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Gene: PUSL1 (pseudouridine synthase like 1) Homo sapiens

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Symbol:

PUSL1

Name:

pseudouridine synthase like 1

RGD ID:

1353807

HGNC Page

HGNC:26914

Description:

Predicted to enable pseudouridine synthase activity. Predicted to be involved in tRNA pseudouridine synthesis. Located in mitochondrion.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ90811; pseudouridylate synthase like 1; pseudouridylate synthase-like 1; tRNA pseudouridine synthase-like 1; tRNA pseudouridylate synthase-like 1; tRNA-uridine isomerase-like 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Pusl1 (pseudouridylate synthase-like 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Pusl1 (pseudouridine synthase like 1)	HGNC	Ensembl, HomoloGene, NCBI, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Pusl1 (pseudouridine synthase like 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PUSL1 (pseudouridine synthase like 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	PUSL1 (pseudouridine synthase like 1)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pusl1 (pseudouridine synthase like 1)	NCBI	Ortholog
Sus scrofa (pig):	PUSL1 (pseudouridine synthase like 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PUSL1 (pseudouridine synthase like 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Pusl1 (pseudouridine synthase like 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Pusl1 (pseudouridine synthase like 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Pusl1 (pseudouridylate synthase-like 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	pusl1 (pseudouridine synthase like 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	Y73B6BL.29	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG34140	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	pusl1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	pusl1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	1	1,308,597 - 1,311,677 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	1,308,597 - 1,311,677 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	1,243,977 - 1,247,057 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	1,233,857 - 1,236,920 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	1,283,916 - 1,286,979	NCBI
Celera	1	1,334,084 - 1,337,147 (-)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	515,603 - 518,659 (+)	NCBI		HuRef
CHM1_1	1	1,231,025 - 1,234,088 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	740,148 - 743,228 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PUSL1	Human	chromosome 1p36 deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	ClinVar	PMID:25741868
PUSL1	Human	congenital myasthenic syndrome 8		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital myasthenic syndrome 8	ClinVar	PMID:24951643 and PMID:28492532
PUSL1	Human	dilated cardiomyopathy 1LL		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Left ventricular noncompaction 8	ClinVar	PMID:28492532
PUSL1	Human	Ehlers-Danlos syndrome spondylodysplastic type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...	ClinVar	PMID:19492091 and PMID:28492532
PUSL1	Human	Ehlers-Danlos syndrome spondylodysplastic type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...	ClinVar	PMID:10862081 more ...
PUSL1	Human	Ehlers-Danlos syndrome spondylodysplastic type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...	ClinVar	PMID:28492532
PUSL1	Human	Goldberg-Shprintzen syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:28492532
PUSL1	Human	Goldberg-Shprintzen syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:23892090 more ...
PUSL1	Human	immunodeficiency 16		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency	ClinVar	PMID:10862081 more ...
PUSL1	Human	immunodeficiency 38		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	ClinVar	PMID:10862081 more ...
PUSL1	Human	Joubert syndrome 25		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Joubert syndrome 25	ClinVar	PMID:10862081 more ...
PUSL1	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
PUSL1	Human	Peroxisome Biogenesis Disorder, Complementation Group 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7	ClinVar	PMID:10862081 more ...
PUSL1	Human	Shprintzen-Goldberg Craniosynostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:28492532
PUSL1	Human	Shprintzen-Goldberg Craniosynostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:23892090 more ...

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PUSL1	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Pusl1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of PUSL1 mRNA	CTD	PMID:36331819
PUSL1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Pusl1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PUSL1 mRNA	CTD	PMID:26290441
PUSL1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PUSL1 mRNA	CTD	PMID:33387578
PUSL1	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PUSL1 mRNA	CTD	PMID:30851411
PUSL1	Human	acrylamide	increases expression	ISO	Pusl1 (Mus musculus)	6480464	Acrylamide results in increased expression of PUSL1 mRNA	CTD	PMID:30807115
PUSL1	Human	amphetamine	decreases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	Amphetamine results in decreased expression of PUSL1 mRNA	CTD	PMID:30779732
PUSL1	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of PUSL1 mRNA	CTD	PMID:33212167
PUSL1	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	Pusl1 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PUSL1 promoter	CTD	PMID:23359474
PUSL1	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	Pusl1 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of PUSL1 mRNA	CTD	PMID:34319233
PUSL1	Human	bisphenol A	multiple interactions	ISO	Pusl1 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PUSL1 promoter	CTD	PMID:23359474
PUSL1	Human	bisphenol A	increases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PUSL1 mRNA	CTD	PMID:25181051
PUSL1	Human	carbon nanotube	increases expression	ISO	Pusl1 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
PUSL1	Human	chlorpyrifos	increases expression	ISO	Pusl1 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of PUSL1 mRNA	CTD	PMID:37019170
PUSL1	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of PUSL1 mRNA	CTD	PMID:19549813
PUSL1	Human	cyclosporin A	decreases methylation	EXP		6480464	Cyclosporine results in decreased methylation of PUSL1 promoter	CTD	PMID:27989131
PUSL1	Human	DDE	increases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in increased expression of PUSL1 mRNA	CTD	PMID:38568856
PUSL1	Human	dibutyl phthalate	multiple interactions	ISO	Pusl1 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PUSL1 promoter	CTD	PMID:23359474
PUSL1	Human	fipronil	increases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	fipronil results in increased expression of PUSL1 mRNA	CTD	PMID:23962444
PUSL1	Human	flutamide	decreases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	Flutamide results in decreased expression of PUSL1 mRNA	CTD	PMID:24793618
PUSL1	Human	FR900359	affects phosphorylation	EXP		6480464	FR900359 affects the phosphorylation of PUSL1 protein	CTD	PMID:37730182
PUSL1	Human	gentamycin	increases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of PUSL1 mRNA	CTD	PMID:33387578
PUSL1	Human	inulin	multiple interactions	ISO	Pusl1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of PUSL1 mRNA	CTD	PMID:36331819
PUSL1	Human	methamphetamine	decreases expression	ISO	Pusl1 (Rattus norvegicus)	6480464	Methamphetamine results in decreased expression of PUSL1 mRNA	CTD	PMID:19564919
PUSL1	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Pusl1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of PUSL1 mRNA and [perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of PUSL1 mRNA	CTD	PMID:36331819
PUSL1	Human	phenobarbital	affects expression	EXP		6480464	Phenobarbital affects the expression of PUSL1 mRNA	CTD	PMID:19159669
PUSL1	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	Pusl1 (Mus musculus)	6480464	Pregnenolone Carbonitrile results in increased expression of PUSL1 mRNA	CTD	PMID:28903501
PUSL1	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of PUSL1 mRNA	CTD	PMID:30851411
PUSL1	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of PUSL1 mRNA	CTD	PMID:29955902
PUSL1	Human	silicon dioxide	increases expression	EXP		6480464	Silicon Dioxide analog results in increased expression of PUSL1 mRNA	CTD	PMID:25895662
PUSL1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of PUSL1 mRNA	CTD	PMID:38568856
PUSL1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PUSL1 mRNA	CTD	PMID:34032870
PUSL1	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of PUSL1 mRNA	CTD	PMID:31533062
PUSL1	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of PUSL1 mRNA	CTD	PMID:38568856
PUSL1	Human	titanium dioxide	decreases methylation	ISO	Pusl1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of PUSL1 gene and titanium dioxide results in decreased methylation of PUSL1 promoter alternative form	CTD	PMID:35295148
PUSL1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PUSL1 gene	CTD	PMID:29154799
PUSL1	Human	valproic acid	affects splicing	ISO	Pusl1 (Rattus norvegicus)	6480464	Valproic Acid affects the splicing of PUSL1 mRNA	CTD	PMID:29427782
PUSL1	Human	vinclozolin	affects expression	ISO	Pusl1 (Rattus norvegicus)	6480464	vinclozolin affects the expression of PUSL1 mRNA	CTD	PMID:23034163

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)
PUSL1	Human	pseudouridine synthesis	involved_in	IEA	InterPro:IPR001406 more ...	150520179		InterPro	GO_REF:0000002
PUSL1	Human	RNA modification	involved_in	IEA	InterPro:IPR001406 more ...	150520179		InterPro	GO_REF:0000002
PUSL1	Human	tRNA processing	involved_in	IEA	UniProtKB-KW:KW-0819	150520179		UniProt	GO_REF:0000043
PUSL1	Human	tRNA pseudouridine synthesis	involved_in	IBA	MGI:1914299 more ...	150520179		GO_Central	GO_REF:0000033

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)
PUSL1	Human	intracellular membrane-bounded organelle	located_in	IDA		150520179		HPA	GO_REF:0000052
PUSL1	Human	mitochondrion	located_in	IDA		150520179	PMID:28082677	FlyBase	PMID:28082677
PUSL1	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366

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)
PUSL1	Human	isomerase activity	enables	IEA	UniProtKB-KW:KW-0413	150520179		UniProt	GO_REF:0000043
PUSL1	Human	pseudouridine synthase activity	enables	IEA	InterPro:IPR001406 more ...	150520179		InterPro	GO_REF:0000002
PUSL1	Human	pseudouridine synthase activity	enables	IBA	MGI:1914299 more ...	150520179		GO_Central	GO_REF:0000033
PUSL1	Human	RNA binding	enables	IEA	InterPro:IPR001406 more ...	150520179		InterPro	GO_REF:0000002
PUSL1	Human	tRNA pseudouridine synthase activity	enables	IEA	RHEA:54572	150520179		RHEA	GO_REF:0000116
PUSL1	Human	tRNA pseudouridine(38-40) synthase activity	enables	IEA	EC:5.4.99.12	150520179		UniProt	GO_REF:0000003
PUSL1	Human	tRNA pseudouridine(38-40) synthase activity	enables	IEA	RHEA:22376	150520179		RHEA	GO_REF:0000116

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PUSL1	Human	Generalized-onset seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalised epilepsy	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

PMID:14702039	PMID:15489334	PMID:16303743	PMID:17207965	PMID:20186120	PMID:21832049	PMID:21873635	PMID:23128233	PMID:24981860	PMID:25609649	PMID:26186194	PMID:27503909
PMID:28082677	PMID:28514442	PMID:28675297	PMID:29509190	PMID:29845934	PMID:30745168	PMID:31527615	PMID:32353859	PMID:32707033	PMID:32877691	PMID:33060197	PMID:33961781
PMID:34159380	PMID:34800366	PMID:35337019	PMID:37827155	PMID:38177924

PUSL1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	1,308,597 - 1,311,677 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	1,308,597 - 1,311,677 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	1,243,977 - 1,247,057 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	1,233,857 - 1,236,920 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	1,283,916 - 1,286,979	NCBI
Celera	1	1,334,084 - 1,337,147 (-)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	515,603 - 518,659 (+)	NCBI		HuRef
CHM1_1	1	1,231,025 - 1,234,088 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	740,148 - 743,228 (+)	NCBI		T2T-CHM13v2.0

Pusl1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	155,973,314 - 155,976,231 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	155,972,336 - 155,976,238 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	155,888,857 - 155,891,858 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	155,887,879 - 155,891,781 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	155,262,966 - 155,265,871 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	154,732,413 - 154,735,569 (-)	NCBI		MGSCv36	mm8
Celera	4	158,159,833 - 158,162,725 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	87.66	NCBI

Pusl1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	171,773,284 - 171,782,893 (-)	NCBI		GRCr8
mRatBN7.2	5	166,497,643 - 166,500,647 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	166,496,755 - 166,500,611 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	169,202,453 - 169,205,457 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	171,023,874 - 171,026,878 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	170,986,406 - 170,989,410 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	173,326,755 - 173,339,934 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	173,336,034 - 173,340,026 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	176,811,652 - 176,815,508 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	172,745,715 - 172,749,571 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	5	164,697,479 - 164,701,335 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Pusl1
(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_004955486	9,491,506 - 9,494,520 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	9,491,613 - 9,494,746 (-)	NCBI	ChiLan1.0	ChiLan1.0

PUSL1
(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	1	226,915,523 - 226,919,100 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	225,612,211 - 225,615,302 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	63,263 - 66,360 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	1,263,656 - 1,266,661 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	1,263,656 - 1,266,661 (+)	Ensembl	panpan1.1		panPan2

PUSL1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	56,482,802 - 56,485,778 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	56,482,363 - 56,485,783 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	56,558,999 - 56,562,109 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	56,684,922 - 56,688,026 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	56,684,952 - 56,687,513 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	56,675,637 - 56,678,746 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	56,567,929 - 56,571,032 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	56,957,933 - 56,961,044 (+)	NCBI		UU_Cfam_GSD_1.0

Pusl1
(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_024405058	27,629,752 - 27,632,651 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	1,833,798 - 1,836,696 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	1,833,298 - 1,836,101 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PUSL1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	63,593,959 - 63,599,019 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	63,593,539 - 63,596,921 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	58,091,967 - 58,094,995 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PUSL1
(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	20	130,139,479 - 130,142,819 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	130,139,480 - 130,142,342 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	34,705,841 - 34,709,175 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pusl1
(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_004624818	8,299,449 - 8,302,320 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	8,299,449 - 8,302,333 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PUSL1
52 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	copy number loss	See cases [RCV000050857]	Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000050752]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	copy number loss	See cases [RCV000052043]	Chr1:844347..2131805 [GRCh38] Chr1:779727..2063244 [GRCh37] Chr1:769590..2053104 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	copy number loss	See cases [RCV000052044]	Chr1:845437..2523513 [GRCh38] Chr1:780817..2454952 [GRCh37] Chr1:770680..2444812 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	copy number loss	See cases [RCV000052064]	Chr1:872305..2047715 [GRCh38] Chr1:807685..1979154 [GRCh37] Chr1:797548..1969014 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	copy number gain	See cases [RCV000052067]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	copy number loss	See cases [RCV000052068]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|See cases [RCV000052069]	Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	copy number loss	See cases [RCV000052070]	Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|See cases [RCV000052016]	Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|See cases [RCV000052041]	Chr1:844347..2014739 [GRCh38] Chr1:779727..1946178 [GRCh37] Chr1:769590..1936038 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
NM_153339.1(PUSL1):c.517C>A (p.Leu173Ile)	single nucleotide variant	Malignant melanoma [RCV000059856]	Chr1:1309724 [GRCh38] Chr1:1245104 [GRCh37] Chr1:1234967 [NCBI36] Chr1:1p36.33	not provided
NM_017871.5(CPSF3L):c.958-2A>T	single nucleotide variant	Malignant melanoma [RCV000064062]	Chr1:1313594 [GRCh38] Chr1:1248974 [GRCh37] Chr1:1238837 [NCBI36] Chr1:1p36.33	not provided
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	copy number loss	See cases [RCV000134145]	Chr1:1013081..1722599 [GRCh38] Chr1:948461..1654038 [GRCh37] Chr1:938324..1643898 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	copy number loss	See cases [RCV000134211]	Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	copy number loss	See cases [RCV000134055]	Chr1:844353..2420916 [GRCh38] Chr1:779733..2352355 [GRCh37] Chr1:769596..2342215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	copy number gain	See cases [RCV000134939]	Chr1:932163..1792271 [GRCh38] Chr1:867543..1723710 [GRCh37] Chr1:857406..1713570 [NCBI36] Chr1:1p36.33	likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	copy number loss	See cases [RCV000137380]	Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	copy number loss	See cases [RCV000137890]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	copy number gain	See cases [RCV000137894]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	copy number loss	See cases [RCV000138883]	Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	copy number loss	See cases [RCV000139876]	Chr1:821713..2554047 [GRCh38] Chr1:757093..2485486 [GRCh37] Chr1:746956..2479281 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	copy number loss	See cases [RCV000141208]	Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	copy number loss	See cases [RCV000141227]	Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	copy number loss	See cases [RCV000140892]	Chr1:914086..2465738 [GRCh38] Chr1:849466..2397177 [GRCh37] Chr1:839329..2387037 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	copy number loss	See cases [RCV000142178]	Chr1:914086..1538895 [GRCh38] Chr1:849466..1474275 [GRCh37] Chr1:839329..1464138 [NCBI36] Chr1:1p36.33	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	copy number loss	See cases [RCV000142754]	Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	copy number loss	See cases [RCV000143224]	Chr1:914086..1613769 [GRCh38] Chr1:849466..1549149 [GRCh37] Chr1:839329..1539012 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000148161]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	copy number loss	See cases [RCV000240189]	Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1226242-1268865)x3	copy number gain	See cases [RCV000447162]	Chr1:1226242..1268865 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1241799-1268865)x3	copy number gain	See cases [RCV000447990]	Chr1:1241799..1268865 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3	copy number gain	See cases [RCV000510511]	Chr1:849466..1663402 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	copy number loss	See cases [RCV000511408]	Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1	copy number loss	See cases [RCV000512029]	Chr1:849466..2330338 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	copy number loss	See cases [RCV000511834]	Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1	copy number loss	See cases [RCV000510858]	Chr1:849466..2554275 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_153339.3(PUSL1):c.446G>A (p.Arg149His)	single nucleotide variant	not specified [RCV004329469]	Chr1:1309576 [GRCh38] Chr1:1244956 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.386C>G (p.Thr129Ser)	single nucleotide variant	not specified [RCV004313348]	Chr1:1309516 [GRCh38] Chr1:1244896 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.272C>G (p.Pro91Arg)	single nucleotide variant	not specified [RCV004289820]	Chr1:1309222 [GRCh38] Chr1:1244602 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.835C>T (p.Leu279Phe)	single nucleotide variant	not specified [RCV004288866]	Chr1:1311044 [GRCh38] Chr1:1246424 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.11:g.(?_1020153)_(1313808_?)del	deletion	Congenital myasthenic syndrome 8 [RCV000651427]	Chr1:1020153..1313808 [GRCh38] Chr1:955533..1249188 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1	copy number loss	not provided [RCV000684531]	Chr1:849466..1314437 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1	copy number loss	not provided [RCV000684532]	Chr1:849466..2240632 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1	copy number loss	not provided [RCV000684535]	Chr1:1129318..2040693 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33(chr1:1221530-1271808)x3	copy number gain	not provided [RCV000736333]	Chr1:1221530..1271808 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1222529-1247820)x3	copy number gain	not provided [RCV000736336]	Chr1:1222529..1247820 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1222596-1248041)x3	copy number gain	not provided [RCV000736337]	Chr1:1222596..1248041 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1223122-1247820)x3	copy number gain	not provided [RCV000736340]	Chr1:1223122..1247820 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1226757-1244646)x4	copy number gain	not provided [RCV000736343]	Chr1:1226757..1244646 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1226757-1246972)x4	copy number gain	not provided [RCV000736344]	Chr1:1226757..1246972 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3	copy number gain	not provided [RCV000736301]	Chr1:82154..1289835 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33(chr1:1221530-1267908)x1	copy number loss	not provided [RCV000736332]	Chr1:1221530..1267908 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1221530-1289863)x3	copy number gain	not provided [RCV000736334]	Chr1:1221530..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1223122-1247469)x3	copy number gain	not provided [RCV000736339]	Chr1:1223122..1247469 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1223385-1289863)x3	copy number gain	not provided [RCV000736341]	Chr1:1223385..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3	copy number gain	not provided [RCV000736302]	Chr1:82154..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1	copy number loss	not provided [RCV000748800]	Chr1:727037..1366830 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1	copy number loss	not provided [RCV000748814]	Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1121794-1346905)x3	copy number gain	not provided [RCV000748819]	Chr1:1121794..1346905 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1130727-1289863)x3	copy number gain	not provided [RCV000748822]	Chr1:1130727..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1138913-1289863)x3	copy number gain	not provided [RCV000748824]	Chr1:1138913..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1219775-1288823)x1	copy number loss	not provided [RCV000748827]	Chr1:1219775..1288823 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1241746-1275410)x1	copy number loss	not provided [RCV000748830]	Chr1:1241746..1275410 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1246013-1267539)x3	copy number gain	not provided [RCV000748831]	Chr1:1246013..1267539 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33(chr1:568708-1283779)	copy number loss	not provided [RCV000767825]	Chr1:568708..1283779 [GRCh37] Chr1:1p36.33	likely pathogenic
NC_000001.10:g.(?_955543)_(2238214_?)del	deletion	Congenital myasthenic syndrome 8 [RCV001033252]	Chr1:955543..2238214 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767776]	Chr1:568708..2567832 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.11:g.(?_1013554)_(1313808_?)del	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824]	Chr1:948934..1249188 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	copy number loss	not provided [RCV001005056]	Chr1:849466..1649932 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del	deletion	Shprintzen-Goldberg syndrome [RCV000816642]	Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	copy number gain	not provided [RCV000846682]	Chr1:727731..2107858 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:1233200-1453416)x1	copy number loss	not provided [RCV000846661]	Chr1:1233200..1453416 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del	deletion	Left ventricular noncompaction 8 [RCV001033604]	Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	copy number loss	not provided [RCV001260111]	Chr1:849466..2033256 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	copy number loss	not provided [RCV001260110]	Chr1:849466..1806659 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	copy number loss	not provided [RCV001260112]	Chr1:849466..1976788 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	copy number loss	not provided [RCV001270634]	Chr1:753462..1717335 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	copy number loss	See cases [RCV002285055]	Chr1:849466..2518608 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NC_000001.10:g.(?_948954)_(1284445_?)dup	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001305754]\|not provided [RCV001308818]	Chr1:948954..1284445 [GRCh37] Chr1:1p36.33	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_153339.3(PUSL1):c.693T>G (p.Tyr231Ter)	single nucleotide variant	not provided [RCV001811711]	Chr1:1310682 [GRCh38] Chr1:1246062 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del	deletion	Left ventricular noncompaction 8 [RCV002004579]	Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NC_000001.10:g.(?_1235211)_(1326995_?)del	deletion	not provided [RCV002023109]	Chr1:1235211..1326995 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	copy number loss	not provided [RCV001829223]	Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
NC_000001.10:g.(?_955553)_(3350375_?)del	deletion	Left ventricular noncompaction 8 [RCV001955735]	Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NC_000001.10:g.(?_861322)_(2161194_?)del	deletion	Idiopathic generalized epilepsy [RCV002050272]	Chr1:861322..2161194 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV002247723]	Chr1:817861..1836133 [GRCh38] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	copy number gain	not provided [RCV002474934]	Chr1:1130311..2397177 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1	copy number loss	not provided [RCV002474760]	Chr1:1129319..1264880 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_153339.3(PUSL1):c.619C>T (p.Pro207Ser)	single nucleotide variant	not specified [RCV004096267]	Chr1:1309826 [GRCh38] Chr1:1245206 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.673G>A (p.Glu225Lys)	single nucleotide variant	not specified [RCV004151460]	Chr1:1310662 [GRCh38] Chr1:1246042 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.472G>T (p.Asp158Tyr)	single nucleotide variant	not specified [RCV004212952]	Chr1:1309602 [GRCh38] Chr1:1244982 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.875G>A (p.Cys292Tyr)	single nucleotide variant	not specified [RCV004167182]	Chr1:1311342 [GRCh38] Chr1:1246722 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.826G>A (p.Gly276Ser)	single nucleotide variant	not specified [RCV004090810]	Chr1:1311035 [GRCh38] Chr1:1246415 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.169G>A (p.Val57Ile)	single nucleotide variant	not specified [RCV004238293]	Chr1:1309119 [GRCh38] Chr1:1244499 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.777G>T (p.Glu259Asp)	single nucleotide variant	not specified [RCV004149174]	Chr1:1310986 [GRCh38] Chr1:1246366 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.106C>T (p.Arg36Cys)	single nucleotide variant	not specified [RCV004166161]	Chr1:1308943 [GRCh38] Chr1:1244323 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.848T>C (p.Leu283Pro)	single nucleotide variant	not specified [RCV004232749]	Chr1:1311057 [GRCh38] Chr1:1246437 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.671T>C (p.Phe224Ser)	single nucleotide variant	not specified [RCV004154085]	Chr1:1310660 [GRCh38] Chr1:1246040 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.421C>T (p.Arg141Cys)	single nucleotide variant	not specified [RCV004080817]	Chr1:1309551 [GRCh38] Chr1:1244931 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.89C>T (p.Ala30Val)	single nucleotide variant	not specified [RCV004160329]	Chr1:1308926 [GRCh38] Chr1:1244306 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.827G>T (p.Gly276Val)	single nucleotide variant	not specified [RCV004179883]	Chr1:1311036 [GRCh38] Chr1:1246416 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.189C>A (p.Ser63Arg)	single nucleotide variant	not specified [RCV004170705]	Chr1:1309139 [GRCh38] Chr1:1244519 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.884A>C (p.Gln295Pro)	single nucleotide variant	not specified [RCV004230770]	Chr1:1311351 [GRCh38] Chr1:1246731 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.450C>G (p.Asn150Lys)	single nucleotide variant	not specified [RCV004273473]	Chr1:1309580 [GRCh38] Chr1:1244960 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV003226604]	Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_153339.3(PUSL1):c.677G>A (p.Ser226Asn)	single nucleotide variant	not specified [RCV004257968]	Chr1:1310666 [GRCh38] Chr1:1246046 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.118G>A (p.Val40Ile)	single nucleotide variant	not specified [RCV004250275]	Chr1:1308955 [GRCh38] Chr1:1244335 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.484A>G (p.Met162Val)	single nucleotide variant	not specified [RCV004316326]	Chr1:1309691 [GRCh38] Chr1:1245071 [GRCh37] Chr1:1p36.33	likely benign
NM_153339.3(PUSL1):c.106C>A (p.Arg36Ser)	single nucleotide variant	not specified [RCV004332505]	Chr1:1308943 [GRCh38] Chr1:1244323 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.232C>G (p.Leu78Val)	single nucleotide variant	not specified [RCV004365478]	Chr1:1309182 [GRCh38] Chr1:1244562 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.445C>T (p.Arg149Cys)	single nucleotide variant	not specified [RCV004365238]	Chr1:1309575 [GRCh38] Chr1:1244955 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.211G>C (p.Ala71Pro)	single nucleotide variant	not specified [RCV004348540]	Chr1:1309161 [GRCh38] Chr1:1244541 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	copy number gain	not provided [RCV003484001]	Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	copy number gain	not provided [RCV003484002]	Chr1:1138880..1647481 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	copy number gain	not provided [RCV003483999]	Chr1:1089596..2607016 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	copy number loss	not provided [RCV003482994]	Chr1:1182855..2431925 [GRCh37] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_153339.3(PUSL1):c.14C>A (p.Pro5Gln)	single nucleotide variant	not specified [RCV004438226]	Chr1:1308657 [GRCh38] Chr1:1244037 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_153339.3(PUSL1):c.184T>A (p.Ser62Thr)	single nucleotide variant	not specified [RCV004438227]	Chr1:1309134 [GRCh38] Chr1:1244514 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.271C>T (p.Pro91Ser)	single nucleotide variant	not specified [RCV004438228]	Chr1:1309221 [GRCh38] Chr1:1244601 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.404C>T (p.Ala135Val)	single nucleotide variant	not specified [RCV004438229]	Chr1:1309534 [GRCh38] Chr1:1244914 [GRCh37] Chr1:1p36.33	likely benign
NM_153339.3(PUSL1):c.872C>T (p.Ser291Phe)	single nucleotide variant	not specified [RCV004438233]	Chr1:1311339 [GRCh38] Chr1:1246719 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.463C>T (p.Leu155Phe)	single nucleotide variant	not specified [RCV004438230]	Chr1:1309593 [GRCh38] Chr1:1244973 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.767C>T (p.Thr256Met)	single nucleotide variant	not specified [RCV004438232]	Chr1:1310976 [GRCh38] Chr1:1246356 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.463C>G (p.Leu155Val)	single nucleotide variant	not specified [RCV004662760]	Chr1:1309593 [GRCh38] Chr1:1244973 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.434C>T (p.Pro145Leu)	single nucleotide variant	not specified [RCV004669295]	Chr1:1309564 [GRCh38] Chr1:1244944 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1146935)_(3768971_?)del	deletion	Shprintzen-Goldberg syndrome [RCV004584004]	Chr1:1146935..3768971 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_153339.3(PUSL1):c.686T>G (p.Phe229Cys)	single nucleotide variant	not specified [RCV004662759]	Chr1:1310675 [GRCh38] Chr1:1246055 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3	copy number gain	not provided [RCV004819296]	Chr1:849467..3153423 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_153339.3(PUSL1):c.443A>C (p.Glu148Ala)	single nucleotide variant	not specified [RCV004849582]	Chr1:1309573 [GRCh38] Chr1:1244953 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.397C>T (p.Arg133Cys)	single nucleotide variant	not specified [RCV004849583]	Chr1:1309527 [GRCh38] Chr1:1244907 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.128A>T (p.Tyr43Phe)	single nucleotide variant	not specified [RCV004849587]	Chr1:1308965 [GRCh38] Chr1:1244345 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.433C>T (p.Pro145Ser)	single nucleotide variant	not specified [RCV004849588]	Chr1:1309563 [GRCh38] Chr1:1244943 [GRCh37] Chr1:1p36.33	likely benign
NM_153339.3(PUSL1):c.100A>G (p.Thr34Ala)	single nucleotide variant	not specified [RCV004849575]	Chr1:1308937 [GRCh38] Chr1:1244317 [GRCh37] Chr1:1p36.33	likely benign
NM_153339.3(PUSL1):c.416A>G (p.His139Arg)	single nucleotide variant	not specified [RCV004849576]	Chr1:1309546 [GRCh38] Chr1:1244926 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.260C>T (p.Pro87Leu)	single nucleotide variant	not specified [RCV004849577]	Chr1:1309210 [GRCh38] Chr1:1244590 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.700G>A (p.Val234Ile)	single nucleotide variant	not specified [RCV004849578]	Chr1:1310909 [GRCh38] Chr1:1246289 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.16G>T (p.Ala6Ser)	single nucleotide variant	not specified [RCV004849579]	Chr1:1308659 [GRCh38] Chr1:1244039 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.268C>G (p.Pro90Ala)	single nucleotide variant	not specified [RCV004849580]	Chr1:1309218 [GRCh38] Chr1:1244598 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.158C>G (p.Ser53Cys)	single nucleotide variant	not specified [RCV004849581]	Chr1:1309108 [GRCh38] Chr1:1244488 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.288G>C (p.Glu96Asp)	single nucleotide variant	not specified [RCV004849585]	Chr1:1309238 [GRCh38] Chr1:1244618 [GRCh37] Chr1:1p36.33	uncertain significance
NM_153339.3(PUSL1):c.859C>G (p.Leu287Val)	single nucleotide variant	not specified [RCV004849586]	Chr1:1311068 [GRCh38] Chr1:1246448 [GRCh37] Chr1:1p36.33	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1861
Count of miRNA genes:	738
Interacting mature miRNAs:	881
Transcripts:	ENST00000379031, ENST00000463758, ENST00000467712, ENST00000470520, ENST00000493657
Prediction methods:	Microtar, Miranda, Rnahybrid
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
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
597478660	GWAS1574734_H	systemic lupus erythematosus QTL GWAS1574734 (human)		0.0000001	systemic lupus erythematosus		1	1309988	1309989	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human

RH91825

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,246,824 - 1,246,967	UniSTS	GRCh37
Build 36	1	1,236,687 - 1,236,830	RGD	NCBI36
Celera	1	1,334,174 - 1,334,317	RGD
Cytogenetic Map	1	p36.33	UniSTS
HuRef	1	518,426 - 518,569	UniSTS
GeneMap99-GB4 RH Map	1	15.89	UniSTS

RH76790

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,247,006 - 1,247,205	UniSTS	GRCh37
Build 36	1	1,236,869 - 1,237,068	RGD	NCBI36
Celera	1	1,333,936 - 1,334,135	RGD
Cytogenetic Map	1	p36.33	UniSTS
HuRef	1	518,608 - 518,807	UniSTS

D1S2520

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,247,047 - 1,247,151	UniSTS	GRCh37
Build 36	1	1,236,910 - 1,237,014	RGD	NCBI36
Celera	1	1,333,990 - 1,334,094	RGD
Cytogenetic Map	1	p36.33	UniSTS
HuRef	1	518,649 - 518,753	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	2253	4973	1726	2351	6	624	1948	465	2269	7303	6469	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001346116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_153339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_144369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005244720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024453057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047444716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047444722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054334255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002959328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_241027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK027721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ784021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY160725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000379031 ⟹ ENSP00000368318

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,308,597 - 1,311,677 (+)	Ensembl

Ensembl Acc Id:

ENST00000463758

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,308,788 - 1,309,840 (+)	Ensembl

Ensembl Acc Id:

ENST00000467712 ⟹ ENSP00000462968

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,308,821 - 1,311,069 (+)	Ensembl

Ensembl Acc Id:

ENST00000470520

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,308,611 - 1,311,028 (+)	Ensembl

Ensembl Acc Id:

ENST00000493657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,309,235 - 1,311,676 (+)	Ensembl

Ensembl Acc Id:

ENST00000706601

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,309,172 - 1,310,032 (+)	Ensembl

Ensembl Acc Id:

ENST00000706602

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,310,176 - 1,311,652 (+)	Ensembl

RefSeq Acc Id:

NM_001346116 ⟹ NP_001333045

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,311,677 (+)	NCBI
T2T-CHM13v2.0	1	740,148 - 743,228 (+)	NCBI

Sequence:

show sequence

ATTCCTGCGCTGGAGGCCGCCTCTGACGCCACCGGCTGGGCTCCGCCATGAGTTCGGCGCCGGCCTCAGGCTCCGTGCGCGCGCGCTATCTTGTGTACTTCCAGTACGTGGGCACCGACTTTAACGGG
GTCGCGGCCGTCAGGGGCACTCAGCGCGCCGTCGGGGTCCAGAACTACCTGGAGGAGGCCGCCGAGCGGCTGAATTCCGTGGAGCCGGTCAGGTTCACCATCTCCAGCCGCACGGACGCCGGGGTCCA
CGCCCTGAGCAACGCGGCGCACCTGGACGTCCAGCGCCGCTCAGGCCGGCCGCCCTTCCCGCCCGAGGTCCTGGCCGAGGCCCTCAACACACACCTGCGGCACCCGGCCATCAGGGTCCTGCGGGCCT
TCCGAGTGCCCAGCGACTTCCACGCTCGTCACGCAGCCACGTCCCGGACCTACCTGTACCGCCTGGCCACTGGCTGTCACCGGCGTGATGAGCTGCCGGTGTTTGAACGCAACCTATGCTGGACTCTC
CCGGCAGACTGCCTGGATATGGTCGCCATGCAGGAAGCCGCCCAGCACCTCCTCGGCACACACGACTTCAGCGCCTTCCAGTCCGCTGGCAGCCCGGTGCCGAGCCCCGTGCGAACGCTGCGCCGGGT
CTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGAAGCTGCGGTTCTGGAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTACGGAGGATGACGGCTGTGC
TGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGC
CAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGG
ATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCC
CGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGT
CTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGA

hide sequence

RefSeq Acc Id:

NM_153339 ⟹ NP_699170

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,311,677 (+)	NCBI
GRCh37	1	1,243,962 - 1,247,057 (+)	NCBI
Build 36	1	1,233,857 - 1,236,920 (+)	NCBI Archive
Celera	1	1,334,084 - 1,337,147 (-)	RGD
HuRef	1	515,603 - 518,659 (+)	RGD
CHM1_1	1	1,231,025 - 1,234,088 (+)	NCBI
T2T-CHM13v2.0	1	740,148 - 743,228 (+)	NCBI

Sequence:

show sequence

ATTCCTGCGCTGGAGGCCGCCTCTGACGCCACCGGCTGGGCTCCGCCATGAGTTCGGCGCCGGC
CTCAGGCTCCGTGCGCGCGCGCTATCTTGTGTACTTCCAGTACGTGGGCACCGACTTTAACGGGGTCGCGGCCGTCAGGGGCACTCAGCGCGCCGTCGGGGTCCAGAACTACCTGGAGGAGGCCGCCG
AGCGGCTGAATTCCGTGGAGCCGGTCAGGTTCACCATCTCCAGCCGCACGGACGCCGGGGTCCACGCCCTGAGCAACGCGGCGCACCTGGACGTCCAGCGCCGCTCAGGCCGGCCGCCCTTCCCGCCC
GAGGTCCTGGCCGAGGCCCTCAACACACACCTGCGGCACCCGGCCATCAGGGTCCTGCGGGCCTTCCGAGTGCCCAGCGACTTCCACGCTCGTCACGCAGCCACGTCCCGGACCTACCTGTACCGCCT
GGCCACTGGCTGTCACCGGCGTGATGAGCTGCCGGTGTTTGAACGCAACCTATGCTGGACTCTCCCGGCAGACTGCCTGGATATGGTCGCCATGCAGGAAGCCGCCCAGCACCTCCTCGGCACACACG
ACTTCAGCGCCTTCCAGTCCGCTGGCAGCCCGGTGCCGAGCCCCGTGCGAACGCTGCGCCGGGTCTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGAAGCTGCGGTTC
TGGAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGA
TCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGGATGAC
CCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCCCGGGT
CCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGTCTAGG
ACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGA

hide sequence

RefSeq Acc Id:

NR_144369

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,311,677 (+)	NCBI
T2T-CHM13v2.0	1	740,148 - 743,228 (+)	NCBI

Sequence:

show sequence

ATTCCTGCGCTGGAGGCCGCCTCTGACGCCACCGGCTGGGCTCCGCCATGAGTTCGGCGCCGGC
CTCAGGCTCCGTGCGCGCGCGCTATCTTGTGTACTTCCAGTACGTGGGCACCGACTTTAAGAGGCCGCCGAGCGGCTGAATTCCGTGGAGCCGGTCAGGTTCACCATCTCCAGCCGCACGGACGCCGG
GGTCCACGCCCTGAGCAACGCGGCGCACCTGGACGTCCAGCGCCGCTCAGGCCGGCCGCCCTTCCCGCCCGAGGTCCTGGCCGAGGCCCTCAACACACACCTGCGGCACCCGGCCATCAGGGTCCTGC
GGGCCTTCCGAGTGCCCAGCGACTTCCACGCTCGTCACGCAGCCACGTCCCGGACCTACCTGTACCGCCTGGCCACTGGCTGTCACCGGCGTGATGAGCTGCCGGTGTTTGAACGCAACCTATGCTGG
ACTCTCCCGGCAGACTGCCTGGATATGGTCGCCATGCAGGAAGCCGCCCAGCACCTCCTCGGCACACACGACTTCAGCGCCTTCCAGTCCGCTGGCAGCCCGGTGCCGAGCCCCGTGCGAACGCTGCG
CCGGGTCTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGAAGCTGCGGTTCTGGAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTACGGAGGATGACGG
CTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCA
GTGCTGTACGGGAACCTCGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGGATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCC
AGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCCCGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACAC
AGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGTCTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGA

hide sequence

RefSeq Acc Id:

XM_005244720 ⟹ XP_005244777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,310,853 (+)	NCBI
GRCh37	1	1,243,962 - 1,247,057 (+)	NCBI

Sequence:

show sequence

GGGCGTGACCAGGCCGCGTCCGCGCGCGCGCAGGATTCCTGCGCTGGAGGCCGCCTCTGACGCCACCGGCTGGGCTCCGCCATGAGTTCGGCGCCGGCCTCAGGCTCCGTGCGCGCGCGCTATCTTGT
GTACTTCCAGTACGTGGGCACCGACTTTAACGGGGTCGCGGCCGTCAGGGGCACTCAGCGCGCCGTCGGGGTCCAGAACTACCTGGAGGAGGCCGCCGAGCGGCTGAATTCCGTGGAGCCGGTCAGGT
TCACCATCTCCAGCCGCACGGACGCCGGGGTCCACGCCCTGAGCAACGCGGCGCACCTGGACGTCCAGCGCCGCTCAGGCCGGCCGCCCTTCCCGCCCGAGGTCCTGGCCGAGGCCCTCAACACACAC
CTGCGGCACCCGGCCATCAGGGTCCTGCGGGCCTTCCGAGTGCCCAGCGACTTCCACGCTCGTCACGCAGCCACGTCCCGGACCTACCTGTACCGCCTGGCCACTGGCTGTCACCGGCGTGATGAGCT
GCCGGTGTTTGAACGCAACCTATGCTGGACTCTCCCGGCAGAGAAGCCGCCCAGCACCTCCTCGGCACACACGACTTCAGCGCCTTCCAGTCCGCTGGCAGCCCGGTGCCGAGCCCCGTGCGAACGCT
GCGCCGGGTCTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGAAGCTGCGGTTCTGGAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTACGGAGGATGA
CGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTG

hide sequence

RefSeq Acc Id:

XM_024453057 ⟹ XP_024308825

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,311,677 (+)	NCBI

Sequence:

show sequence

GGCCGCGTCCGCGCGCGCGCAGGATTCCTGCGCTGGAGGCCGCCTCTGACGCCACCGGCTGGGC
TCCGCCATGAGTTCGGCGCCGGCCTCAGGCTCCGTGCGCGCGCGCTATCTTGTGTACTTCCAGTACGTGGGCACCGACTTTAACGGGGTCGCGGCCGTCAGGGGCACTCAGCGCGCCGTCGGGGTCCA
GAACTACCTGGAGGAGGCCGCCGAGCGGCTGAATTCCGTGGAGCCGGTCAGGTTCACCATCTCCAGCCGCACGGACGCCGGGGTCCACGCCCTGAGCAACGCGGCGCACCTGGACGTCCAGCGCCGCT
CAGGCCGGCCGCCCTTCCCGCCCGAGGTCCTGGCCGAGGCCCTCAACACACACCTGCGGCACCCGGCCATCAGGGTCCTGCGGGCCTTCCGAGTGCCCAGCGACTTCCACGCTCGTCACGCAGCCACG
TCCCGGACCTACCTGTACCGCCTGGCCACTGGCTGTCACCGGCGTGATGAGCTGCCGGTGTTTGAACGCAACCTATGCTGGACTCTCCCGGCAGAGAAGCCGCCCAGCACCTCCTCGGCACACACGAC
TTCAGCGCCTTCCAGTCCGCTGGCAGCCCGGTGCCGAGCCCCGTGCGAACGCTGCGCCGGGTCTCCGTTTCCCCAGGCCAAGCCAGCCCCTTGGTCACCCCCGAGGAGAGCAGGAAGCTGCGGTTCTG
GAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGAT
TCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCG
GGAGCCACGGATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAG
CCTCCCTGCCCGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGG
AAACTGCTGTCTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGA

hide sequence

RefSeq Acc Id:

XM_047444716 ⟹ XP_047300672

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,311,016 (+)	NCBI

RefSeq Acc Id:

XM_047444722 ⟹ XP_047300678

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,311,071 (+)	NCBI

RefSeq Acc Id:

XM_054334252 ⟹ XP_054190227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	740,148 - 743,228 (+)	NCBI

RefSeq Acc Id:

XM_054334253 ⟹ XP_054190228

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	740,148 - 742,567 (+)	NCBI

RefSeq Acc Id:

XM_054334254 ⟹ XP_054190229

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	740,148 - 742,622 (+)	NCBI

RefSeq Acc Id:

XM_054334255 ⟹ XP_054190230

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	740,148 - 742,404 (+)	NCBI


Protein RefSeqs	NP_001333045	(Get FASTA)	NCBI Sequence Viewer
	NP_699170	(Get FASTA)	NCBI Sequence Viewer
	XP_005244777	(Get FASTA)	NCBI Sequence Viewer
	XP_024308825	(Get FASTA)	NCBI Sequence Viewer
	XP_047300672	(Get FASTA)	NCBI Sequence Viewer
	XP_047300678	(Get FASTA)	NCBI Sequence Viewer
	XP_054190227	(Get FASTA)	NCBI Sequence Viewer
	XP_054190228	(Get FASTA)	NCBI Sequence Viewer
	XP_054190229	(Get FASTA)	NCBI Sequence Viewer
	XP_054190230	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH34304	(Get FASTA)	NCBI Sequence Viewer
	BAC11527	(Get FASTA)	NCBI Sequence Viewer
	BAG60488	(Get FASTA)	NCBI Sequence Viewer
	CAF86973	(Get FASTA)	NCBI Sequence Viewer
	EAW56245	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000368318
	ENSP00000368318.5
GenBank Protein	Q8N0Z8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_699170 ⟸ NM_153339
- Peptide Label:	isoform 2
- UniProtKB:	B4DP76 (UniProtKB/Swiss-Prot), Q5TA41 (UniProtKB/Swiss-Prot), Q8N0Z8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFTISSRTDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFHARHAATSR TYLYRLATGCHRRDELPVFERNLCWTLPADCLDMVAMQEAAQHLLGTHDFSAFQSAGSPVPSPVRTLRRVSVSPGQASPLVTPEESRKLRFWNLEFESQSFLYRQVRRMTAVLVAVGLGALAPAQVKT ILESQDPLGKHQTRVAPAHGLFLKSVLYGNLGAASCTLQGPQFGSHG hide sequence

RefSeq Acc Id:

XP_005244777 ⟸ XM_005244720

- Peptide Label:

isoform X4

- Sequence:

show sequence

MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFTISSR
TDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFHARHAATSRTYLYRLATGCHRRDELPVFERNLCWTLPAEKPPSTSSAHTTSAPSSPLAARCRAPCERCAGSPF
PQAKPAPWSPPRRAGSCGSGTWSLRASLSCIDRYGG

hide sequence

RefSeq Acc Id:

XP_024308825 ⟸ XM_024453057

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFTISSR
TDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFHARHAATSRTYLYRLATGCHRRDELPVFERNLCWTLPAEKPPSTSSAHTTSAPSSPLAARCRAPCERCAGSPF
PQAKPAPWSPPRRAGSCGSGTWSLRASLSCIDRWLWVTGTEDDGCAGGRGAGGFGTCPGEDDSGEPRSPGQAPDTCSPSPRLIPQVSAVREPRCCLLHPAGATVREPRMTLDTQAKVRPHQAQPCAGQ
ARAVTAAWGPQHCCLVSTVASLPGSQHPGCPSLSQAGWGTVQDTAMYTKKRVPSSLLFSFYWKLLSRTTCPNQE

hide sequence

RefSeq Acc Id:

NP_001333045 ⟸ NM_001346116

- Peptide Label:

isoform 1

- Sequence:

show sequence

MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFTISSRTDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFHARHAATSR
TYLYRLATGCHRRDELPVFERNLCWTLPADCLDMVAMQEAAQHLLGTHDFSAFQSAGSPVPSPVRTLRRVSVSPGQASPLVTPEESRKLRFWNLEFESQSFLYRQVRRMTAVLVGHGRLWVTGGSGSQ
VRRMTAVLVAVGLGALAPAQVKTILESQDPLGKHQTRVAPAHGLFLKSVLYGNLGAASCTLQGPQFGSHG

hide sequence

Ensembl Acc Id:

ENSP00000462968 ⟸ ENST00000467712

Protein Domains

Pseudouridine synthase I TruA alpha/beta

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N0Z8-F1-model_v2	AlphaFold	Q8N0Z8	1-303	view protein structure

RGD ID:

6786359

Promoter ID:

HG_KWN:154

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000009438, OTTHUMT00000009440, OTTHUMT00000009441, OTTHUMT00000009442, UC009VJX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	1,233,816 - 1,234,512 (+)	MPROMDB

RGD ID:

6853710

Promoter ID:

EPDNEW_H20

Type:

initiation region

Name:

PUSL1_2

Description:

pseudouridylate synthase-like 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,188 - 1,308,248	EPDNEW

RGD ID:

6853712

Promoter ID:

EPDNEW_H21

Type:

initiation region

Name:

PUSL1_1

Description:

pseudouridylate synthase-like 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,308,597 - 1,308,657	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PUSL1	COSMIC
Ensembl Genes	ENSG00000169972	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000379031	ENTREZGENE
	ENST00000379031.10	UniProtKB/Swiss-Prot
	ENST00000470520	ENTREZGENE
Gene3D-CATH	3.30.70.580	UniProtKB/Swiss-Prot
	3.30.70.660	UniProtKB/Swiss-Prot
GTEx	ENSG00000169972	GTEx
HGNC ID	HGNC:26914	ENTREZGENE
Human Proteome Map	PUSL1	Human Proteome Map
InterPro	PsdUridine_synth_cat_dom_sf	UniProtKB/Swiss-Prot
	PsdUridine_synth_TruA	UniProtKB/Swiss-Prot
	PsdUridine_synth_TruA_a/b_dom	UniProtKB/Swiss-Prot
	PsdUridine_synth_TruA_C	UniProtKB/Swiss-Prot
	TruA/RsuA/RluB/E/F_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:126789	UniProtKB/Swiss-Prot
NCBI Gene	126789	ENTREZGENE
PANTHER	PTHR11142	UniProtKB/Swiss-Prot
	TRNA PSEUDOURIDINE SYNTHASE-LIKE 1	UniProtKB/Swiss-Prot
Pfam	PseudoU_synth_1	UniProtKB/Swiss-Prot
PharmGKB	PA134947837	PharmGKB
PIRSF	tRNA_psdUrid_synth	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF55120	UniProtKB/Swiss-Prot
UniProt	B4DP76	ENTREZGENE
	J3KTG4_HUMAN	UniProtKB/TrEMBL
	PUSL1_HUMAN	UniProtKB/Swiss-Prot
	Q5TA41	ENTREZGENE
	Q8N0Z8	ENTREZGENE
UniProt Secondary	B4DP76	UniProtKB/Swiss-Prot
	Q5TA41	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-09-18	PUSL1	pseudouridine synthase like 1		pseudouridylate synthase like 1	Symbol and/or name change	5135510	APPROVED
2018-05-01	PUSL1	pseudouridylate synthase like 1		pseudouridylate synthase-like 1	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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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar