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Gene: BORCS5 (BLOC-1 related complex subunit 5) Homo sapiens

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Symbol:

BORCS5

Name:

BLOC-1 related complex subunit 5

RGD ID:

1316927

HGNC Page

HGNC:17950

Description:

Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

BLOC-1-related complex subunit 5; LOH12CR1; LOH1CR12; loss of heterozygosity 12 chromosomal region 1 protein; loss of heterozygosity, 12, chromosomal region 1; myrlysin

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):	Borcs5 (BLOC-1 related complex subunit 5)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Borcs5 (BLOC-1 related complex subunit 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Borcs5 (BLOC-1 related complex subunit 5)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BORCS5 (BLOC-1 related complex subunit 5)	NCBI	Ortholog
Canis lupus familiaris (dog):	BORCS5 (BLOC-1 related complex subunit 5)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Borcs5 (BLOC-1 related complex subunit 5)	NCBI	Ortholog
Sus scrofa (pig):	BORCS5 (BLOC-1 related complex subunit 5)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	BORCS5 (BLOC-1 related complex subunit 5)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Borcs5 (BLOC-1 related complex subunit 5)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Borcs5 (BLOC-1 related complex subunit 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Borcs5 (BLOC-1 related complex subunit 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	borcs5 (BLOC-1 related complex subunit 5)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG11802	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	sam-4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	borcs5.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	borcs5	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	12	12,357,078 - 12,471,233 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	12,357,078 - 12,471,233 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	12,510,012 - 12,624,167 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	12,401,322 - 12,511,105 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	12,401,321 - 12,511,105	NCBI
Celera	12	17,653,635 - 17,763,988 (+)	NCBI		Celera
Cytogenetic Map	12	p13.2	NCBI
HuRef	12	12,275,116 - 12,385,078 (+)	NCBI		HuRef
CHM1_1	12	12,475,001 - 12,584,853 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	12,226,205 - 12,340,409 (+)	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)
BORCS5	Human	colorectal adenocarcinoma	susceptibility	IAGP		152177496	DNA:SNP:3'utr: (rs3803098) A>G (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
BORCS5	Human	Agenesis of Corpus Callosum		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Corpus callosum and agenesis of	ClinVar	PMID:27435318
BORCS5	Human	autosomal dominant intellectual developmental disorder 6		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability and autosomal dominant 6	ClinVar	PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
BORCS5	Human	1,2-dimethylhydrazine	increases expression	ISO	Borcs5 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of BORCS5 mRNA	CTD	PMID:22206623
BORCS5	Human	17alpha-ethynylestradiol	increases expression	ISO	Borcs5 (Mus musculus)	6480464	Ethinyl Estradiol results in increased expression of BORCS5 mRNA	CTD	PMID:17942748
BORCS5	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Borcs5 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BORCS5 mRNA	CTD	PMID:17942748
BORCS5	Human	17alpha-ethynylestradiol	affects expression	ISO	Borcs5 (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of BORCS5 mRNA	CTD	PMID:17555576
BORCS5	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Borcs5 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BORCS5 mRNA	CTD	PMID:17942748
BORCS5	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Borcs5 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of BORCS5 mRNA	CTD	PMID:33387578
BORCS5	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Borcs5 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of BORCS5 mRNA	CTD	PMID:32109520
BORCS5	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Borcs5 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of BORCS5 mRNA	CTD	PMID:21570461
BORCS5	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	Borcs5 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in increased expression of BORCS5 mRNA	CTD	PMID:20188158
BORCS5	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BORCS5 mRNA and [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of BORCS5 mRNA	CTD	PMID:28628672
BORCS5	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of BORCS5 mRNA	CTD	PMID:28628672
BORCS5	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of BORCS5 mRNA	CTD	PMID:32763439
BORCS5	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of BORCS5 mRNA	CTD	PMID:27153756
BORCS5	Human	benzo[a]pyrene	decreases expression	ISO	Borcs5 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of BORCS5 mRNA	CTD	PMID:21715664
BORCS5	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of BORCS5 mRNA	CTD	PMID:31715268
BORCS5	Human	bisphenol A	increases expression	ISO	Borcs5 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of BORCS5 mRNA	CTD	PMID:30816183 and PMID:32528016
BORCS5	Human	bisphenol A	decreases expression	ISO	Borcs5 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of BORCS5 mRNA	CTD	PMID:25181051
BORCS5	Human	bisphenol F	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BORCS5 mRNA	CTD	PMID:28628672
BORCS5	Human	bisphenol F	decreases expression	ISO	Borcs5 (Mus musculus)	6480464	bisphenol F results in decreased expression of BORCS5 mRNA	CTD	PMID:38685157
BORCS5	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of BORCS5 protein	CTD	PMID:35688186
BORCS5	Human	chlorpyrifos	increases expression	ISO	Borcs5 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of BORCS5 mRNA	CTD	PMID:37019170
BORCS5	Human	copper(II) sulfate	affects expression	EXP		6480464	Copper Sulfate affects the expression of BORCS5 mRNA	CTD	PMID:19549813
BORCS5	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of BORCS5 mRNA	CTD	PMID:25562108
BORCS5	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BORCS5 mRNA and [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of BORCS5 mRNA	CTD	PMID:28628672
BORCS5	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of BORCS5 mRNA	CTD	PMID:37042841
BORCS5	Human	doxorubicin	affects expression	EXP		6480464	Doxorubicin affects the expression of BORCS5 mRNA	CTD	PMID:29803840
BORCS5	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of BORCS5 protein	CTD	PMID:37730182
BORCS5	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of BORCS5 mRNA and [INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in increased expression of BORCS5 mRNA	CTD	PMID:28628672
BORCS5	Human	paracetamol	increases expression	ISO	Borcs5 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of BORCS5 mRNA	CTD	PMID:33387578
BORCS5	Human	phenobarbital	affects expression	EXP		6480464	Phenobarbital affects the expression of BORCS5 mRNA	CTD	PMID:19159669
BORCS5	Human	sodium fluoride	decreases expression	ISO	Borcs5 (Mus musculus)	6480464	Sodium Fluoride results in decreased expression of BORCS5 protein	CTD	PMID:28918527
BORCS5	Human	tamoxifen	affects expression	ISO	Borcs5 (Mus musculus)	6480464	Tamoxifen affects the expression of BORCS5 mRNA	CTD	PMID:17555576
BORCS5	Human	testosterone	increases expression	EXP		6480464	Testosterone results in increased expression of BORCS5 mRNA	CTD	PMID:33359661
BORCS5	Human	titanium dioxide	decreases methylation	ISO	Borcs5 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of BORCS5 gene	CTD	PMID:35295148
BORCS5	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of BORCS5 mRNA	CTD	PMID:37042841
BORCS5	Human	triptonide	decreases expression	ISO	Borcs5 (Mus musculus)	6480464	triptonide results in decreased expression of BORCS5 mRNA	CTD	PMID:33045310
BORCS5	Human	trovafloxacin	decreases expression	ISO	Borcs5 (Mus musculus)	6480464	trovafloxacin results in decreased expression of BORCS5 mRNA	CTD	PMID:35537566
BORCS5	Human	valproic acid	increases expression	ISO	Borcs5 (Mus musculus)	6480464	Valproic Acid results in increased expression of BORCS5 mRNA	CTD	PMID:21427059
BORCS5	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of BORCS5 mRNA	CTD	PMID:29154799

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)
BORCS5	Human	lysosome localization	involved_in	IMP		150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	lysosome localization	involved_in	IBA	PANTHER:PTN001269970 and UniProtKB:Q969J3	150520179		GO_Central	GO_REF:0000033
BORCS5	Human	lysosome localization	involved_in	NAS		150520179	PMID:25898167	ComplexPortal	PMID:25898167
BORCS5	Human	lysosome localization	involved_in	IEA	InterPro:IPR018780	150520179		InterPro	GO_REF:0000002
BORCS5	Human	nervous system development	acts_upstream_of_or_within	IEA	UniProtKB:Q9D920 and ensembl:ENSMUSP00000054913	150520179		Ensembl	GO_REF:0000107
BORCS5	Human	organelle transport along microtubule	involved_in	IMP		150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	organelle transport along microtubule	acts_upstream_of_or_within	IEA	UniProtKB:Q9D920 and ensembl:ENSMUSP00000054913	150520179		Ensembl	GO_REF:0000107
BORCS5	Human	organelle transport along microtubule	involved_in	NAS		150520179	PMID:25898167	ComplexPortal	PMID:25898167
BORCS5	Human	organelle transport along microtubule	involved_in	IBA	MGI:1915024 more ...	150520179		GO_Central	GO_REF:0000033
BORCS5	Human	positive regulation of anterograde synaptic vesicle transport	involved_in	IBA	PANTHER:PTN001269970 and WB:WBGene00019126	150520179		GO_Central	GO_REF:0000033
BORCS5	Human	regulation of endosome size	involved_in	NAS		150520179	PMID:31314175	ComplexPortal	PMID:31314175
BORCS5	Human	regulation of lysosome size	involved_in	NAS		150520179	PMID:31314175	ComplexPortal	PMID:31314175

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)
BORCS5	Human	axon	is_active_in	IEA	UniProtKB:Q9D920 and ensembl:ENSMUSP00000054913	150520179		Ensembl	GO_REF:0000107
BORCS5	Human	BORC complex	part_of	IPI		150520179	PMID:25898167	ComplexPortal	PMID:25898167
BORCS5	Human	BORC complex	part_of	IDA		150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	BORC complex	part_of	IBA	PANTHER:PTN001269970 and UniProtKB:Q969J3	150520179		GO_Central	GO_REF:0000033
BORCS5	Human	cytoplasmic side of lysosomal membrane	located_in	IMP		150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	cytoplasmic side of lysosomal membrane	is_active_in	IBA	PANTHER:PTN001269970 and UniProtKB:Q969J3	150520179		GO_Central	GO_REF:0000033
BORCS5	Human	cytoplasmic side of lysosomal membrane	located_in	NAS		150520179	PMID:25898167	ComplexPortal	PMID:25898167
BORCS5	Human	intracellular membrane-bounded organelle	located_in	IDA		150520179		HPA	GO_REF:0000052
BORCS5	Human	lysosomal membrane	located_in	IEA	UniProtKB-SubCell:SL-0157	150520179		UniProt	GO_REF:0000044
BORCS5	Human	lysosome	located_in	IEA	UniProtKB-KW:KW-0458	150520179		UniProt	GO_REF:0000043
BORCS5	Human	lysosome	is_active_in	IEA	UniProtKB:Q9D920 and ensembl:ENSMUSP00000054913	150520179		Ensembl	GO_REF:0000107
BORCS5	Human	membrane	located_in	IMP		150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
BORCS5	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052
BORCS5	Human	plus-end kinesin complex	located_in	IDA		150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	synaptic vesicle membrane	is_active_in	IBA	PANTHER:PTN001269970 and WB:WBGene00019126	150520179		GO_Central	GO_REF:0000033

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)
BORCS5	Human	protein binding	enables	IPI	UniProtKB:A0A1B0GWI1	150520179	PMID:32296183	IntAct	PMID:32296183
BORCS5	Human	protein binding	enables	IPI	UniProtKB:Q9UHX1	150520179	PMID:16189514 and PMID:25416956	IntAct	PMID:16189514 and PMID:25416956
BORCS5	Human	protein binding	enables	IPI	UniProtKB:O95295 more ...	150520179	PMID:25898167	UniProt	PMID:25898167
BORCS5	Human	protein binding	enables	IPI	UniProtKB:O14901	150520179	PMID:32814053	IntAct	PMID:32814053

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
BORCS5	Human	Neoplasm of the large intestine	susceptibility	IAGP		152177496	DNA:SNP:3'utr: (rs3803098) A>G (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
BORCS5	Human	Agenesis of corpus callosum		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Corpus callosum and agenesis of	ClinVar	PMID:27435318

#	Reference Title	Reference Citation
1.	Impact of Genetic Variation in MicroRNA-binding Site on Susceptibility to Colorectal Cancer.	Kang BW, etal., Anticancer Res. 2016 Jul;36(7):3353-61.
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:11896457	PMID:12477932	PMID:15284860	PMID:15342556	PMID:16189514	PMID:20473970	PMID:21873635	PMID:21901101	PMID:23128233	PMID:25416956	PMID:25898167	PMID:26186194
PMID:28514442	PMID:28718761	PMID:29568061	PMID:29879888	PMID:30862715	PMID:31314175	PMID:31488873	PMID:32296183	PMID:32814053	PMID:33961781	PMID:34079125	PMID:34432599
PMID:34709727	PMID:35271311	PMID:36717601	PMID:36931259

BORCS5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	12,357,078 - 12,471,233 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	12,357,078 - 12,471,233 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	12,510,012 - 12,624,167 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	12,401,322 - 12,511,105 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	12,401,321 - 12,511,105	NCBI
Celera	12	17,653,635 - 17,763,988 (+)	NCBI		Celera
Cytogenetic Map	12	p13.2	NCBI
HuRef	12	12,275,116 - 12,385,078 (+)	NCBI		HuRef
CHM1_1	12	12,475,001 - 12,584,853 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	12,226,205 - 12,340,409 (+)	NCBI		T2T-CHM13v2.0

Borcs5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	134,616,475 - 134,688,147 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	134,616,473 - 134,688,150 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	134,639,512 - 134,711,184 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	134,639,510 - 134,711,187 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	134,589,530 - 134,661,202 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	134,606,674 - 134,676,863 (+)	NCBI		MGSCv36	mm8
Celera	6	137,587,872 - 137,663,447 (+)	NCBI		Celera
Cytogenetic Map	6	G1	NCBI
cM Map	6	65.77	NCBI

Borcs5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	169,190,025 - 169,272,335 (+)	NCBI		GRCr8
mRatBN7.2	4	167,458,640 - 167,543,556 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	167,473,177 - 167,540,993 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	173,766,789 - 173,834,399 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	169,549,869 - 169,617,480 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	168,175,487 - 168,241,125 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	168,396,034 - 168,466,968 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	168,396,775 - 168,464,352 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	232,664,705 - 232,748,296 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	171,545,892 - 171,614,610 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	171,790,759 - 171,858,467 (+)	NCBI
Celera	4	156,072,931 - 156,138,582 (+)	NCBI		Celera
Cytogenetic Map	4	q43	NCBI

Borcs5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955413	9,309,861 - 9,399,378 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	9,309,766 - 9,399,378 (+)	NCBI	ChiLan1.0	ChiLan1.0

BORCS5
(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	10	17,823,289 - 17,950,691 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	17,820,048 - 17,950,110 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	12,380,071 - 12,488,735 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	12,749,085 - 12,857,043 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	12,749,104 - 12,857,043 (+)	Ensembl	panpan1.1		panPan2

BORCS5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	33,839,345 - 33,949,056 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	33,837,318 - 33,934,896 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	12,496,789 - 12,606,369 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	34,146,425 - 34,256,421 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	34,144,391 - 34,242,102 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	34,039,090 - 34,148,751 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	33,988,879 - 34,098,859 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	12,228,438 - 12,340,603 (+)	NCBI		UU_Cfam_GSD_1.0

Borcs5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	95,078,900 - 95,178,702 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936587	4,806,113 - 4,906,411 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936587	4,806,537 - 4,906,301 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BORCS5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	59,970,260 - 60,072,942 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	59,969,806 - 60,072,976 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

BORCS5
(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	11	12,259,080 - 12,363,576 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	12,259,495 - 12,364,740 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666069	22,956,199 - 23,063,114 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Borcs5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624752	25,382,796 - 25,504,989 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	25,418,206 - 25,504,658 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in BORCS5
28 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	copy number loss	See cases [RCV000050816]	Chr12:11771233..13547775 [GRCh38] Chr12:11924167..13700709 [GRCh37] Chr12:11815434..13591976 [NCBI36] Chr12:12p13.2-13.1	pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	copy number loss	See cases [RCV000052780]	Chr12:12388842..15540422 [GRCh38] Chr12:12541776..15693356 [GRCh37] Chr12:12433043..15584623 [NCBI36] Chr12:12p13.2-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	copy number loss	not provided [RCV002292878]	Chr12:10853887..24103810 [GRCh37] Chr12:12p13.2-12.1	pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	copy number loss	See cases [RCV000135331]	Chr12:12363649..15280588 [GRCh38] Chr12:12514722..15433522 [GRCh37] Chr12:12405989..15324789 [NCBI36] Chr12:12p13.2-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	copy number gain	See cases [RCV000137694]	Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	copy number loss	See cases [RCV000142882]	Chr12:11121039..15908154 [GRCh38] Chr12:11273638..16061088 [GRCh37] Chr12:11164905..15952355 [NCBI36] Chr12:12p13.2-12.3	likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207111]	Chr12:12419642..13256423 [GRCh37] Chr12:12p13.2-13.1	uncertain significance
chr12:10074776-18800953 complex variant	complex	Breast ductal adenocarcinoma [RCV000207105]	Chr12:10074776..18800953 [GRCh37] Chr12:12p13.31-12.3	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.2(chr12:12482956-12514722)x1	copy number loss	See cases [RCV000448429]	Chr12:12482956..12514722 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_058169.6(BORCS5):c.203-1G>T	single nucleotide variant	Corpus callosum, agenesis of [RCV000491216]\|not provided [RCV004765325]	Chr12:12435627 [GRCh38] Chr12:12588561 [GRCh37] Chr12:12p13.2	likely pathogenic\|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	copy number loss	not provided [RCV000683470]	Chr12:10717428..14032860 [GRCh37] Chr12:12p13.2-13.1	pathogenic
GRCh37/hg19 12p13.2(chr12:12546745-12773521)x3	copy number gain	not provided [RCV000683407]	Chr12:12546745..12773521 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
GRCh37/hg19 12p13.2(chr12:12529865-12541869)x0	copy number loss	not provided [RCV000750300]	Chr12:12529865..12541869 [GRCh37] Chr12:12p13.2	benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	copy number loss	Multiple endocrine neoplasia type 4 [RCV000767604]	Chr12:10336209..13535349 [GRCh37] Chr12:12p13.2-13.1	pathogenic
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	copy number loss	not provided [RCV001006482]	Chr12:11737824..16780886 [GRCh37] Chr12:12p13.2-12.3	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.2(chr12:12315218-12520905)x3	copy number gain	not provided [RCV001006483]	Chr12:12315218..12520905 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh37/hg19 12p13.2(chr12:12315219-12520934)x3	copy number gain	not provided [RCV001834220]	Chr12:12315219..12520934 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NC_000012.11:g.(?_11803062)_(15835885_?)dup	duplication	Intellectual disability, autosomal dominant 6 [RCV001931714]\|not provided [RCV001946435]	Chr12:11803062..15835885 [GRCh37] Chr12:12p13.2-12.3	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	copy number loss	Intellectual disability [RCV003320282]	Chr12:11463270..14019142 [GRCh37] Chr12:12p13.2-13.1	pathogenic
NM_058169.6(BORCS5):c.575G>A (p.Arg192His)	single nucleotide variant	not specified [RCV004219424]	Chr12:12465760 [GRCh38] Chr12:12618694 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.574C>T (p.Arg192Cys)	single nucleotide variant	not specified [RCV004240351]	Chr12:12465759 [GRCh38] Chr12:12618693 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.64C>A (p.Pro22Thr)	single nucleotide variant	not specified [RCV004159708]	Chr12:12361211 [GRCh38] Chr12:12514145 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.502C>T (p.Pro168Ser)	single nucleotide variant	not specified [RCV004146999]	Chr12:12465687 [GRCh38] Chr12:12618621 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.236C>A (p.Ala79Asp)	single nucleotide variant	not specified [RCV004101264]	Chr12:12435661 [GRCh38] Chr12:12588595 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.76A>G (p.Lys26Glu)	single nucleotide variant	not specified [RCV004084976]	Chr12:12361223 [GRCh38] Chr12:12514157 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.139G>A (p.Val47Ile)	single nucleotide variant	not specified [RCV004184682]	Chr12:12361286 [GRCh38] Chr12:12514220 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_058169.6(BORCS5):c.134G>A (p.Arg45Gln)	single nucleotide variant	not specified [RCV004252907]	Chr12:12361281 [GRCh38] Chr12:12514215 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.572A>G (p.Asp191Gly)	single nucleotide variant	not specified [RCV004339340]	Chr12:12465757 [GRCh38] Chr12:12618691 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	copy number gain	not provided [RCV003448563]	Chr12:12003929..12652405 [GRCh38] Chr12:12p13.2-13.1	uncertain significance
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_058169.6(BORCS5):c.533C>A (p.Pro178His)	single nucleotide variant	not specified [RCV004434109]	Chr12:12465718 [GRCh38] Chr12:12618652 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.568C>A (p.Pro190Thr)	single nucleotide variant	not specified [RCV004434110]	Chr12:12465753 [GRCh38] Chr12:12618687 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.460G>A (p.Ala154Thr)	single nucleotide variant	not specified [RCV004434108]	Chr12:12465645 [GRCh38] Chr12:12618579 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.354C>G (p.Ile118Met)	single nucleotide variant	not specified [RCV004434107]	Chr12:12435779 [GRCh38] Chr12:12588713 [GRCh37] Chr12:12p13.2	uncertain significance
GRCh37/hg19 12p13.2-11.1(chr12:10155706-34051988)x3	copy number gain	not provided [RCV004819309]	Chr12:10155706..34051988 [GRCh37] Chr12:12p13.2-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	copy number gain	not provided [RCV004819308]	Chr12:173787..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_058169.6(BORCS5):c.545G>A (p.Arg182Gln)	single nucleotide variant	not specified [RCV004897878]	Chr12:12465730 [GRCh38] Chr12:12618664 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.154G>A (p.Asp52Asn)	single nucleotide variant	not specified [RCV004897880]	Chr12:12361301 [GRCh38] Chr12:12514235 [GRCh37] Chr12:12p13.2	uncertain significance
NM_058169.6(BORCS5):c.526A>G (p.Met176Val)	single nucleotide variant	not specified [RCV004897881]	Chr12:12465711 [GRCh38] Chr12:12618645 [GRCh37] Chr12:12p13.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1378
Count of miRNA genes:	763
Interacting mature miRNAs:	878
Transcripts:	ENST00000298571, ENST00000314565, ENST00000542728, ENST00000543990
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597163218	GWAS1259292_H	skeletal age QTL GWAS1259292 (human)		0.0000003	skeletal age		12	12466930	12466931	Human
597335837	GWAS1431911_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1431911 (human)		4e-08	severe acute respiratory syndrome, COVID-19		12	12427727	12427728	Human
597158811	GWAS1254885_H	lipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1254885 (human)		5e-08	lipid measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	12	12433055	12433056	Human
406983638	GWAS632614_H	balding measurement QTL GWAS632614 (human)		2e-12	hair amount (VT:0000416)	coat/hair morphological measurement (CMO:0001807)	12	12423062	12423063	Human
406982679	GWAS631655_H	memory performance QTL GWAS631655 (human)		0.000008	memory performance		12	12404666	12404667	Human
597029315	GWAS1125389_H	balding measurement QTL GWAS1125389 (human)		4e-08	hair amount (VT:0000416)	coat/hair morphological measurement (CMO:0001807)	12	12422237	12422238	Human
597083968	GWAS1180042_H	white matter hyperintensity measurement QTL GWAS1180042 (human)		0.000004	white matter hyperintensity measurement		12	12465756	12465757	Human
597082432	GWAS1178506_H	lymphocyte count QTL GWAS1178506 (human)		7e-11	lymphocyte count	blood lymphocyte count (CMO:0000031)	12	12469202	12469203	Human
597168719	GWAS1264793_H	aspartate aminotransferase measurement QTL GWAS1264793 (human)		6e-09	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	12	12362143	12362144	Human
407000090	GWAS649066_H	neuroimaging measurement QTL GWAS649066 (human)		0.000005	neuroimaging measurement		12	12391332	12391333	Human
597175232	GWAS1271306_H	acne QTL GWAS1271306 (human)		2e-13	acne		12	12451843	12451844	Human
597143630	GWAS1239704_H	Alzheimer disease, APOE carrier status QTL GWAS1239704 (human)		0.0000009	Alzheimer disease, APOE carrier status		12	12423087	12423088	Human
597061263	GWAS1157337_H	FEV/FVC ratio QTL GWAS1157337 (human)		2e-08	FEV/FVC ratio	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	12	12432447	12432448	Human
597159438	GWAS1255512_H	cholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS1255512 (human)		5e-09	blood lipid amount (VT:0003949)	blood high density lipoprotein cholesterol level (CMO:0000052)	12	12448527	12448528	Human
407078684	GWAS727660_H	lymphocyte count QTL GWAS727660 (human)		3e-14	lymphocyte count	blood lymphocyte count (CMO:0000031)	12	12368217	12368218	Human
596955445	GWAS1074964_H	lymphocyte measurement, neutrophil measurement QTL GWAS1074964 (human)		1e-12	lymphocyte measurement, neutrophil measurement		12	12368217	12368218	Human
597142449	GWAS1238523_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1238523 (human)		0.000005	severe acute respiratory syndrome, COVID-19		12	12408111	12408112	Human
597223358	GWAS1319432_H	acute respiratory distress syndrome QTL GWAS1319432 (human)		7e-08	acute respiratory distress syndrome		12	12449019	12449020	Human
597223359	GWAS1319433_H	acute respiratory distress syndrome QTL GWAS1319433 (human)		0.000004	acute respiratory distress syndrome		12	12449019	12449020	Human
597083710	GWAS1179784_H	lymphocyte percentage of leukocytes QTL GWAS1179784 (human)		9e-17	lymphocyte quantity (VT:0000717)	blood lymphocyte count to total leukocyte count ratio (CMO:0000371)	12	12368217	12368218	Human
597082431	GWAS1178505_H	lymphocyte count QTL GWAS1178505 (human)		7e-21	lymphocyte count	blood lymphocyte count (CMO:0000031)	12	12368217	12368218	Human
597083711	GWAS1179785_H	lymphocyte percentage of leukocytes QTL GWAS1179785 (human)		5e-11	lymphocyte quantity (VT:0000717)	blood lymphocyte count to total leukocyte count ratio (CMO:0000371)	12	12447146	12447147	Human
597157054	GWAS1253128_H	total cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1253128 (human)		1e-08	total cholesterol measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	12	12448527	12448528	Human
597296880	GWAS1392954_H	survival time, colorectal cancer QTL GWAS1392954 (human)		9e-09	survival time, colorectal cancer		12	12370837	12370838	Human
597102885	GWAS1198959_H	neutrophil percentage of leukocytes QTL GWAS1198959 (human)		1e-10	neutrophil quantity (VT:0000222)	blood neutrophil count to total leukocyte count ratio (CMO:0000370)	12	12447146	12447147	Human
597169322	GWAS1265396_H	acne QTL GWAS1265396 (human)		1e-14	acne		12	12459502	12459503	Human
597102884	GWAS1198958_H	neutrophil percentage of leukocytes QTL GWAS1198958 (human)		5e-14	neutrophil quantity (VT:0000222)	blood neutrophil count to total leukocyte count ratio (CMO:0000370)	12	12368217	12368218	Human
407085371	GWAS734347_H	lymphocyte percentage of leukocytes QTL GWAS734347 (human)		2e-10	lymphocyte quantity (VT:0000717)	blood lymphocyte count to total leukocyte count ratio (CMO:0000371)	12	12368217	12368218	Human
597157551	GWAS1253625_H	high density lipoprotein cholesterol measurement QTL GWAS1253625 (human)		7e-09	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	12	12448527	12448528	Human
597290658	GWAS1386732_H	lymphocyte measurement, neutrophil measurement QTL GWAS1386732 (human)		1e-12	lymphocyte measurement, neutrophil measurement		12	12368217	12368218	Human
597105067	GWAS1201141_H	aspartate aminotransferase measurement QTL GWAS1201141 (human)		2e-08	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	12	12362395	12362396	Human
597331878	GWAS1427952_H	colorectal cancer QTL GWAS1427952 (human)		0.000001	colorectal cancer		12	12424837	12424838	Human

G41292

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,579,774 - 12,579,986	UniSTS	GRCh37
Build 36	12	12,471,041 - 12,471,253	RGD	NCBI36
Celera	12	17,723,896 - 17,724,108	RGD
Cytogenetic Map	12	p12	UniSTS
HuRef	12	12,344,980 - 12,345,192	UniSTS

RH47690

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,508,397 - 12,508,546	UniSTS	GRCh37
Build 36	12	12,399,664 - 12,399,813	RGD	NCBI36
Celera	12	17,652,013 - 17,652,162	RGD
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
HuRef	12	12,273,494 - 12,273,643	UniSTS
GeneMap99-GB4 RH Map	12	45.94	UniSTS

RH92743

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,618,824 - 12,618,951	UniSTS	GRCh37
Build 36	12	12,510,091 - 12,510,218	RGD	NCBI36
Celera	12	17,762,975 - 17,763,102	RGD
Cytogenetic Map	12	p12	UniSTS
HuRef	12	12,384,065 - 12,384,192	UniSTS
GeneMap99-GB4 RH Map	12	52.28	UniSTS

G41285

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,555,137 - 12,555,263	UniSTS	GRCh37
Build 36	12	12,446,404 - 12,446,530	RGD	NCBI36
Celera	12	17,699,252 - 17,699,378	RGD
Cytogenetic Map	12	p12	UniSTS
HuRef	12	12,320,340 - 12,320,466	UniSTS

LOH12CR1__6407

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,618,480 - 12,619,387	UniSTS	GRCh37
Build 36	12	12,509,747 - 12,510,654	RGD	NCBI36
Celera	12	17,762,631 - 17,763,537	RGD
HuRef	12	12,383,721 - 12,384,627	UniSTS

G41290

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,514,703 - 12,514,870	UniSTS	GRCh37
Build 36	12	12,405,970 - 12,406,137	RGD	NCBI36
Celera	12	17,658,318 - 17,658,485	RGD
Cytogenetic Map	12	p12	UniSTS
HuRef	12	12,279,925 - 12,280,092	UniSTS

G41284

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	12,582,613 - 12,582,829	UniSTS	GRCh37
Build 36	12	12,473,880 - 12,474,096	RGD	NCBI36
Celera	12	17,726,735 - 17,726,951	RGD
Cytogenetic Map	12	p12	UniSTS
HuRef	12	12,347,814 - 12,348,030	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
1204	2439	2788	2250	4971	1726	2351	5	624	1950	465	2269	7301	6467	52	3734	1	852	1744	1617	174


RefSeq Transcripts	NM_001300742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001330356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_058169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011520551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011520553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017018778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371040	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC007619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC007621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC255400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW449789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX119133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY037865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY037866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP260903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ783014	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000298571 ⟹ ENSP00000298571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	12,357,418 - 12,465,844 (+)	Ensembl

Ensembl Acc Id:

ENST00000314565 ⟹ ENSP00000321546

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	12,357,078 - 12,471,233 (+)	Ensembl

Ensembl Acc Id:

ENST00000542728 ⟹ ENSP00000443023

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	12,357,079 - 12,465,783 (+)	Ensembl

Ensembl Acc Id:

ENST00000543990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	12,357,358 - 12,435,885 (+)	Ensembl

RefSeq Acc Id:

NM_001300742 ⟹ NP_001287671

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,078 - 12,471,233 (+)	NCBI
CHM1_1	12	12,474,994 - 12,584,853 (+)	NCBI
T2T-CHM13v2.0	12	12,226,208 - 12,340,409 (+)	NCBI

Sequence:

show sequence

ATCTGCGTCCCGGAAGGAGCGAGCTTGCGGAGCGTGAACCATGACTCCTTCACCAGCCAAGCATAGAGCCAAGATGGATGATATTGTGGTTGTAGCTCAGGGCTCCCAGGCCTCACGGAACGTCAGCA
ACGATCCCGATGTCATCAAGTTGCAAGAGATTCCAACCTTCCAGCCCCTTTTGAAAGGGCTATTGAGTGGCCAGACTTCCCCAACAAATGCCAAATTGGAGAAACTGGACTCTCAGCAGGTGTTGCAG
CTCTGCCTCCGATATCAAGATCACCTGCATCAGTGTGCAGAGGCCGTTGCTTTTGACCAGAATGCTTTGGTTAAACGAATCAAAGAGATGGATCTGTCTGTAGAAACTCTGTTCAGCTTCATGCAGGA
GCGCCAGAAAAGATACGCCAAGTATGCCGAGCAGATCCAGAAAGTGAACGAGATGTCCGCCATCCTCCGCCGCATACAGATGGGCATCGACCAGACTGTGCCCCTGCTGGACAGGCTCAACAGCATGC
TGCCCGAGGGCGAGCGGCTGGAGCCCTTCAGCATGAAGCCCGACCGCGAGCTCAGGCTGTAGCTGCTGCCCGGCCTGCCTGGGGCTGGGAGCCCCAGACACCGACACCCTGAGGACGTGTGGAGCTAA
GGTCATATCATCTGACCAGGTCTGGAGGCTGGCGGGAGGCTCCCTGAAAGTGGGTGCGAAGGAGTCCGGCTGGCATGAAAATCTGACTTTGCCCAGCTCTTTTCCTTGATGCAGTTTCCCGGTGTGGA
AGGAACCTAACCAGTTCTCGGTGATAACTGAAGCTGGAACGTGTGAATTATTAGGAATTCTTTGAAGAACTCTGCATTGAGAATTATTTTTATTTAGTTTTTTTTTTTTTTTAATTGAGAGTATATAG
TCCAGTCCAGGTACCGGAATAAAAATATGGAGACAAGGGGAAAATATTTTACGAAGCTCTGTGTTCTCAACGCCCTCATGAACTTTTCAGTAGGCTGTCTGGTTTATGTGTGGTCAACTTGAAAAACT
AATTGAATCTAGGTCTCTGTATTGTTCCTGTTTCTACCCTGACTGTTTCCGTCACACCAAGCCCTTATCTGGGGCGCGTCTTCCTGCCCAGGTGGAACACTGGCATTTTGTTGACTGTCAGGTTAGGT
GTCCCTTAGTCGTCATCAGAAGCTGAAGCCTTCCTTTCCACACCCTCATCAGATTCATCTCCACTGATAACCGGTTTCCTTGATGCAGACATAGTTTAGCTTTCTTTGACTGCAGAGATGTCTCATTC
CACAGACATTTCTTGAACCCATTTGATGTGTCCAATATTGTGCCAGGGATACAAATATGGCCGTATAGCCTCAGGCCTTCATTTCTGAAAAGAAAAAAGCTCAAAAAGCTGCTGAATTTCTCTGGGAG
TTTAGGAAAGGAAGTTATTTGAGTAACAACAAAAGTGCTTAGTGTCGTACTTTACACATCATAGGTGTTCTAATGGAAGCAAGGACTGGAGAAGCAAAGAGTGGAATGTGAGGAGCAGACCTAGGCAG
ACACCTTGAGACTAAAAGTCAGAGCTGAAGGGAGTCGCTGGGGCCAGGACGGCATGCAGGCCTGTACCCTGTTCCCTAAGTTCCTGCAAGCGTCGGGAGGTGTGTTTTCAGATACCAGAAAGAGCCTT
CAGTAGATTCACAAGATTAAAATTGATGCGCTTAATTTAATGTATCTTGGCTAAACTTGATCTGATTCTAATCTTGGTTTGAGACAGGGTCTTGTGCTGTTGCTCAGGCTGGAGTGCAGTGGCGCAAT
CATAGCACACTGACTCCTCAAACTCCCGGGCTCCGGGGATCCTCACGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCAAATCCAGCTAATTAAAAAAAATTAATTAATTTTACATT
TTCAAATTCAAAAGAATAATACAATGAATATTCATATTTCTTTCACCTAGATTGACAAAAAGTGGTATATTTAAGACATCACCATCATTGTCTTTCTTCTGGAGTATACAGAACCTGGTTCTGAACAC
AGGGATATGTTTGTAGCTTCGAGGAATGAAGGGCTGTTTACAGAGCTACAAAAATAGCTTAGGTGCCATTATCCTCACTGCACTTAATACAGGTGACACATGAAAGCACAGAGTGGGTGGCAGTTCAA
GCCTGCGAGGGCCGAGCCTTTCCACTGCTGCAGCTGTTAGTGGCTGGCACAGGGCAGGATGGCAGACCTAGTGCAGCACAAACAAACCACGCAGTCAGCCAGCTCTCCAGCCAACTGTGTCTACTTCT
AAAGTAGAAGTTAGACAAAACATGGGGTTCACTTAGACTGGGGTCCTGAGTAGGTGATAGGCTACTTATTACTGGGTGGAAGCGGAGAAGTATGGCAGAAGAACAATAGGCAAATTCAATACTCCCGG
AAAGAATTCTAGTTAGTTTAATATTTTGATGGCATGTTGTGGTTTCTGCAGTGTCGTGAACTTGGCTAAACTGAACTGTGTTCCCAGAATTCCCTTCCTTGTTTGTTTCTCTGGTGAGGGTTGGCCAC
GAGAGAGATTTGCATGAGGTTTGGAAGTGGAAGTAGAGCAACAGCCATGTGTATTCACTGGAAGTGGATGTAGGTCAGGCCCTGTTCCATCACGTGCACGTTACCATGGATCTCCTGCACTTGTGGTG
TGGGCAGCCGCTGGGCCCACGGCTCCTCCCACTCCCGCAGAACTCTGCCTTTGGCTTTTCCAGACCCTGGGCCGGGTATGAGAACCAGCTTCTTGGTCTGCAGCCACAAGGATGAAGGTTTGGGGATG
AGAGACCAGCACGGGCTCTGATGAGAGACAGGTGCAGGTCCCAGCTTGTGGCTTGCAGGTCTCAGTCGTACTTGCTCTCCCTCACCATCCTTTCCAACCGCCTGGCCTGTGGTCTGGTGAAGAAGAAA
CAGCCGAACCGAGACTTTCACCAGCCCCTCTAATTGCTCAAACCGCTTTCACAATCCTCTCTTTCTACATCATTCCTAGTGGTTCTTTTCTGATGGAACCTCTGACTGGTAACATGGCATTACCAGTC
CTTTCCCTCTCATGTTTTGCTATTTCCTGATGGAACCTGGGAGTCTGAGTGATTTGTATTTCAAGAAGCAGTTATGCTGGATCTCTTTGTTGGTTAATACCCCATGACCTATCTGGCCGTTATGGGAT
ATTTCAGGGATAGGAGTTGTGAAAGAGCCCTTGGCTGGACGTTTCTAGCCTTAATCTTTGGCAAGCCATTTCATTTCCCTGAGCCTCAGTTTCCGCCTTCCTACAGCGTGAGCAGGTCTGGGTGGGCT
CTCAAGCCCCTTTCAGCTCTAAGATTCCAAGTCTGTGATTCCGATACATCTTGACTACAATGAGCGTGTTTACCTTTTGTCTCTGAGCAGTGGCCCTGGGTCTTGGTAGTGACTAAATTCCGAGCTCC
CAAGGTGCAGCTGCTTTTCTTCCTTTTAATTATAAATTAGCTGTTCATTGGCTGCTTCTTTCTAGAGCCTGTTTTGCTTATCTTGCAATCTGTTCATTTCTGTTGATGAACACAGTCAAATAGGCCTC
TATGTGCAGTCTCCTGGTTTCCCTGGTCAAAGTGGAAGGTTGGTAGAAACTGGCCTTCATGTCTTTGTTTCCCTCAAAGTTTTATTCTTAGTAACGCTATATATGGTTTTATAGACCACACATATATA
GTTTCCTGTGTCTTAGATGATAACATCCTTAAAATATGAAATATATTTTGAACCTAGATACCTACCCAGTATTCTCTGCACAGAGTAAACATTTCATTAAATGAGTTTCAAGGACTCCATACCCTGAT
ATAGGAGTACATTCAAGAAATGAGTTTAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACAT
GGTGAAACCCCATCTCTACTAAAAAAAATACAGAAATTACCCGGGCATGGTGGCTGGTGCCTGTAATCCCCGCTACTTGGGAGGCCAAGGTGGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAG
TGAGCCAAGTTCGTGCCATTGCACTCTGGCCTGGGTAACAAGAGTGAAACTCCGTTTAGAAATGAGTTTAGTCTGGGAGAATCTGCTTTTTGAGTAAAAAAGTTTGATTTTATGTATGTGTGCGTCTG
TATATATGTTTCTGTATCCTGAGTATTTCTTTGCGGCTTCTTCAGTTATGAAAGAGGTTGGTACTGTTACCCTTACGTTATAGGTATTACAAACTCGGTTTTACAAGGTTACATAAACTAATGGCCCT
GGGGCGAATGACGTATGCCACTTTTGTGTTGATTTGTAGAACTTACTTAGCTTTGGCATTTCCCCTAGTAATTCCCAAGGCAAAACCAGGAATTGTCAGAGACGTGACCAGACATGTATTAAAATTCT
AGTGCAATTGGGAAACTTGGTCTTCCTGATTTGTTTATACTTCAGCCAAACCCAGATATATAGTGCTCAGCAGAAATTATTCAAAATGTTGATACTCAAGATTGAAGGATGGATTAGGGAGAAATGAA
AACTTTTCTTCTTGTGGACTTTTTAGGTATGAAATTTAATCACGAGAGTAGTTTTGCTTTTCTTTCCCTGACCTTTCGCTTCATTCCTTTGTTAAGAACTATATAGTGCCTCTGAGGAGGTGGCATTA
TTGTTCACTAACTTACCATAAATCAGGGGTCTCCAAACCCCAGGCCACAGACTGGTACCCATCTGTGGCGTGTGAGGAAGTGTGCTGCACAGCAGGAGGTGAGCGGCGGATGAGCAGGTGAAGCTTCA
CGTGTTGTTGTTGTTGTTTATTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTATACTGTCTCAGCCTCC
CGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCGTGATCTGCCCGACTTGGC
CTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCTTCGTGTGTATTTATAGCTGCTCCCCATCACTCACATCACTGCCTGAGCTCCACCTCCTGTCAGAACAGACCCAGCATTA
GACTCCCCTAAGAGCGTGAACCCTATTGTGAACTGCGCACGTGAAGGATCTAGGTTTTGCGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGATGGAACGGTTTCATCCAGAAACCATCCCCCTG
CTTCCCTGTCTGTAGAAAAATTGTCTTCTATGAAATGGGTCCCTGGTGCCAGAAAGGTTGGGGACTGCTGTCATAAATAACATTGAATTTCATGTGGGTTTTTTTTTTTTGACACACCAGGCATGTCT
CTTCCATTCAAATGCTATGGCTACAGAGGGAAAGGGTAGCCAGATAATTATCCACATGCTTCAAACCAAAAAGATAAAAAAGTTGGCAACTAGATCTAGTTGCCTGCCAGGATGACCAGCGTTATGCT
GGTGTGTGCGTGTCCATGCCTCCGGGATTTTTCCAGGGTTATCAATGTCAGTGTAAGATCTGATGGAATTTACCGTTGACTCAATTTTCTTCACCAATCAAGGCTCATTCCTTGAGGCATGAGTTATG
CGAAAAGCTTTTCTGCACCAAGTACTTTCATTCTGGTCTTTGGAATTGTCATAATTCTGACAGAGAACACAGACCATTACTGAATGCTCTTCAGGTTACCCTATTTGCCTGTCACATTGCTTCTACCG
GCCACATCCTGCATTTCCTGTGGGACAGCATTTTCAAACGGATTCTAGTGTTTGAGCTGGAACCAAAAGAATGAAACTGTTTTTACATAAGTGCATATTGCTGTCTCTGCAAATAAAGTACAACAATA
TGACTGACTTGTAAA

hide sequence

RefSeq Acc Id:

NM_001330356 ⟹ NP_001317285

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,078 - 12,471,233 (+)	NCBI
T2T-CHM13v2.0	12	12,226,208 - 12,340,409 (+)	NCBI

Sequence:

show sequence

ATCTGCGTCCCGGAAGGAGCGAGCTTGCGGAGCGTGAACCAGTGAGTGAAAGCGGCGCCGCCCG
CCGGCCGCAGGTGCGGCAAAGCCAGTGTCATCTGCCGGTTCTCTTAGGGCTCCCGGAAAGAAGGAGGGCTAGCCGCGTGCGTTCGCGCCGCGCCTCCTTGCGTTTCTGTTCCCCAAATAGGGCCTCTC
CTTCTCCCGCCGCCCAGGCCCCTGCGTGGGCTGGACGCGTCAGCCCCACACATTAGCCTCGCTGCGGCGCCCAGACTCTGCTTTGCCTCCCCGTCCCGGTCCCTGGCCCCTGCCCTGTCGCCCGCCGC
CGGAGCGGTGACCGCCCGGCCCGCCGTTCTTCTGCTGCCACCGCTGTCGGCACCATGGGCAGTGAGCAGAGCTCCGAGGCCGAGAGCCGACCCAACGATCTGAACTCCTCAGGGCTATTGAGTGGCCA
GACTTCCCCAACAAATGCCAAATTGGAGAAACTGGACTCTCAGCAGGTGTTGCAGCTCTGCCTCCGATATCAAGATCACCTGCATCAGTGTGCAGAGGCCGTTGCTTTTGACCAGAATGCTTTGGTTA
AACGAATCAAAGAGATGGATCTGTCTGTAGAAACTCTGTTCAGCTTCATGCAGGAGCGCCAGAAAAGATACGCCAAGTATGCCGAGCAGATCCAGAAAGTGAACGAGATGTCCGCCATCCTCCGCCGC
ATACAGATGGGCATCGACCAGACTGTGCCCCTGCTGGACAGGCTCAACAGCATGCTGCCCGAGGGCGAGCGGCTGGAGCCCTTCAGCATGAAGCCCGACCGCGAGCTCAGGCTGTAGCTGCTGCCCGG
CCTGCCTGGGGCTGGGAGCCCCAGACACCGACACCCTGAGGACGTGTGGAGCTAAGGTCATATCATCTGACCAGGTCTGGAGGCTGGCGGGAGGCTCCCTGAAAGTGGGTGCGAAGGAGTCCGGCTGG
CATGAAAATCTGACTTTGCCCAGCTCTTTTCCTTGATGCAGTTTCCCGGTGTGGAAGGAACCTAACCAGTTCTCGGTGATAACTGAAGCTGGAACGTGTGAATTATTAGGAATTCTTTGAAGAACTCT
GCATTGAGAATTATTTTTATTTAGTTTTTTTTTTTTTTTAATTGAGAGTATATAGTCCAGTCCAGGTACCGGAATAAAAATATGGAGACAAGGGGAAAATATTTTACGAAGCTCTGTGTTCTCAACGC
CCTCATGAACTTTTCAGTAGGCTGTCTGGTTTATGTGTGGTCAACTTGAAAAACTAATTGAATCTAGGTCTCTGTATTGTTCCTGTTTCTACCCTGACTGTTTCCGTCACACCAAGCCCTTATCTGGG
GCGCGTCTTCCTGCCCAGGTGGAACACTGGCATTTTGTTGACTGTCAGGTTAGGTGTCCCTTAGTCGTCATCAGAAGCTGAAGCCTTCCTTTCCACACCCTCATCAGATTCATCTCCACTGATAACCG
GTTTCCTTGATGCAGACATAGTTTAGCTTTCTTTGACTGCAGAGATGTCTCATTCCACAGACATTTCTTGAACCCATTTGATGTGTCCAATATTGTGCCAGGGATACAAATATGGCCGTATAGCCTCA
GGCCTTCATTTCTGAAAAGAAAAAAGCTCAAAAAGCTGCTGAATTTCTCTGGGAGTTTAGGAAAGGAAGTTATTTGAGTAACAACAAAAGTGCTTAGTGTCGTACTTTACACATCATAGGTGTTCTAA
TGGAAGCAAGGACTGGAGAAGCAAAGAGTGGAATGTGAGGAGCAGACCTAGGCAGACACCTTGAGACTAAAAGTCAGAGCTGAAGGGAGTCGCTGGGGCCAGGACGGCATGCAGGCCTGTACCCTGTT
CCCTAAGTTCCTGCAAGCGTCGGGAGGTGTGTTTTCAGATACCAGAAAGAGCCTTCAGTAGATTCACAAGATTAAAATTGATGCGCTTAATTTAATGTATCTTGGCTAAACTTGATCTGATTCTAATC
TTGGTTTGAGACAGGGTCTTGTGCTGTTGCTCAGGCTGGAGTGCAGTGGCGCAATCATAGCACACTGACTCCTCAAACTCCCGGGCTCCGGGGATCCTCACGCCTCAGACTCCTGAGTAGCTGGGATT
ACAGGTGTGTGCCACCAAATCCAGCTAATTAAAAAAAATTAATTAATTTTACATTTTCAAATTCAAAAGAATAATACAATGAATATTCATATTTCTTTCACCTAGATTGACAAAAAGTGGTATATTTA
AGACATCACCATCATTGTCTTTCTTCTGGAGTATACAGAACCTGGTTCTGAACACAGGGATATGTTTGTAGCTTCGAGGAATGAAGGGCTGTTTACAGAGCTACAAAAATAGCTTAGGTGCCATTATC
CTCACTGCACTTAATACAGGTGACACATGAAAGCACAGAGTGGGTGGCAGTTCAAGCCTGCGAGGGCCGAGCCTTTCCACTGCTGCAGCTGTTAGTGGCTGGCACAGGGCAGGATGGCAGACCTAGTG
CAGCACAAACAAACCACGCAGTCAGCCAGCTCTCCAGCCAACTGTGTCTACTTCTAAAGTAGAAGTTAGACAAAACATGGGGTTCACTTAGACTGGGGTCCTGAGTAGGTGATAGGCTACTTATTACT
GGGTGGAAGCGGAGAAGTATGGCAGAAGAACAATAGGCAAATTCAATACTCCCGGAAAGAATTCTAGTTAGTTTAATATTTTGATGGCATGTTGTGGTTTCTGCAGTGTCGTGAACTTGGCTAAACTG
AACTGTGTTCCCAGAATTCCCTTCCTTGTTTGTTTCTCTGGTGAGGGTTGGCCACGAGAGAGATTTGCATGAGGTTTGGAAGTGGAAGTAGAGCAACAGCCATGTGTATTCACTGGAAGTGGATGTAG
GTCAGGCCCTGTTCCATCACGTGCACGTTACCATGGATCTCCTGCACTTGTGGTGTGGGCAGCCGCTGGGCCCACGGCTCCTCCCACTCCCGCAGAACTCTGCCTTTGGCTTTTCCAGACCCTGGGCC
GGGTATGAGAACCAGCTTCTTGGTCTGCAGCCACAAGGATGAAGGTTTGGGGATGAGAGACCAGCACGGGCTCTGATGAGAGACAGGTGCAGGTCCCAGCTTGTGGCTTGCAGGTCTCAGTCGTACTT
GCTCTCCCTCACCATCCTTTCCAACCGCCTGGCCTGTGGTCTGGTGAAGAAGAAACAGCCGAACCGAGACTTTCACCAGCCCCTCTAATTGCTCAAACCGCTTTCACAATCCTCTCTTTCTACATCAT
TCCTAGTGGTTCTTTTCTGATGGAACCTCTGACTGGTAACATGGCATTACCAGTCCTTTCCCTCTCATGTTTTGCTATTTCCTGATGGAACCTGGGAGTCTGAGTGATTTGTATTTCAAGAAGCAGTT
ATGCTGGATCTCTTTGTTGGTTAATACCCCATGACCTATCTGGCCGTTATGGGATATTTCAGGGATAGGAGTTGTGAAAGAGCCCTTGGCTGGACGTTTCTAGCCTTAATCTTTGGCAAGCCATTTCA
TTTCCCTGAGCCTCAGTTTCCGCCTTCCTACAGCGTGAGCAGGTCTGGGTGGGCTCTCAAGCCCCTTTCAGCTCTAAGATTCCAAGTCTGTGATTCCGATACATCTTGACTACAATGAGCGTGTTTAC
CTTTTGTCTCTGAGCAGTGGCCCTGGGTCTTGGTAGTGACTAAATTCCGAGCTCCCAAGGTGCAGCTGCTTTTCTTCCTTTTAATTATAAATTAGCTGTTCATTGGCTGCTTCTTTCTAGAGCCTGTT
TTGCTTATCTTGCAATCTGTTCATTTCTGTTGATGAACACAGTCAAATAGGCCTCTATGTGCAGTCTCCTGGTTTCCCTGGTCAAAGTGGAAGGTTGGTAGAAACTGGCCTTCATGTCTTTGTTTCCC
TCAAAGTTTTATTCTTAGTAACGCTATATATGGTTTTATAGACCACACATATATAGTTTCCTGTGTCTTAGATGATAACATCCTTAAAATATGAAATATATTTTGAACCTAGATACCTACCCAGTATT
CTCTGCACAGAGTAAACATTTCATTAAATGAGTTTCAAGGACTCCATACCCTGATATAGGAGTACATTCAAGAAATGAGTTTAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG
GCCGAGACGAGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAAATACAGAAATTACCCGGGCATGGTGGCTGGTGCCTGTAATCCCCGC
TACTTGGGAGGCCAAGGTGGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGTTCGTGCCATTGCACTCTGGCCTGGGTAACAAGAGTGAAACTCCGTTTAGAAATGAGTTTAGTC
TGGGAGAATCTGCTTTTTGAGTAAAAAAGTTTGATTTTATGTATGTGTGCGTCTGTATATATGTTTCTGTATCCTGAGTATTTCTTTGCGGCTTCTTCAGTTATGAAAGAGGTTGGTACTGTTACCCT
TACGTTATAGGTATTACAAACTCGGTTTTACAAGGTTACATAAACTAATGGCCCTGGGGCGAATGACGTATGCCACTTTTGTGTTGATTTGTAGAACTTACTTAGCTTTGGCATTTCCCCTAGTAATT
CCCAAGGCAAAACCAGGAATTGTCAGAGACGTGACCAGACATGTATTAAAATTCTAGTGCAATTGGGAAACTTGGTCTTCCTGATTTGTTTATACTTCAGCCAAACCCAGATATATAGTGCTCAGCAG
AAATTATTCAAAATGTTGATACTCAAGATTGAAGGATGGATTAGGGAGAAATGAAAACTTTTCTTCTTGTGGACTTTTTAGGTATGAAATTTAATCACGAGAGTAGTTTTGCTTTTCTTTCCCTGACC
TTTCGCTTCATTCCTTTGTTAAGAACTATATAGTGCCTCTGAGGAGGTGGCATTATTGTTCACTAACTTACCATAAATCAGGGGTCTCCAAACCCCAGGCCACAGACTGGTACCCATCTGTGGCGTGT
GAGGAAGTGTGCTGCACAGCAGGAGGTGAGCGGCGGATGAGCAGGTGAAGCTTCACGTGTTGTTGTTGTTGTTTATTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTC
GGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTATACTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTATTTTTAGTAGAGATGGGGTTTCA
CCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCGTGATCTGCCCGACTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCTTCGTGTGTATTTATAGCTGCTCCC
CATCACTCACATCACTGCCTGAGCTCCACCTCCTGTCAGAACAGACCCAGCATTAGACTCCCCTAAGAGCGTGAACCCTATTGTGAACTGCGCACGTGAAGGATCTAGGTTTTGCGCTCCTTATGAGA
ATCTAATGCCTGATGATCTGAGATGGAACGGTTTCATCCAGAAACCATCCCCCTGCTTCCCTGTCTGTAGAAAAATTGTCTTCTATGAAATGGGTCCCTGGTGCCAGAAAGGTTGGGGACTGCTGTCA
TAAATAACATTGAATTTCATGTGGGTTTTTTTTTTTTGACACACCAGGCATGTCTCTTCCATTCAAATGCTATGGCTACAGAGGGAAAGGGTAGCCAGATAATTATCCACATGCTTCAAACCAAAAAG
ATAAAAAAGTTGGCAACTAGATCTAGTTGCCTGCCAGGATGACCAGCGTTATGCTGGTGTGTGCGTGTCCATGCCTCCGGGATTTTTCCAGGGTTATCAATGTCAGTGTAAGATCTGATGGAATTTAC
CGTTGACTCAATTTTCTTCACCAATCAAGGCTCATTCCTTGAGGCATGAGTTATGCGAAAAGCTTTTCTGCACCAAGTACTTTCATTCTGGTCTTTGGAATTGTCATAATTCTGACAGAGAACACAGA
CCATTACTGAATGCTCTTCAGGTTACCCTATTTGCCTGTCACATTGCTTCTACCGGCCACATCCTGCATTTCCTGTGGGACAGCATTTTCAAACGGATTCTAGTGTTTGAGCTGGAACCAAAAGAATG
AAACTGTTTTTACATAAGTGCATATTGCTGTCTCTGCAAATAAAGTACAACAATATGACTGACTTGTAAA

hide sequence

RefSeq Acc Id:

NM_058169 ⟹ NP_477517

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,078 - 12,471,233 (+)	NCBI
GRCh37	12	12,509,967 - 12,637,587 (+)	NCBI
Build 36	12	12,401,322 - 12,511,105 (+)	NCBI Archive
Celera	12	17,653,635 - 17,763,988 (+)	RGD
HuRef	12	12,275,116 - 12,385,078 (+)	RGD
CHM1_1	12	12,474,994 - 12,584,853 (+)	NCBI
T2T-CHM13v2.0	12	12,226,208 - 12,340,409 (+)	NCBI

Sequence:

show sequence

ATCTGCGTCCCGGAAGGAGCGAGCTTGCGGAGCGTGAACCAGTGAGTGAAAGCGGCGCCGCCCGCCGGCCGCAGGTGCGGCAAAGCCAGTGTCATCTGCCGGTTCTCTTAGGGCTCCCGGAAAGAAGG
AGGGCTAGCCGCGTGCGTTCGCGCCGCGCCTCCTTGCGTTTCTGTTCCCCAAATAGGGCCTCTCCTTCTCCCGCCGCCCAGGCCCCTGCGTGGGCTGGACGCGTCAGCCCCACACATTAGCCTCGCTG
CGGCGCCCAGACTCTGCTTTGCCTCCCCGTCCCGGTCCCTGGCCCCTGCCCTGTCGCCCGCCGCCGGAGCGGTGACCGCCCGGCCCGCCGTTCTTCTGCTGCCACCGCTGTCGGCACCATGGGCAGTG
AGCAGAGCTCCGAGGCCGAGAGCCGACCCAACGATCTGAACTCCTCAGTGACTCCTTCACCAGCCAAGCATAGAGCCAAGATGGATGATATTGTGGTTGTAGCTCAGGGCTCCCAGGCCTCACGGAAC
GTCAGCAACGATCCCGATGTCATCAAGTTGCAAGAGATTCCAACCTTCCAGCCCCTTTTGAAAGGGCTATTGAGTGGCCAGACTTCCCCAACAAATGCCAAATTGGAGAAACTGGACTCTCAGCAGGT
GTTGCAGCTCTGCCTCCGATATCAAGATCACCTGCATCAGTGTGCAGAGGCCGTTGCTTTTGACCAGAATGCTTTGGTTAAACGAATCAAAGAGATGGATCTGTCTGTAGAAACTCTGTTCAGCTTCA
TGCAGGAGCGCCAGAAAAGATACGCCAAGTATGCCGAGCAGATCCAGAAAGTGAACGAGATGTCCGCCATCCTCCGCCGCATACAGATGGGCATCGACCAGACTGTGCCCCTGCTGGACAGGCTCAAC
AGCATGCTGCCCGAGGGCGAGCGGCTGGAGCCCTTCAGCATGAAGCCCGACCGCGAGCTCAGGCTGTAGCTGCTGCCCGGCCTGCCTGGGGCTGGGAGCCCCAGACACCGACACCCTGAGGACGTGTG
GAGCTAAGGTCATATCATCTGACCAGGTCTGGAGGCTGGCGGGAGGCTCCCTGAAAGTGGGTGCGAAGGAGTCCGGCTGGCATGAAAATCTGACTTTGCCCAGCTCTTTTCCTTGATGCAGTTTCCCG
GTGTGGAAGGAACCTAACCAGTTCTCGGTGATAACTGAAGCTGGAACGTGTGAATTATTAGGAATTCTTTGAAGAACTCTGCATTGAGAATTATTTTTATTTAGTTTTTTTTTTTTTTTAATTGAGAG
TATATAGTCCAGTCCAGGTACCGGAATAAAAATATGGAGACAAGGGGAAAATATTTTACGAAGCTCTGTGTTCTCAACGCCCTCATGAACTTTTCAGTAGGCTGTCTGGTTTATGTGTGGTCAACTTG
AAAAACTAATTGAATCTAGGTCTCTGTATTGTTCCTGTTTCTACCCTGACTGTTTCCGTCACACCAAGCCCTTATCTGGGGCGCGTCTTCCTGCCCAGGTGGAACACTGGCATTTTGTTGACTGTCAG
GTTAGGTGTCCCTTAGTCGTCATCAGAAGCTGAAGCCTTCCTTTCCACACCCTCATCAGATTCATCTCCACTGATAACCGGTTTCCTTGATGCAGACATAGTTTAGCTTTCTTTGACTGCAGAGATGT
CTCATTCCACAGACATTTCTTGAACCCATTTGATGTGTCCAATATTGTGCCAGGGATACAAATATGGCCGTATAGCCTCAGGCCTTCATTTCTGAAAAGAAAAAAGCTCAAAAAGCTGCTGAATTTCT
CTGGGAGTTTAGGAAAGGAAGTTATTTGAGTAACAACAAAAGTGCTTAGTGTCGTACTTTACACATCATAGGTGTTCTAATGGAAGCAAGGACTGGAGAAGCAAAGAGTGGAATGTGAGGAGCAGACC
TAGGCAGACACCTTGAGACTAAAAGTCAGAGCTGAAGGGAGTCGCTGGGGCCAGGACGGCATGCAGGCCTGTACCCTGTTCCCTAAGTTCCTGCAAGCGTCGGGAGGTGTGTTTTCAGATACCAGAAA
GAGCCTTCAGTAGATTCACAAGATTAAAATTGATGCGCTTAATTTAATGTATCTTGGCTAAACTTGATCTGATTCTAATCTTGGTTTGAGACAGGGTCTTGTGCTGTTGCTCAGGCTGGAGTGCAGTG
GCGCAATCATAGCACACTGACTCCTCAAACTCCCGGGCTCCGGGGATCCTCACGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCAAATCCAGCTAATTAAAAAAAATTAATTAATT
TTACATTTTCAAATTCAAAAGAATAATACAATGAATATTCATATTTCTTTCACCTAGATTGACAAAAAGTGGTATATTTAAGACATCACCATCATTGTCTTTCTTCTGGAGTATACAGAACCTGGTTC
TGAACACAGGGATATGTTTGTAGCTTCGAGGAATGAAGGGCTGTTTACAGAGCTACAAAAATAGCTTAGGTGCCATTATCCTCACTGCACTTAATACAGGTGACACATGAAAGCACAGAGTGGGTGGC
AGTTCAAGCCTGCGAGGGCCGAGCCTTTCCACTGCTGCAGCTGTTAGTGGCTGGCACAGGGCAGGATGGCAGACCTAGTGCAGCACAAACAAACCACGCAGTCAGCCAGCTCTCCAGCCAACTGTGTC
TACTTCTAAAGTAGAAGTTAGACAAAACATGGGGTTCACTTAGACTGGGGTCCTGAGTAGGTGATAGGCTACTTATTACTGGGTGGAAGCGGAGAAGTATGGCAGAAGAACAATAGGCAAATTCAATA
CTCCCGGAAAGAATTCTAGTTAGTTTAATATTTTGATGGCATGTTGTGGTTTCTGCAGTGTCGTGAACTTGGCTAAACTGAACTGTGTTCCCAGAATTCCCTTCCTTGTTTGTTTCTCTGGTGAGGGT
TGGCCACGAGAGAGATTTGCATGAGGTTTGGAAGTGGAAGTAGAGCAACAGCCATGTGTATTCACTGGAAGTGGATGTAGGTCAGGCCCTGTTCCATCACGTGCACGTTACCATGGATCTCCTGCACT
TGTGGTGTGGGCAGCCGCTGGGCCCACGGCTCCTCCCACTCCCGCAGAACTCTGCCTTTGGCTTTTCCAGACCCTGGGCCGGGTATGAGAACCAGCTTCTTGGTCTGCAGCCACAAGGATGAAGGTTT
GGGGATGAGAGACCAGCACGGGCTCTGATGAGAGACAGGTGCAGGTCCCAGCTTGTGGCTTGCAGGTCTCAGTCGTACTTGCTCTCCCTCACCATCCTTTCCAACCGCCTGGCCTGTGGTCTGGTGAA
GAAGAAACAGCCGAACCGAGACTTTCACCAGCCCCTCTAATTGCTCAAACCGCTTTCACAATCCTCTCTTTCTACATCATTCCTAGTGGTTCTTTTCTGATGGAACCTCTGACTGGTAACATGGCATT
ACCAGTCCTTTCCCTCTCATGTTTTGCTATTTCCTGATGGAACCTGGGAGTCTGAGTGATTTGTATTTCAAGAAGCAGTTATGCTGGATCTCTTTGTTGGTTAATACCCCATGACCTATCTGGCCGTT
ATGGGATATTTCAGGGATAGGAGTTGTGAAAGAGCCCTTGGCTGGACGTTTCTAGCCTTAATCTTTGGCAAGCCATTTCATTTCCCTGAGCCTCAGTTTCCGCCTTCCTACAGCGTGAGCAGGTCTGG
GTGGGCTCTCAAGCCCCTTTCAGCTCTAAGATTCCAAGTCTGTGATTCCGATACATCTTGACTACAATGAGCGTGTTTACCTTTTGTCTCTGAGCAGTGGCCCTGGGTCTTGGTAGTGACTAAATTCC
GAGCTCCCAAGGTGCAGCTGCTTTTCTTCCTTTTAATTATAAATTAGCTGTTCATTGGCTGCTTCTTTCTAGAGCCTGTTTTGCTTATCTTGCAATCTGTTCATTTCTGTTGATGAACACAGTCAAAT
AGGCCTCTATGTGCAGTCTCCTGGTTTCCCTGGTCAAAGTGGAAGGTTGGTAGAAACTGGCCTTCATGTCTTTGTTTCCCTCAAAGTTTTATTCTTAGTAACGCTATATATGGTTTTATAGACCACAC
ATATATAGTTTCCTGTGTCTTAGATGATAACATCCTTAAAATATGAAATATATTTTGAACCTAGATACCTACCCAGTATTCTCTGCACAGAGTAAACATTTCATTAAATGAGTTTCAAGGACTCCATA
CCCTGATATAGGAGTACATTCAAGAAATGAGTTTAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGA
CCAACATGGTGAAACCCCATCTCTACTAAAAAAAATACAGAAATTACCCGGGCATGGTGGCTGGTGCCTGTAATCCCCGCTACTTGGGAGGCCAAGGTGGGAGAATCGCTTGAACCTGGGAGGCGGAG
GTTGCAGTGAGCCAAGTTCGTGCCATTGCACTCTGGCCTGGGTAACAAGAGTGAAACTCCGTTTAGAAATGAGTTTAGTCTGGGAGAATCTGCTTTTTGAGTAAAAAAGTTTGATTTTATGTATGTGT
GCGTCTGTATATATGTTTCTGTATCCTGAGTATTTCTTTGCGGCTTCTTCAGTTATGAAAGAGGTTGGTACTGTTACCCTTACGTTATAGGTATTACAAACTCGGTTTTACAAGGTTACATAAACTAA
TGGCCCTGGGGCGAATGACGTATGCCACTTTTGTGTTGATTTGTAGAACTTACTTAGCTTTGGCATTTCCCCTAGTAATTCCCAAGGCAAAACCAGGAATTGTCAGAGACGTGACCAGACATGTATTA
AAATTCTAGTGCAATTGGGAAACTTGGTCTTCCTGATTTGTTTATACTTCAGCCAAACCCAGATATATAGTGCTCAGCAGAAATTATTCAAAATGTTGATACTCAAGATTGAAGGATGGATTAGGGAG
AAATGAAAACTTTTCTTCTTGTGGACTTTTTAGGTATGAAATTTAATCACGAGAGTAGTTTTGCTTTTCTTTCCCTGACCTTTCGCTTCATTCCTTTGTTAAGAACTATATAGTGCCTCTGAGGAGGT
GGCATTATTGTTCACTAACTTACCATAAATCAGGGGTCTCCAAACCCCAGGCCACAGACTGGTACCCATCTGTGGCGTGTGAGGAAGTGTGCTGCACAGCAGGAGGTGAGCGGCGGATGAGCAGGTGA
AGCTTCACGTGTTGTTGTTGTTGTTTATTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTATACTGTCTC
AGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCGTGATCTGCCCG
ACTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGCTTCGTGTGTATTTATAGCTGCTCCCCATCACTCACATCACTGCCTGAGCTCCACCTCCTGTCAGAACAGACCC
AGCATTAGACTCCCCTAAGAGCGTGAACCCTATTGTGAACTGCGCACGTGAAGGATCTAGGTTTTGCGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGATGGAACGGTTTCATCCAGAAACCAT
CCCCCTGCTTCCCTGTCTGTAGAAAAATTGTCTTCTATGAAATGGGTCCCTGGTGCCAGAAAGGTTGGGGACTGCTGTCATAAATAACATTGAATTTCATGTGGGTTTTTTTTTTTTGACACACCAGG
CATGTCTCTTCCATTCAAATGCTATGGCTACAGAGGGAAAGGGTAGCCAGATAATTATCCACATGCTTCAAACCAAAAAGATAAAAAAGTTGGCAACTAGATCTAGTTGCCTGCCAGGATGACCAGCG
TTATGCTGGTGTGTGCGTGTCCATGCCTCCGGGATTTTTCCAGGGTTATCAATGTCAGTGTAAGATCTGATGGAATTTACCGTTGACTCAATTTTCTTCACCAATCAAGGCTCATTCCTTGAGGCATG
AGTTATGCGAAAAGCTTTTCTGCACCAAGTACTTTCATTCTGGTCTTTGGAATTGTCATAATTCTGACAGAGAACACAGACCATTACTGAATGCTCTTCAGGTTACCCTATTTGCCTGTCACATTGCT
TCTACCGGCCACATCCTGCATTTCCTGTGGGACAGCATTTTCAAACGGATTCTAGTGTTTGAGCTGGAACCAAAAGAATGAAACTGTTTTTACATAAGTGCATATTGCTGTCTCTGCAAATAAAGTAC
AACAATATGACTGACTTGTAAA

hide sequence

RefSeq Acc Id:

XM_011520551 ⟹ XP_011518853

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,078 - 12,471,233 (+)	NCBI

Sequence:

show sequence

ATCTGCGTCCCGGAAGGAGCGAGCTTGCGGAGCGTGAACCAGTGAGTGAAAGCGGCGCCGCCCG
CCGGCCGCAGTGACTCCTTCACCAGCCAAGCATAGAGCCAAGATGGATGATATTGTGGTTGTAGCTCAGGGCTCCCAGGCCTCACGGAACGTCAGCAACGATCCCGATGTCATCAAGTTGCAAGAGAT
TCCAACCTTCCAGCCCCTTTTGAAAGGGCTATTGAGTGGCCAGACTTCCCCAACAAATGCCAAATTGGAGAAACTGGACTCTCAGCAGGTGTTGCAGCTCTGCCTCCGATATCAAGATCACCTGCATC
AGTGTGCAGAGGCCGTTGCTTTTGACCAGAATGCTTTGGTTAAACGAATCAAAGAGATGGATCTGTCTGTAGAAACTCTGTTCAGCTTCATGCAGGAGCGCCAGAAAAGATACGCCAAGTATGCCGAG
CAGATCCAGAAAGTGAACGAGATGTCCGCCATCCTCCGCCGCATACAGATGGGCATCGACCAGACTGTGCCCCTGCTGGACAGGCTCAACAGCATGCTGCCCGAGGGCGAGCGGCTGGAGCCCTTCAG
CATGAAGCCCGACCGCGAGCTCAGGCTGTAGCTGCTGCCCGGCCTGCCTGGGGCTGGGAGCCCCAGACACCGACACCCTGAGGACGTGTGGAGCTAAGGTCATATCATCTGACCAGGTCTGGAGGCTG
GCGGGAGGCTCCCTGAAAGTGGGTGCGAAGGAGTCCGGCTGGCATGAAAATCTGACTTTGCCCAGCTCTTTTCCTTGATGCAGTTTCCCGGTGTGGAAGGAACCTAACCAGTTCTCGGTGATAACTGA
AGCTGGAACGTGTGAATTATTAGGAATTCTTTGAAGAACTCTGCATTGAGAATTATTTTTATTTAGTTTTTTTTTTTTTTTAATTGAGAGTATATAGTCCAGTCCAGGTACCGGAATAAAAATATGGA
GACAAGGGGAAAATATTTTACGAAGCTCTGTGTTCTCAACGCCCTCATGAACTTTTCAGTAGGCTGTCTGGTTTATGTGTGGTCAACTTGAAAAACTAATTGAATCTAGGTCTCTGTATTGTTCCTGT
TTCTACCCTGACTGTTTCCGTCACACCAAGCCCTTATCTGGGGCGCGTCTTCCTGCCCAGGTGGAACACTGGCATTTTGTTGACTGTCAGGTTAGGTGTCCCTTAGTCGTCATCAGAAGCTGAAGCCT
TCCTTTCCACACCCTCATCAGATTCATCTCCACTGATAACCGGTTTCCTTGATGCAGACATAGTTTAGCTTTCTTTGACTGCAGAGATGTCTCATTCCACAGACATTTCTTGAACCCATTTGATGTGT
CCAATATTGTGCCAGGGATACAAATATGGCCGTATAGCCTCAGGCCTTCATTTCTGAAAAGAAAAAAGCTCAAAAAGCTGCTGAATTTCTCTGGGAGTTTAGGAAAGGAAGTTATTTGAGTAACAACA
AAAGTGCTTAGTGTCGTACTTTACACATCATAGGTGTTCTAATGGAAGCAAGGACTGGAGAAGCAAAGAGTGGAATGTGAGGAGCAGACCTAGGCAGACACCTTGAGACTAAAAGTCAGAGCTGAAGG
GAGTCGCTGGGGCCAGGACGGCATGCAGGCCTGTACCCTGTTCCCTAAGTTCCTGCAAGCGTCGGGAGGTGTGTTTTCAGATACCAGAAAGAGCCTTCAGTAGATTCACAAGATTAAAATTGATGCGC
TTAATTTAATGTATCTTGGCTAAACTTGATCTGATTCTAATCTTGGTTTGAGACAGGGTCTTGTGCTGTTGCTCAGGCTGGAGTGCAGTGGCGCAATCATAGCACACTGACTCCTCAAACTCCCGGGC
TCCGGGGATCCTCACGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCAAATCCAGCTAATTAAAAAAAATTAATTAATTTTACATTTTCAAATTCAAAAGAATAATACAATGAATAT
TCATATTTCTTTCACCTAGATTGACAAAAAGTGGTATATTTAAGACATCACCATCATTGTCTTTCTTCTGGAGTATACAGAACCTGGTTCTGAACACAGGGATATGTTTGTAGCTTCGAGGAATGAAG
GGCTGTTTACAGAGCTACAAAAATAGCTTAGGTGCCATTATCCTCACTGCACTTAATACAGGTGACACATGAAAGCACAGAGTGGGTGGCAGTTCAAGCCTGCGAGGGCCGAGCCTTTCCACTGCTGC
AGCTGTTAGTGGCTGGCACAGGGCAGGATGGCAGACCTAGTGCAGCACAAACAAACCACGCAGTCAGCCAGCTCTCCAGCCAACTGTGTCTACTTCTAAAGTAGAAGTTAGACAAAACATGGGGTTCA
CTTAGACTGGGGTCCTGAGTAGGTGATAGGCTACTTATTACTGGGTGGAAGCGGAGAAGTATGGCAGAAGAACAATAGGCAAATTCAATACTCCCGGAAAGAATTCTAGTTAGTTTAATATTTTGATG
GCATGTTGTGGTTTCTGCAGTGTCGTGAACTTGGCTAAACTGAACTGTGTTCCCAGAATTCCCTTCCTTGTTTGTTTCTCTGGTGAGGGTTGGCCACGAGAGAGATTTGCATGAGGTTTGGAAGTGGA
AGTAGAGCAACAGCCATGTGTATTCACTGGAAGTGGATGTAGGTCAGGCCCTGTTCCATCACGTGCACGTTACCATGGATCTCCTGCACTTGTGGTGTGGGCAGCCGCTGGGCCCACGGCTCCTCCCA
CTCCCGCAGAACTCTGCCTTTGGCTTTTCCAGACCCTGGGCCGGGTATGAGAACCAGCTTCTTGGTCTGCAGCCACAAGGATGAAGGTTTGGGGATGAGAGACCAGCACGGGCTCTGATGAGAGACAG
GTGCAGGTCCCAGCTTGTGGCTTGCAGGTCTCAGTCGTACTTGCTCTCCCTCACCATCCTTTCCAACCGCCTGGCCTGTGGTCTGGTGAAGAAGAAACAGCCGAACCGAGACTTTCACCAGCCCCTCT
AATTGCTCAAACCGCTTTCACAATCCTCTCTTTCTACATCATTCCTAGTGGTTCTTTTCTGATGGAACCTCTGACTGGTAACATGGCATTACCAGTCCTTTCCCTCTCATGTTTTGCTATTTCCTGAT
GGAACCTGGGAGTCTGAGTGATTTGTATTTCAAGAAGCAGTTATGCTGGATCTCTTTGTTGGTTAATACCCCATGACCTATCTGGCCGTTATGGGATATTTCAGGGATAGGAGTTGTGAAAGAGCCCT
TGGCTGGACGTTTCTAGCCTTAATCTTTGGCAAGCCATTTCATTTCCCTGAGCCTCAGTTTCCGCCTTCCTACAGCGTGAGCAGGTCTGGGTGGGCTCTCAAGCCCCTTTCAGCTCTAAGATTCCAAG
TCTGTGATTCCGATACATCTTGACTACAATGAGCGTGTTTACCTTTTGTCTCTGAGCAGTGGCCCTGGGTCTTGGTAGTGACTAAATTCCGAGCTCCCAAGGTGCAGCTGCTTTTCTTCCTTTTAATT
ATAAATTAGCTGTTCATTGGCTGCTTCTTTCTAGAGCCTGTTTTGCTTATCTTGCAATCTGTTCATTTCTGTTGATGAACACAGTCAAATAGGCCTCTATGTGCAGTCTCCTGGTTTCCCTGGTCAAA
GTGGAAGGTTGGTAGAAACTGGCCTTCATGTCTTTGTTTCCCTCAAAGTTTTATTCTTAGTAACGCTATATATGGTTTTATAGACCACACATATATAGTTTCCTGTGTCTTAGATGATAACATCCTTA
AAATATGAAATATATTTTGAACCTAGATACCTACCCAGTATTCTCTGCACAGAGTAAACATTTCATTAAATGAGTTTCAAGGACTCCATACCCTGATATAGGAGTACATTCAAGAAATGAGTTTAGGC
CGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAAATAC
AGAAATTACCCGGGCATGGTGGCTGGTGCCTGTAATCCCCGCTACTTGGGAGGCCAAGGTGGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGTTCGTGCCATTGCACTCTGGCC
TGGGTAACAAGAGTGAAACTCCGTTTAGAAATGAGTTTAGTCTGGGAGAATCTGCTTTTTGAGTAAAAAAGTTTGATTTTATGTATGTGTGCGTCTGTATATATGTTTCTGTATCCTGAGTATTTCTT
TGCGGCTTCTTCAGTTATGAAAGAGGTTGGTACTGTTACCCTTACGTTATAGGTATTACAAACTCGGTTTTACAAGGTTACATAAACTAATGGCCCTGGGGCGAA

hide sequence

RefSeq Acc Id:

XM_011520553 ⟹ XP_011518855

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,078 - 12,461,906 (+)	NCBI

Sequence:

show sequence

CCCGGAAGGAGCGAGCTTGCGGAGCGTGAACCAGTGAGTGAAAGCGGCGCCGCCCGCCGGCCGCAGGTGCGGCAAAGCCAGTGTCATCTGCCGGTTCTCTTAGGGCTCCCGGAAAGAAGGAGGGCTAG
CCGCGTGCGTTCGCGCCGCGCCTCCTTGCGTTTCTGTTCCCCAAATAGGGCCTCTCCTTCTCCCGCCGCCCAGGCCCCTGCGTGGGCTGGACGCGTCAGCCCCACACATTAGCCTCGCTGCGGCGCCC
AGACTCTGCTTTGCCTCCCCGTCCCGGTCCCTGGCCCCTGCCCTGTCGCCCGCCGCCGGAGCGGTGACCGCCCGGCCCGCCGTTCTTCTGCTGCCACCGCTGTCGGCACCATGGGCAGTGAGCAGAGC
TCCGAGGCCGAGAGCCGACCCAACGATCTGAACTCCTCAGTGACTCCTTCACCAGCCAAGCATAGAGCCAAGATGGATGATATTGTGGTTGTAGCTCAGGGCTCCCAGGCCTCACGGAACGTCAGCAA
CGATCCCGATGTCATCAAGTTGCAAGAGATTCCAACCTTCCAGCCCCTTTTGAAAGGGCTATTGAGTGGCCAGACTTCCCCAACAAATGCCAAATTGGAGAAACTGGACTCTCAGCAGGTGTTGCAGC
TCTGCCTCCGATATCAAGATCACCTGCATCAGTGTGCAGAGGCCGTTGCTTTTGACCAGAATGCTTTGGTTAAACGAATCAAAGAGAGATGAGGACTCAGTGTGTCGTCGTGGCTGCTCTTGAGTTCC
TGGGCTCAAGTGGTCCTCCTACCTCAGCCTCCCAAAGTACTGAGATGACAAGCATGAACCACCGCACCTGGCCAGCATTCCTATCTGTCAGTATAAGATTATATTAACTAGTGTTACAGAAACCCCAA
ATGATGGTGGCTTATACAAAATGAAAGTTTATTCATCTCTCTCAGGCCTGGTCTCCTCTTACACATAAACATCCTCATGGACCCAGGCTGCTTCTAGCTCATGATCTGCCAACTCAAAGATGTAACCT
TCATTATTCTCATGGTCTACATGGGGTGCACCTGCATTTCAGCAGCAGCAGAGTGGAGGAGGGGACAGTGAAGAAGAGAAGCAACAAAGAGTGCATGCCGGCTGCCTTTCCAGGAAGGTGCCTGGAAG
CTGCCAGGAGAGACTTCTGCATGCACACACCACTGATTATAACTTGGTCATGTGTCACGGCAAGGCGAGGGTTTTGAGGCAAGAGTTGTGGAGAATAAAGAGTTGTTCACTTTCTATTTGAAAATCAG
CTAGTTTATTCATTTAATTTTTCTTAAGTTCCTGAAACAAAGTTATTTGCAATTTATATGTTTCTGGGCCTGAGTTTCCTGGAATAGTAAAGTCATGTTAACAGAAACAGTGGAAAAGAAAATTCATG
TTAATGTACACGGTAAGCTGTGTGGGTGTAAGTAGTTTTGGTTCTCAATATCTATCCTAGGACCTCGCATAGTGCATGGCACATGGCACGTGATGCTACTCAATAACTGTCTGTTGCCTGTGTGGTAA
TAGCTCACACTTACCCAGTGCTCACTGTGTGCTGGGCAGGATGATAATGTTCTCCTTGCAGAATCTCATTTAATCCTCAGGACAGTCTTTTAAGTGGCCACTCTTGTTATCCCCACTACCTTGCAGAT
GAGGAAACCGAGGCTTACGTATATTTTCATTCATTTATTCAACAAATATTTATTCAGGACCTGCTATGTGCTGGGTACTGGAGATATAGCAGGGTTTAAAGCACACCAAATCCTTGCTCTCATGGAAT
CAGCCTTCTGGGTAATTTTCTAAAATCACATAGATACTGGGTCGAGGGTAGCCCTTAAACCTAGGTGGTCTGACTCCTGAACTTGCAATCTTAACCGTTGTTTTATTGGTAGATGAATGGATTGATGA
GTGTGGTGAACAAAAATTGTGACTATCCATTTCACAAACAGCTTCGTGGTTGCCCTTTAGCTCCAGCTTGGATGGTTAGATTGCCCTGTCTGAAGCTGGATTTATTTTATTTTATTTATTTTTGGAGA
TGGAGTCTCGCTCTGTCACCCAGGCT

hide sequence

RefSeq Acc Id:

XM_047428271 ⟹ XP_047284227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,423 - 12,471,233 (+)	NCBI

RefSeq Acc Id:

XM_054371040 ⟹ XP_054227015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	12,226,213 - 12,340,409 (+)	NCBI

RefSeq Acc Id:

XM_054371041 ⟹ XP_054227016

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	12,226,655 - 12,340,409 (+)	NCBI

RefSeq Acc Id:

XM_054371042 ⟹ XP_054227017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	12,226,205 - 12,340,409 (+)	NCBI

RefSeq Acc Id:

XM_054371043 ⟹ XP_054227018

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	12,226,208 - 12,334,468 (+)	NCBI


Protein RefSeqs	NP_001287671	(Get FASTA)	NCBI Sequence Viewer
	NP_001317285	(Get FASTA)	NCBI Sequence Viewer
	NP_477517	(Get FASTA)	NCBI Sequence Viewer
	XP_011518853	(Get FASTA)	NCBI Sequence Viewer
	XP_011518855	(Get FASTA)	NCBI Sequence Viewer
	XP_047284227	(Get FASTA)	NCBI Sequence Viewer
	XP_054187671	(Get FASTA)	NCBI Sequence Viewer
	XP_054187672	(Get FASTA)	NCBI Sequence Viewer
	XP_054187673	(Get FASTA)	NCBI Sequence Viewer
	XP_054227015	(Get FASTA)	NCBI Sequence Viewer
	XP_054227016	(Get FASTA)	NCBI Sequence Viewer
	XP_054227017	(Get FASTA)	NCBI Sequence Viewer
	XP_054227018	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH13668	(Get FASTA)	NCBI Sequence Viewer
	AAK71328	(Get FASTA)	NCBI Sequence Viewer
	AAK71329	(Get FASTA)	NCBI Sequence Viewer
	BAC11360	(Get FASTA)	NCBI Sequence Viewer
	CAC38640	(Get FASTA)	NCBI Sequence Viewer
	CAF86221	(Get FASTA)	NCBI Sequence Viewer
	EAW96257	(Get FASTA)	NCBI Sequence Viewer
	EAW96258	(Get FASTA)	NCBI Sequence Viewer
	EAW96259	(Get FASTA)	NCBI Sequence Viewer
	EAW96260	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000298571
	ENSP00000298571.6
	ENSP00000321546
	ENSP00000321546.4
	ENSP00000443023
	ENSP00000486120.1
	ENSP00000486584.1
GenBank Protein	Q969J3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_477517 ⟸ NM_058169
- Peptide Label:	isoform 1
- UniProtKB:	Q96QS5 (UniProtKB/Swiss-Prot), Q969J3 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIPTFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKEMDLSVETL FSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEGERLEPFSMKPDRELRL hide sequence

RefSeq Acc Id:	NP_001287671 ⟸ NM_001300742
- Peptide Label:	isoform 2
- UniProtKB:	G3V1P3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIPTFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKEMDLSVETLFSFMQERQKRYAKYAEQIQ KVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEGERLEPFSMKPDRELRL hide sequence

RefSeq Acc Id:	XP_011518853 ⟸ XM_011520551
- Peptide Label:	isoform X1
- Sequence:	show sequence MDDIVVVAQGSQASRNVSNDPDVIKLQEIPTFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCL RYQDHLHQCAEAVAFDQNALVKRIKEMDLSVETLFSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEGERLEPFSMKPDRELRL hide sequence

RefSeq Acc Id:	XP_011518855 ⟸ XM_011520553
- Peptide Label:	isoform X2
- Sequence:	show sequence MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIPTFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKER hide sequence

RefSeq Acc Id:	NP_001317285 ⟸ NM_001330356
- Peptide Label:	isoform 3
- UniProtKB:	Q969J3 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSEQSSEAESRPNDLNSSGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKEMDLSVETLFSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSM LPEGERLEPFSMKPDRELRL hide sequence

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q969J3-F1-model_v2	AlphaFold	Q969J3	1-196	view protein structure

RGD ID:

7223221

Promoter ID:

EPDNEW_H17356

Type:

initiation region

Name:

BORCS5_1

Description:

BLOC-1 related complex subunit 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17357

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,118 - 12,357,178	EPDNEW

RGD ID:

7223223

Promoter ID:

EPDNEW_H17357

Type:

initiation region

Name:

BORCS5_2

Description:

BLOC-1 related complex subunit 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H17356

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	12,357,349 - 12,357,409	EPDNEW

RGD ID:

6790228

Promoter ID:

HG_KWN:15064

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:

ENST00000298571, NM_058169, NR_024061

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	12,401,151 - 12,401,651 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	BORCS5	COSMIC
Ensembl Genes	ENSG00000165714	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000280689	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000298571	ENTREZGENE
	ENST00000298571.6	UniProtKB/Swiss-Prot
	ENST00000314565	ENTREZGENE
	ENST00000314565.9	UniProtKB/Swiss-Prot
	ENST00000542728	ENTREZGENE
	ENST00000627374.3	UniProtKB/Swiss-Prot
	ENST00000627461.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000165714	GTEx
	ENSG00000280689	GTEx
HGNC ID	HGNC:17950	ENTREZGENE
Human Proteome Map	BORCS5	Human Proteome Map
InterPro	TBORCS5	UniProtKB/Swiss-Prot
KEGG Report	hsa:118426	UniProtKB/Swiss-Prot
NCBI Gene	118426	ENTREZGENE
OMIM	616598	OMIM
PANTHER	BLOC-1-RELATED COMPLEX SUBUNIT 5	UniProtKB/Swiss-Prot
	PTHR31634	UniProtKB/Swiss-Prot
Pfam	LOH1CR12	UniProtKB/Swiss-Prot
PharmGKB	PA30421	PharmGKB
UniProt	BORC5_HUMAN	UniProtKB/Swiss-Prot
	G3V1P3	ENTREZGENE, UniProtKB/TrEMBL
	Q969J3	ENTREZGENE
	Q96QS5	ENTREZGENE
UniProt Secondary	Q96QS5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-08-11	BORCS5	BLOC-1 related complex subunit 5	LOH12CR1	loss of heterozygosity, 12, chromosomal region 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 Human Phenotype Annotations - ClinVar

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