	87,986,252 - 87,990,162 (-)	NCBI

Sequence:

show sequence

GCGGGGCCGTGAGTCCCGGGCTCCGCCCCGGAGCGTCGGGCCCCTCCCCGGGCCCCGCCTCCAGCTCGCCTAGGACCGCTTGGAGCCGGCAGCTCGCCTGCCAAACCCGGCTGGGAACGCCTGGCAGC
TTTTAGGAGGGGGCGGGCCCGGGGGTGGTGGCCCCAGGAGCGGTTGCCGCGGGGACCGGGCAGTGACGCGGCCCAAGGGCGGAAGTGAGAAAGTTGTCTGCGTCTCGAGGACTTGACGTTCCTGACGA
AGCAGGAGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCGTGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCC
AACCCCTTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCA
TTATGCCTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGC
TCATCGACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAG
CCCCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCC
CGGGCAGGGGCGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_102428

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,230,245 - 90,265,759 (-)	NCBI
GRCh37	15	90,773,477 - 90,808,991 (-)	NCBI
HuRef	15	66,885,466 - 66,920,950 (-)	NCBI
CHM1_1	15	90,615,325 - 90,650,739 (-)	NCBI
T2T-CHM13v2.0	15	87,986,252 - 88,021,749 (-)	NCBI

Sequence:

show sequence

GCGGCGCAAACGCGCCCGCCCAGCAAGAGACTCAGGGTAACCGCCATGTCGACGCAAACCAGCCTTCAGCAGTCGGCTACGAAACAGCAGCGGAAGTAGCCGGGACTTGACGTTCCTGACGAAGCAGG
AGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCGTGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAACCCC
TTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATTATGC
CTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCATCG
ACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGCCCCAG
CGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCA
GGGGCGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_006720375 ⟹ XP_006720438

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,230,659 - 90,233,941 (-)	NCBI

Sequence:

show sequence

GAAAGTTGTCTGCGTCTCGAGGCGAGTTGGCGGAGCTGTGCGCGCGGCGGGGCGATGGGGGGCTCGGGCAGTCGCCTGTCCAAGGAGCTGCTGGCCGAGTACCAGGACTTGACGTTCCTGACGAAGCA
GGAGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCGTGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAACC
CCTTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATTAT
GCCTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCAT
CGACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGGTATGACAGTGGTCCCCCTTCATTCTGGGTAC
CTGCAGGTTCCGACCTGCTGCCTCTGGGCCTAGGGCATGGCTACAGGAGGTGGTGCCAGGGTGAGAGAAAGCCCCAGTCCCCACACACAGGGCCGGCTAAGCTGGCAGTCTCGCCCCGGGCAGGGGCA
GCCCTCCTTGTCAAGACCTCTCCCCTTCCCACTGCCATTGTCATTGCTCTGTGTTTGTACTCATTAGTAATAAAGGTTTAGAAGCTCTGACCCAGTGTGTGGGTCCAGAAAGCTCCCTCTGGA

hide sequence

RefSeq Acc Id:

XM_054377210 ⟹ XP_054233185

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	15	87,986,658 - 87,989,948 (-)	NCBI


Protein RefSeqs	NP_001264693	(Get FASTA)	NCBI Sequence Viewer
	NP_006375	(Get FASTA)	NCBI Sequence Viewer
	XP_006720438	(Get FASTA)	NCBI Sequence Viewer
	XP_054233185	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB39758	(Get FASTA)	NCBI Sequence Viewer
	AAB53387	(Get FASTA)	NCBI Sequence Viewer
	AAC51106	(Get FASTA)	NCBI Sequence Viewer
	AAH00846	(Get FASTA)	NCBI Sequence Viewer
	AEE61146	(Get FASTA)	NCBI Sequence Viewer
	AEZ06077	(Get FASTA)	NCBI Sequence Viewer
	BAA36281	(Get FASTA)	NCBI Sequence Viewer
	BAG70090	(Get FASTA)	NCBI Sequence Viewer
	BAG70220	(Get FASTA)	NCBI Sequence Viewer
	CAG33236	(Get FASTA)	NCBI Sequence Viewer
	EAX02087	(Get FASTA)	NCBI Sequence Viewer
	EAX02088	(Get FASTA)	NCBI Sequence Viewer
	EAX02089	(Get FASTA)	NCBI Sequence Viewer
	EAX02090	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000333873
	ENSP00000333873.6
	ENSP00000479860
	ENSP00000479860.1
GenBank Protein	Q99828	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006375 ⟸ NM_006384
- Peptide Label:	isoform b
- UniProtKB:	Q96J54 (UniProtKB/Swiss-Prot), Q6IB49 (UniProtKB/Swiss-Prot), O00735 (UniProtKB/Swiss-Prot), O00693 (UniProtKB/Swiss-Prot), H6WJF3 (UniProtKB/Swiss-Prot), B5BU40 (UniProtKB/Swiss-Prot), Q99971 (UniProtKB/Swiss-Prot), Q99828 (UniProtKB/Swiss-Prot), A0A140VK09 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGGSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDL SRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDFASSFKIVL hide sequence

RefSeq Acc Id:	NP_001264693 ⟸ NM_001277764
- Peptide Label:	isoform a
- UniProtKB:	Q99828 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGGSGSRLSKELLAEYQDLTFLTKQEILLSVYVVLAPHLVDNEQQARSGNEHTGRPIAENTDSS PLSTRAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQL IDNILEESDIDRDGTINLSEFQHVISRSPDFASSFKIVL hide sequence

RefSeq Acc Id:

XP_006720438 ⟸ XM_006720375

- Peptide Label:

isoform X1

- Sequence:

show sequence

MGGSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPEL
KANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDFARYDSGPPS
FWVPAGSDLLPLGLGHGYRRWCQGERKPQSPHTGPAKLAVSPRAGAALLVKTSPLPTAIVIALCLYSLVIKV

hide sequence

Ensembl Acc Id:

ENSP00000497451 ⟸ ENST00000650306

Ensembl Acc Id:

ENSP00000479860 ⟸ ENST00000612800

Protein Domains

EF-hand

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q99828-F1-model_v2	AlphaFold	Q99828	1-191	view protein structure

RGD ID:

6816064

Promoter ID:

HG_SPT:22276

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

AA034913, AA045776, AA076120, AA099417, AA133864, AA143712, AA157565, AA158016, AA158408, AA158799, AA159044, AA159144, AA159342, AA161195, AA181950, AA281481, AA399699, AA457151, AA487575, AA505524, AA552432, AA613294, AA614339, AA708941, AA709330, AA737938, AA740252, AA761054, AA769426, AA826393, AA838336, AA844407, AA860413, AA863262, AA906607, AA928740, AA931507, AA938009, AA974921, AA987507, AI041987, AI075440, AI088136, AI088542, AI094593, AI095459, AI096640, AI131167, AI151244, AI159816, AI160586, AI184154, AI190919, AI191131, AI200701, AI200875, AI201004, AI204383, AI223009, AI285109, AI299105, AI313456, AI333383, AI339321, AI344389, AI432222, AI432700, AI439512, AI571039, AI673661, AI708211, AI811617, AI826432, AI830576, AI857336, AI858086, AI870625, AI884840, AI906683, AI913064, AI934804, AI950834, AI952768, AI952769, AI963735, AI991226, AL542816, AW006454, AW014715, AW026596, AW050635, AW050816, AW084049, AW190987, AW207189, AW263600, AW263995, AW271234, AW276024, AW328612, AW375796, AW473624, AW517974, AW519074, AW579489, AW579492, AW601339, AW662736, BE172514, BE173867, BE617772, BE620680, BE621923, BE858074, BE858151, BE905932, BE965092, BF438593, BF448994, BF476700, BF939244, BG014830, BG055065, BG057832, BG231771, BG745829, BI084807, BI085773, BI520683, BM310299, BM662615, BM969129, BM979035, BM983981, BM985016, BM990740, BM995908, BM999206, BM999255, BQ447547, BQ576313, BU069776, BU580472, BU617272, BU628418, BU676416, BU683847, BU687267, BU726331, BU727170, BU731593, BU734210, BU949765, BX434351, BX487401, BX953190, CA306279, CA422307, CA424369, CA427895, CA432364, CA442068, CA443194, CA443331, CB067483, CD368634, CD622545, CD622546, CD742765, EC557036, FN063389, H22663, H52850, H64398, N23740, N30277, N80571, T60855, T64137, W15368, W69352

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	88,575,331 - 88,575,831 (+)	MPROMDB

RGD ID:

6792176

Promoter ID:

HG_KWN:22325

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001013657, OTTHUMT00000313419

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	88,577,586 - 88,578,942 (+)	MPROMDB

RGD ID:

7230509

Promoter ID:

EPDNEW_H21001

Type:

initiation region

Name:

CIB1_1

Description:

calcium and integrin binding 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21002

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,233,938 - 90,233,998	EPDNEW

RGD ID:

7230511

Promoter ID:

EPDNEW_H21002

Type:

initiation region

Name:

CIB1_2

Description:

calcium and integrin binding 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21001

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	90,234,169 - 90,234,229	EPDNEW

Database	Acc Id	Source(s)
COSMIC	CIB1	COSMIC
Ensembl Genes	ENSG00000185043	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000328649	ENTREZGENE
	ENST00000328649.11	UniProtKB/Swiss-Prot
	ENST00000612800	ENTREZGENE
	ENST00000612800.1	UniProtKB/Swiss-Prot
Gene3D-CATH	EF-hand	UniProtKB/Swiss-Prot
GTEx	ENSG00000185043	GTEx
HGNC ID	HGNC:16920	ENTREZGENE
Human Proteome Map	CIB1	Human Proteome Map
InterPro	CIBP	UniProtKB/Swiss-Prot
	EF-hand-dom_pair	UniProtKB/Swiss-Prot
	EF_Hand_1_Ca_BS	UniProtKB/Swiss-Prot
	EF_hand_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:10519	UniProtKB/Swiss-Prot
NCBI Gene	10519	ENTREZGENE
OMIM	602293	OMIM
PANTHER	CALCIUM AND INTEGRIN BINDING FAMILY MEMBER 2	UniProtKB/Swiss-Prot
	CALCIUM AND INTEGRIN-BINDING PROTEIN 1	UniProtKB/Swiss-Prot
Pfam	EF-hand_7	UniProtKB/Swiss-Prot
PharmGKB	PA38423	PharmGKB
PROSITE	EF_HAND_1	UniProtKB/Swiss-Prot
	EF_HAND_2	UniProtKB/Swiss-Prot
SMART	EFh	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47473	UniProtKB/Swiss-Prot
UniProt	A0A140VK09	ENTREZGENE, UniProtKB/TrEMBL
	A0A3B3ISY8_HUMAN	UniProtKB/TrEMBL
	B5BU40	ENTREZGENE
	CIB1_HUMAN	UniProtKB/Swiss-Prot
	H6WJF3	ENTREZGENE
	O00693	ENTREZGENE
	O00735	ENTREZGENE
	Q6IB49	ENTREZGENE
	Q96J54	ENTREZGENE
	Q99828	ENTREZGENE
	Q99971	ENTREZGENE
UniProt Secondary	B5BU40	UniProtKB/Swiss-Prot
	H6WJF3	UniProtKB/Swiss-Prot
	O00693	UniProtKB/Swiss-Prot
	O00735	UniProtKB/Swiss-Prot
	Q6IB49	UniProtKB/Swiss-Prot
	Q96J54	UniProtKB/Swiss-Prot
	Q99971	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-01	CIB1	calcium and integrin binding 1		calcium and integrin binding 1 (calmyrin)	Symbol and/or name change	5135510	APPROVED

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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