VRTN (vertebrae development associated)

Gene: VRTN (vertebrae development associated) Homo sapiens

Analyze

Symbol:

VRTN

Name:

vertebrae development associated

RGD ID:

1347442

HGNC Page

HGNC:20223

Description:

Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C14orf115; FLJ10811; hypothetical protein LOC55237; vertebrae development homolog (pig); vertnin

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	14	74,302,993 - 74,360,008 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	74,303,069 - 74,360,008 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	74,815,174 - 74,826,711 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	73,884,919 - 73,896,464 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	73,884,964 - 73,896,463	NCBI
Celera	14	54,852,482 - 54,864,028 (+)	NCBI		Celera
Cytogenetic Map	14	q24.3	NCBI
HuRef	14	54,982,714 - 54,994,327 (+)	NCBI		HuRef
CHM1_1	14	74,754,705 - 74,766,250 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	68,510,839 - 68,567,888 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

intellectual disability (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3',4,4',5-Pentachlorobiphenyl (ISO)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cyclosporin A (EXP)

dorsomorphin (EXP)

entinostat (EXP)

ivermectin (EXP)

pirinixic acid (EXP)

SB 431542 (EXP)

triclosan (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of transcription by RNA polymerase II (IBA,ISS)

Cellular Component

chromatin (IBA)

nucleus (IEA,ISS)

Molecular Function

DNA binding (IEA)

protein binding (IPI)

sequence-specific DNA binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability, mild (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:15489334	PMID:18029348	PMID:21232157	PMID:21873635	PMID:26687479	PMID:31586073	PMID:32296183	PMID:33961781	PMID:35182466

Genomics

Comparative Map Data

VRTN
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	74,302,993 - 74,360,008 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	74,303,069 - 74,360,008 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	74,815,174 - 74,826,711 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	73,884,919 - 73,896,464 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	73,884,964 - 73,896,463	NCBI
Celera	14	54,852,482 - 54,864,028 (+)	NCBI		Celera
Cytogenetic Map	14	q24.3	NCBI
HuRef	14	54,982,714 - 54,994,327 (+)	NCBI		HuRef
CHM1_1	14	74,754,705 - 74,766,250 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	68,510,839 - 68,567,888 (+)	NCBI		T2T-CHM13v2.0

Vrtn
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	84,687,793 - 84,698,229 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	84,687,793 - 84,698,229 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	84,641,019 - 84,651,455 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	84,641,019 - 84,651,455 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	85,981,969 - 85,992,405 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	85,532,644 - 85,541,203 (+)	NCBI		MGSCv36	mm8
Celera	12	86,096,661 - 86,107,097 (+)	NCBI		Celera
Cytogenetic Map	12	D1	NCBI
cM Map	12	39.32	NCBI

Vrtn
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	110,025,741 - 110,028,005 (+)	NCBI		GRCr8
mRatBN7.2	6	104,294,655 - 104,296,919 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	104,294,655 - 104,296,919 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	104,463,370 - 104,465,634 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	104,762,459 - 104,764,723 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	104,132,027 - 104,134,291 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	108,363,454 - 108,366,119 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	108,363,485 - 108,365,749 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	117,181,668 - 117,184,270 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	6	102,120,042 - 102,122,707 (+)	NCBI		Celera
Cytogenetic Map	6	q31	NCBI

Vrtn
(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_004955523	1,126,652 - 1,128,784 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955523	1,125,800 - 1,136,991 (-)	NCBI	ChiLan1.0	ChiLan1.0

VRTN
(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	15	75,427,803 - 75,439,417 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	74,644,310 - 74,655,923 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	54,897,123 - 54,908,748 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	73,746,100 - 73,757,053 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	73,753,826 - 73,755,934 (+)	Ensembl	panpan1.1		panPan2

VRTN
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	47,542,659 - 47,545,639 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	47,537,364 - 47,545,658 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	47,221,284 - 47,230,754 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	47,764,122 - 47,773,650 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	8	47,433,026 - 47,442,487 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	47,454,368 - 47,463,856 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	47,841,642 - 47,851,102 (+)	NCBI		UU_Cfam_GSD_1.0

Vrtn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	28,495,867 - 28,498,824 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936488	3,570,144 - 3,572,285 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936488	3,570,144 - 3,572,285 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

VRTN
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	97,614,707 - 97,624,273 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	97,614,707 - 97,624,273 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	103,457,506 - 103,467,076 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

VRTN
(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	24	51,568,125 - 51,571,559 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	51,568,351 - 51,570,459 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666053	39,797,738 - 39,809,114 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Vrtn
(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_004624734	27,267,618 - 27,269,756 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624734	27,266,770 - 27,278,305 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in VRTN
34 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	copy number loss	See cases [RCV000051548]	Chr14:73877072..78042422 [GRCh38] Chr14:74343775..78508765 [GRCh37] Chr14:73413528..77578518 [NCBI36] Chr14:14q24.3	pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]\|See cases [RCV000052293]	Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2	pathogenic
NM_018228.2(VRTN):c.972C>T (p.Phe324=)	single nucleotide variant	Malignant melanoma [RCV000070607]	Chr14:74357755 [GRCh38] Chr14:74824458 [GRCh37] Chr14:73894211 [NCBI36] Chr14:14q24.3	not provided
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	deletion	Intellectual disability, mild [RCV000190520]	Chr14:73152115..77698582 [GRCh37] Chr14:14q24.2-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	copy number loss	See cases [RCV000134154]	Chr14:69562099..81975384 [GRCh38] Chr14:70028816..82441728 [GRCh37] Chr14:69098569..81511481 [NCBI36] Chr14:14q24.1-31.1	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	copy number loss	See cases [RCV000143265]	Chr14:73343213..78835059 [GRCh38] Chr14:73809921..79301402 [GRCh37] Chr14:72879674..78371155 [NCBI36] Chr14:14q24.3-31.1	pathogenic\|likely pathogenic
NC_000014.9:g.74326588G>A	single nucleotide variant	Lung cancer [RCV000099044]	Chr14:74326588 [GRCh38] Chr14:74793291 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	copy number gain	See cases [RCV000512497]	Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33	pathogenic
GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	copy number gain	not provided [RCV000683615]	Chr14:74219440..74883692 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_018228.3(VRTN):c.1470C>A (p.Asp490Glu)	single nucleotide variant	not provided [RCV000972173]	Chr14:74358253 [GRCh38] Chr14:74824956 [GRCh37] Chr14:14q24.3	benign
GRCh37/hg19 14q24.3(chr14:74040231-76368547)	copy number loss	not provided [RCV000767572]	Chr14:74040231..76368547 [GRCh37] Chr14:14q24.3	likely pathogenic
NM_018228.3(VRTN):c.892C>T (p.Arg298Cys)	single nucleotide variant	Inborn genetic diseases [RCV003288603]	Chr14:74357675 [GRCh38] Chr14:74824378 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.554G>A (p.Arg185Gln)	single nucleotide variant	Inborn genetic diseases [RCV003241254]	Chr14:74357337 [GRCh38] Chr14:74824040 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.984C>T (p.Gly328=)	single nucleotide variant	not provided [RCV000973946]	Chr14:74357767 [GRCh38] Chr14:74824470 [GRCh37] Chr14:14q24.3	benign
NC_000014.9:g.74303274G>A	single nucleotide variant	not provided [RCV001621628]	Chr14:74303274 [GRCh38] Chr14:74769977 [GRCh37] Chr14:14q24.3	benign
NC_000014.9:g.74303138C>T	single nucleotide variant	not provided [RCV001539047]	Chr14:74303138 [GRCh38] Chr14:74769841 [GRCh37] Chr14:14q24.3	benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	copy number gain	14q22.2q24.3 duplication [RCV001506967]	Chr14:54654001..75828024 [GRCh37] Chr14:14q22.2-24.3	likely pathogenic
NC_000014.9:g.74303196T>A	single nucleotide variant	not provided [RCV001733129]	Chr14:74303196 [GRCh38] Chr14:74769899 [GRCh37] Chr14:14q24.3	likely benign
GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3	copy number gain	not provided [RCV001827622]	Chr14:74490251..75116040 [GRCh37] Chr14:14q24.3	uncertain significance
NC_000014.9:g.74303027G>A	single nucleotide variant	not provided [RCV001584988]	Chr14:74303027 [GRCh38] Chr14:74769730 [GRCh37] Chr14:14q24.3	likely benign
NC_000014.9:g.74303033G>C	single nucleotide variant	not provided [RCV001732428]	Chr14:74303033 [GRCh38] Chr14:74769736 [GRCh37] Chr14:14q24.3	likely benign
NC_000014.9:g.74303036A>G	single nucleotide variant	not provided [RCV001786595]	Chr14:74303036 [GRCh38] Chr14:74769739 [GRCh37] Chr14:14q24.3	likely benign
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_018228.3(VRTN):c.2023A>G (p.Ser675Gly)	single nucleotide variant	Inborn genetic diseases [RCV002840361]	Chr14:74358806 [GRCh38] Chr14:74825509 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1031G>A (p.Arg344His)	single nucleotide variant	Inborn genetic diseases [RCV002969785]	Chr14:74357814 [GRCh38] Chr14:74824517 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1011G>C (p.Gln337His)	single nucleotide variant	Inborn genetic diseases [RCV002817773]	Chr14:74357794 [GRCh38] Chr14:74824497 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.931G>A (p.Ala311Thr)	single nucleotide variant	Inborn genetic diseases [RCV002752109]	Chr14:74357714 [GRCh38] Chr14:74824417 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.925A>G (p.Lys309Glu)	single nucleotide variant	Inborn genetic diseases [RCV002772361]	Chr14:74357708 [GRCh38] Chr14:74824411 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1535G>A (p.Arg512His)	single nucleotide variant	Inborn genetic diseases [RCV002659765]	Chr14:74358318 [GRCh38] Chr14:74825021 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1771C>A (p.Pro591Thr)	single nucleotide variant	Inborn genetic diseases [RCV002660569]	Chr14:74358554 [GRCh38] Chr14:74825257 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1477G>A (p.Ala493Thr)	single nucleotide variant	Inborn genetic diseases [RCV002956008]	Chr14:74358260 [GRCh38] Chr14:74824963 [GRCh37] Chr14:14q24.3	likely benign
NM_018228.3(VRTN):c.1697G>A (p.Gly566Asp)	single nucleotide variant	Inborn genetic diseases [RCV002768035]	Chr14:74358480 [GRCh38] Chr14:74825183 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1798G>A (p.Glu600Lys)	single nucleotide variant	Inborn genetic diseases [RCV002957101]	Chr14:74358581 [GRCh38] Chr14:74825284 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1346G>C (p.Ser449Thr)	single nucleotide variant	Inborn genetic diseases [RCV002763456]	Chr14:74358129 [GRCh38] Chr14:74824832 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.818T>C (p.Leu273Pro)	single nucleotide variant	Inborn genetic diseases [RCV002964188]	Chr14:74357601 [GRCh38] Chr14:74824304 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1073G>A (p.Gly358Asp)	single nucleotide variant	Inborn genetic diseases [RCV002648712]	Chr14:74357856 [GRCh38] Chr14:74824559 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.580C>T (p.Arg194Cys)	single nucleotide variant	Inborn genetic diseases [RCV002960422]	Chr14:74357363 [GRCh38] Chr14:74824066 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1682C>T (p.Pro561Leu)	single nucleotide variant	Inborn genetic diseases [RCV002656487]	Chr14:74358465 [GRCh38] Chr14:74825168 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1517G>A (p.Arg506His)	single nucleotide variant	Inborn genetic diseases [RCV003174446]	Chr14:74358300 [GRCh38] Chr14:74825003 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1211G>A (p.Arg404Gln)	single nucleotide variant	Inborn genetic diseases [RCV003191945]	Chr14:74357994 [GRCh38] Chr14:74824697 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.941T>C (p.Phe314Ser)	single nucleotide variant	Inborn genetic diseases [RCV003286648]	Chr14:74357724 [GRCh38] Chr14:74824427 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.1012C>T (p.Arg338Trp)	single nucleotide variant	Inborn genetic diseases [RCV003385204]	Chr14:74357795 [GRCh38] Chr14:74824498 [GRCh37] Chr14:14q24.3	uncertain significance
NM_018228.3(VRTN):c.856T>G (p.Cys286Gly)	single nucleotide variant	Inborn genetic diseases [RCV003385126]	Chr14:74357639 [GRCh38] Chr14:74824342 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	822
Count of miRNA genes:	608
Interacting mature miRNAs:	682
Transcripts:	ENST00000256362, ENST00000557177
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-144610

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	74,816,969 - 74,817,255	UniSTS	GRCh37
Build 36	14	73,886,722 - 73,887,008	RGD	NCBI36
Celera	14	54,854,287 - 54,854,573	RGD
Cytogenetic Map	14	q24.3	UniSTS
HuRef	14	54,984,519 - 54,984,805	UniSTS
TNG Radiation Hybrid Map	14	26982.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

181

Low

404

Below cutoff

1109

974

554

129

555

1821

598

1587

358

539

418

1206

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_018228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536911	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX880291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CX165172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000256362 ⟹ ENSP00000256362

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	74,348,471 - 74,360,008 (+)	Ensembl

RefSeq Acc Id:

ENST00000557177 ⟹ ENSP00000452158

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	74,303,069 - 74,357,033 (+)	Ensembl

RefSeq Acc Id:

NM_018228 ⟹ NP_060698

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	74,348,471 - 74,360,008 (+)	NCBI
GRCh37	14	74,815,166 - 74,826,711 (+)	RGD
Build 36	14	73,884,919 - 73,896,464 (+)	NCBI Archive
Celera	14	54,852,482 - 54,864,028 (+)	RGD
HuRef	14	54,982,714 - 54,994,327 (+)	ENTREZGENE
CHM1_1	14	74,754,705 - 74,766,250 (+)	NCBI
T2T-CHM13v2.0	14	68,556,351 - 68,567,888 (+)	NCBI

Sequence:

show sequence

AGTTGGCTGTAGACGGTCCATGCTCAATGGTCCTCTACAGATATGAAACTGGTTCTGGAGTGAG
ACGAGCTCGGCTGGGGACGCTACTTGAGAAGGCCTTTCCCCACAGGGTGACTTAAATGTCCCAG
GCTGGAAGGTGGAGCGAGAAGTGGATGCCCCCAGGGCTCTGGGTCACACTCCAGGATGACTTCT
CGGAACCAGCTGGTGCAGAAGGTGCTGCAGGAGCTGCAGGAAGCAGTGGAGTGCGAAGGCCTGG
AGGGTCTCATAGGTGCTTCCTTGGAGGCCAAGCAGGTCCTGTCTTCCTTCACTCTCCCCACCTG
CCGGGAGGGAGGCCCTGGCCTCCAGGTGCTGGAAGTGGACTCGGTGGCCCTGAGCCTGTATCCA
GAAGATGCTCCACGGAACATGCTGCCGCTGGTGTGCAAGGGGGAGGGCAGCCTGCTGTTCGAGG
CGGCCAGCATGCTGCTGTGGGGTGACGCAGGCCTCAGCCTGGAGCTGCGGGCCCGCACCGTGGT
AGAGATGCTGCTGCACAGACACTACTACCTCCAGGGCATGATCGACTCCAAAGTGATGCTGCAG
GCCGTGCGCTACTCCCTATGCTCTGAGGAGTCCCCTGAGATGACCAGCTTGCCCCCCGCCACGC
TGGAGGCCATCTTCGATGCCGACGTCAAGGCCTCCTGTTTCCCCAGCAGCTTCTCCAACGTGTG
GCACTTGTATGCTCTCGCCTCTGTCCTCCAGCGGAACATCTACTCCATCTACCCCATGCGCAAC
CTCAAGATCCGGCCCTACTTCAACCGTGTCATCCGGCCCCGCCGCTGCGACCACGTGCCCTCCA
CGCTGCACATCATGTGGGCTGGCCAGCCCCTCACCAGCCACTTCTTCCGCCACCAGTACTTTGC
CCCTGTGGTGGGGCTGGAAGAGGTGGAGGCTGAAGGTGCCCCTGGCGTGGCCCCAGCTCTTCCA
GCCCTGGCCCCACTCTCATCGCCGGCCAAGACCCTGGAGCTGCTCAACCGTGAACCTGGCCTCA
GCTACTCTCACCTCTGTGAGCGCTACAGCGTCACCAAAAGCACCTTCTACCGCTGGCGGCGGCA
GTCCCAGGAGCACCGGCAGAAGGTTGCTGCCCGCTTCTCCGCCAAGCACTTCCTGCAGGACAGC
TTCCACCGGGGGGGCGTCGTGCCACTTCAGCAGTTCCTCCAGCGGTTCCCGGAGATCTCCCGCT
CAACCTACTATGCCTGGAAGCATGAGCTGCTGGGCTCTGGCACCTGCCCGGCCTTGCCCCCCAG
GGAGGTGCTGGGCATGGAGGAGCTAGAGAAGCTGCCGGAGGAGCAGGTGGCTGAGGAGGAGCTG
GAGTGCTCCGCACTGGCGGTGTCAAGCCCTGGAATGGTCTTAATGCAGCGGGCCAAGTTGTACC
TGGAGCATTGCATCTCCCTGAACACACTGGTACCCTATCGCTGCTTCAAACGCAGGTTCCCTGG
CATCTCACGGTCCACTTATTATAATTGGCGGCGAAAGGCCCTCCGGAGGAACCCCAGCTTCAAG
CCGGCACCAGCCCTCTCTGCTGCTGGGACTCCCCAGCTAGCATCTGTTGGGGAAGGGGCTGTAA
TTCCTTGGAAGAGTGAGGCGGAAGAGGGGGCAGGGAATGCCACAGGTGAGGACCCTCCCGCCCC
CGGGGAGCTCCTGCCACTAAGGATGCCCCTGTCCCGTTGGCAGAGGCGTCTGCGCAGGGCTGCC
CGCAGGCAGGTGCTGAGTGGGCATCTCCCTTTCTGCCGCTTCCGCCTCCGCTACCCCAGCCTGT
CACCTTCTGCCTTTTGGGTCTGGAAGAGTCTTGCTCGGGGTTGGCCCAGAGGCCTGTCCAAACT
TCAGGTGCCGGTCCCCACCTTGGGCAAAGGGGGGCAGGAGGCTGAGGAGAAGCAGGAGAAGGAG
GCTGGCAGGGATGTGACAGCTGTGATGGCCCCACCTGTGGGGGCTTCTTCAGAAGATGTAGAGG
GAGGGCCTTCCAGAGAGGGGGCCCTGCAGGAGGGGGCCACAGCCCAGGGCCAGCCCCACAGTGG
GCCCTTGCTGAGCCAACCTGTGGTGGCAGCAGCGGGTGGCAGGGATGGCCGGATGCTGGTGATG
GACATGATCGCTACCACGAAGTTCAAGGCCCAGGCCAAGCTGTTCTTGCAGAAGCGCTTCCAGT
CCAAGAGCTTTCCCTCCTACAAGGAGTTCAGTGCCCTCTTTCCCCTCACTGCCCGCTCCACATA
CTACATGTGGAAGCGAGCCCTCTATGACGGCCTGACCCTGGTAGATGGCTGACAGGGAGGTACA
AAAGGGGCTGGGAAGAAGGGGGACCAGTTTGGAGAGGGTCAGGGACCTGAGCTGACCCCAGGCT
TGGCCAGGATGTCCTTTGCTCTGGGTCCCACAGTGTCTACCCTAAGTCCAAGGGTATATTTGTG
TTATTTTCTGGCTCCAGGACAGAGAATGCCAGAAATCAGCCATCTGGTCTCCCGTAGGAAACTG
TGGGACCAGAGATATCCTCTTTCGTTGTTTGCTGGTCATATTTTTACTGTTATGATTTAGTTTT
TGGTTTTGATTTGAGTGGGTTGGTTGGCCCCCTTGCTGGAGTTGGAAGCCGTATGTATGTCAGG
GGGTTTAGAGGGGGGTTGGTTAGCTAGAGCTGCTTTCAGCTTTTCCTGGAGACAAAAGGAGTGT
TATAGCATGATCATCGGTCCCACTGGGCAGAACGTTATCTTCAGTTTCTTTTGGGGGTTGGCAT
CCTCTTTACTCAGTTGTTTCCCAAAGGAACATTAGGCTCGAATATGGGGGCCAGGTGTGGTGGC
TTATGCCTGTAATCCTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTAGGAGTTA
GAGACCACCCTGGGCAATGTAGTGAGACCTCATCTCTTAGAAAAAAAAAAAGAAAGAAAATCAA
ATGTAGAGCTGATCAGCAGCTTGTGCCTGGCATCCCCAAGGGAGAAGGTGCCAGGTCAGCAGGA
GCAGCAGCAGGGATGTATAGAAAGAACCACAGCTGGCCTCTAAAGGATGGCACTGAGGCACCGG
AGATCTTGAGGCACTGGAGATCACTGAGGGGCTGGCCTGTCCCCTGCAAGGAGTGTGGGACCAG
GTGGGGCAAGGCTGGGAGATGCAGGCTCTGTTTGCAGATTATGGCCCAGAGTCTCTGCTTGTGG
GTGCTTGATCCACCTGCTGGGACCCTGCAGTCCTCGGCCAGCCTGGCTGTCAGTTGGGGATTCC
ACCTTTCTGCTGAGCGTCTTCTCGGAGCTGGAGGCCCATCTTCAGTGAGAGATCACAAAGCGGC
CAGGCAGGTGGGAGACTGAATTTGCCTTGTTCGAGAGTAACGTTTGAAAACCAAAGAAATAAAG
TGATGCAGTGCCCACA

hide sequence

RefSeq Acc Id:

XM_011536911 ⟹ XP_011535213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	74,302,993 - 74,360,008 (+)	NCBI

Sequence:

show sequence

CCAGAGAGTGGACTCGGCTGACCCGGCGGCTACAGCGCCCCCATATTTTCTGGGAGACTTCCCT
TTTGACAATAGGTACGTTTCCTGAGGACAGCTGCTCTGTGAAGCCCACTGCCCCAAAGGCACCT
ATCAAAGACCCTGCAAACAAGCAGATGGCAATCCAGGTTGCCAATGACATTGCCCATCCCAGGT
ACCTGGGCTGCCTGCTTTTCCCTGAAGTGGGAGCCTGGCTTGCAGGATGACTTCTCGGAACCAG
CTGGTGCAGAAGGTGCTGCAGGAGCTGCAGGAAGCAGTGGAGTGCGAAGGCCTGGAGGGTCTCA
TAGGTGCTTCCTTGGAGGCCAAGCAGGTCCTGTCTTCCTTCACTCTCCCCACCTGCCGGGAGGG
AGGCCCTGGCCTCCAGGTGCTGGAAGTGGACTCGGTGGCCCTGAGCCTGTATCCAGAAGATGCT
CCACGGAACATGCTGCCGCTGGTGTGCAAGGGGGAGGGCAGCCTGCTGTTCGAGGCGGCCAGCA
TGCTGCTGTGGGGTGACGCAGGCCTCAGCCTGGAGCTGCGGGCCCGCACCGTGGTAGAGATGCT
GCTGCACAGACACTACTACCTCCAGGGCATGATCGACTCCAAAGTGATGCTGCAGGCCGTGCGC
TACTCCCTATGCTCTGAGGAGTCCCCTGAGATGACCAGCTTGCCCCCCGCCACGCTGGAGGCCA
TCTTCGATGCCGACGTCAAGGCCTCCTGTTTCCCCAGCAGCTTCTCCAACGTGTGGCACTTGTA
TGCTCTCGCCTCTGTCCTCCAGCGGAACATCTACTCCATCTACCCCATGCGCAACCTCAAGATC
CGGCCCTACTTCAACCGTGTCATCCGGCCCCGCCGCTGCGACCACGTGCCCTCCACGCTGCACA
TCATGTGGGCTGGCCAGCCCCTCACCAGCCACTTCTTCCGCCACCAGTACTTTGCCCCTGTGGT
GGGGCTGGAAGAGGTGGAGGCTGAAGGTGCCCCTGGCGTGGCCCCAGCTCTTCCAGCCCTGGCC
CCACTCTCATCGCCGGCCAAGACCCTGGAGCTGCTCAACCGTGAACCTGGCCTCAGCTACTCTC
ACCTCTGTGAGCGCTACAGCGTCACCAAAAGCACCTTCTACCGCTGGCGGCGGCAGTCCCAGGA
GCACCGGCAGAAGGTTGCTGCCCGCTTCTCCGCCAAGCACTTCCTGCAGGACAGCTTCCACCGG
GGGGGCGTCGTGCCACTTCAGCAGTTCCTCCAGCGGTTCCCGGAGATCTCCCGCTCAACCTACT
ATGCCTGGAAGCATGAGCTGCTGGGCTCTGGCACCTGCCCGGCCTTGCCCCCCAGGGAGGTGCT
GGGCATGGAGGAGCTAGAGAAGCTGCCGGAGGAGCAGGTGGCTGAGGAGGAGCTGGAGTGCTCC
GCACTGGCGGTGTCAAGCCCTGGAATGGTCTTAATGCAGCGGGCCAAGTTGTACCTGGAGCATT
GCATCTCCCTGAACACACTGGTACCCTATCGCTGCTTCAAACGCAGGTTCCCTGGCATCTCACG
GTCCACTTATTATAATTGGCGGCGAAAGGCCCTCCGGAGGAACCCCAGCTTCAAGCCGGCACCA
GCCCTCTCTGCTGCTGGGACTCCCCAGCTAGCATCTGTTGGGGAAGGGGCTGTAATTCCTTGGA
AGAGTGAGGCGGAAGAGGGGGCAGGGAATGCCACAGGTGAGGACCCTCCCGCCCCCGGGGAGCT
CCTGCCACTAAGGATGCCCCTGTCCCGTTGGCAGAGGCGTCTGCGCAGGGCTGCCCGCAGGCAG
GTGCTGAGTGGGCATCTCCCTTTCTGCCGCTTCCGCCTCCGCTACCCCAGCCTGTCACCTTCTG
CCTTTTGGGTCTGGAAGAGTCTTGCTCGGGGTTGGCCCAGAGGCCTGTCCAAACTTCAGGTGCC
GGTCCCCACCTTGGGCAAAGGGGGGCAGGAGGCTGAGGAGAAGCAGGAGAAGGAGGCTGGCAGG
GATGTGACAGCTGTGATGGCCCCACCTGTGGGGGCTTCTTCAGAAGATGTAGAGGGAGGGCCTT
CCAGAGAGGGGGCCCTGCAGGAGGGGGCCACAGCCCAGGGCCAGCCCCACAGTGGGCCCTTGCT
GAGCCAACCTGTGGTGGCAGCAGCGGGTGGCAGGGATGGCCGGATGCTGGTGATGGACATGATC
GCTACCACGAAGTTCAAGGCCCAGGCCAAGCTGTTCTTGCAGAAGCGCTTCCAGTCCAAGAGCT
TTCCCTCCTACAAGGAGTTCAGTGCCCTCTTTCCCCTCACTGCCCGCTCCACATACTACATGTG
GAAGCGAGCCCTCTATGACGGCCTGACCCTGGTAGATGGCTGACAGGGAGGTACAAAAGGGGCT
GGGAAGAAGGGGGACCAGTTTGGAGAGGGTCAGGGACCTGAGCTGACCCCAGGCTTGGCCAGGA
TGTCCTTTGCTCTGGGTCCCACAGTGTCTACCCTAAGTCCAAGGGTATATTTGTGTTATTTTCT
GGCTCCAGGACAGAGAATGCCAGAAATCAGCCATCTGGTCTCCCGTAGGAAACTGTGGGACCAG
AGATATCCTCTTTCGTTGTTTGCTGGTCATATTTTTACTGTTATGATTTAGTTTTTGGTTTTGA
TTTGAGTGGGTTGGTTGGCCCCCTTGCTGGAGTTGGAAGCCGTATGTATGTCAGGGGGTTTAGA
GGGGGGTTGGTTAGCTAGAGCTGCTTTCAGCTTTTCCTGGAGACAAAAGGAGTGTTATAGCATG
ATCATCGGTCCCACTGGGCAGAACGTTATCTTCAGTTTCTTTTGGGGGTTGGCATCCTCTTTAC
TCAGTTGTTTCCCAAAGGAACATTAGGCTCGAATATGGGGGCCAGGTGTGGTGGCTTATGCCTG
TAATCCTAGCGCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTAGGAGTTAGAGACCACC
CTGGGCAATGTAGTGAGACCTCATCTCTTAGAAAAAAAAAAAGAAAGAAAATCAAATGTAGAGC
TGATCAGCAGCTTGTGCCTGGCATCCCCAAGGGAGAAGGTGCCAGGTCAGCAGGAGCAGCAGCA
GGGATGTATAGAAAGAACCACAGCTGGCCTCTAAAGGATGGCACTGAGGCACCGGAGATCTTGA
GGCACTGGAGATCACTGAGGGGCTGGCCTGTCCCCTGCAAGGAGTGTGGGACCAGGTGGGGCAA
GGCTGGGAGATGCAGGCTCTGTTTGCAGATTATGGCCCAGAGTCTCTGCTTGTGGGTGCTTGAT
CCACCTGCTGGGACCCTGCAGTCCTCGGCCAGCCTGGCTGTCAGTTGGGGATTCCACCTTTCTG
CTGAGCGTCTTCTCGGAGCTGGAGGCCCATCTTCAGTGAGAGATCACAAAGCGGCCAGGCAGGT
GGGAGACTGAATTTGCCTTGTTCGAGAGTAACGTTTGAAAACCAAAGAAATAAAGTGATGCAGT
GCCCACA

hide sequence

RefSeq Acc Id:

XM_054376305 ⟹ XP_054232280

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	68,510,839 - 68,567,888 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_060698	(Get FASTA)	NCBI Sequence Viewer
	XP_011535213	(Get FASTA)	NCBI Sequence Viewer
	XP_054232280	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH53325	(Get FASTA)	NCBI Sequence Viewer
	BAA91826	(Get FASTA)	NCBI Sequence Viewer
	BAB14466	(Get FASTA)	NCBI Sequence Viewer
	CAE90886	(Get FASTA)	NCBI Sequence Viewer
	CAK32387	(Get FASTA)	NCBI Sequence Viewer
	EAW81173	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000256362
	ENSP00000256362.4
	ENSP00000452158.1
GenBank Protein	Q9H8Y1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060698 ⟸ NM_018228

- UniProtKB:

Q9NVC7 (UniProtKB/Swiss-Prot), Q9H8Y1 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTSRNQLVQKVLQELQEAVECEGLEGLIGASLEAKQVLSSFTLPTCREGGPGLQVLEVDSVALS
LYPEDAPRNMLPLVCKGEGSLLFEAASMLLWGDAGLSLELRARTVVEMLLHRHYYLQGMIDSKV
MLQAVRYSLCSEESPEMTSLPPATLEAIFDADVKASCFPSSFSNVWHLYALASVLQRNIYSIYP
MRNLKIRPYFNRVIRPRRCDHVPSTLHIMWAGQPLTSHFFRHQYFAPVVGLEEVEAEGAPGVAP
ALPALAPLSSPAKTLELLNREPGLSYSHLCERYSVTKSTFYRWRRQSQEHRQKVAARFSAKHFL
QDSFHRGGVVPLQQFLQRFPEISRSTYYAWKHELLGSGTCPALPPREVLGMEELEKLPEEQVAE
EELECSALAVSSPGMVLMQRAKLYLEHCISLNTLVPYRCFKRRFPGISRSTYYNWRRKALRRNP
SFKPAPALSAAGTPQLASVGEGAVIPWKSEAEEGAGNATGEDPPAPGELLPLRMPLSRWQRRLR
RAARRQVLSGHLPFCRFRLRYPSLSPSAFWVWKSLARGWPRGLSKLQVPVPTLGKGGQEAEEKQ
EKEAGRDVTAVMAPPVGASSEDVEGGPSREGALQEGATAQGQPHSGPLLSQPVVAAAGGRDGRM
LVMDMIATTKFKAQAKLFLQKRFQSKSFPSYKEFSALFPLTARSTYYMWKRALYDGLTLVDG

hide sequence

RefSeq Acc Id:	XP_011535213 ⟸ XM_011536911
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVC7 (UniProtKB/Swiss-Prot), Q9H8Y1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTSRNQLVQKVLQELQEAVECEGLEGLIGASLEAKQVLSSFTLPTCREGGPGLQVLEVDSVALS LYPEDAPRNMLPLVCKGEGSLLFEAASMLLWGDAGLSLELRARTVVEMLLHRHYYLQGMIDSKV MLQAVRYSLCSEESPEMTSLPPATLEAIFDADVKASCFPSSFSNVWHLYALASVLQRNIYSIYP MRNLKIRPYFNRVIRPRRCDHVPSTLHIMWAGQPLTSHFFRHQYFAPVVGLEEVEAEGAPGVAP ALPALAPLSSPAKTLELLNREPGLSYSHLCERYSVTKSTFYRWRRQSQEHRQKVAARFSAKHFL QDSFHRGGVVPLQQFLQRFPEISRSTYYAWKHELLGSGTCPALPPREVLGMEELEKLPEEQVAE EELECSALAVSSPGMVLMQRAKLYLEHCISLNTLVPYRCFKRRFPGISRSTYYNWRRKALRRNP SFKPAPALSAAGTPQLASVGEGAVIPWKSEAEEGAGNATGEDPPAPGELLPLRMPLSRWQRRLR RAARRQVLSGHLPFCRFRLRYPSLSPSAFWVWKSLARGWPRGLSKLQVPVPTLGKGGQEAEEKQ EKEAGRDVTAVMAPPVGASSEDVEGGPSREGALQEGATAQGQPHSGPLLSQPVVAAAGGRDGRM LVMDMIATTKFKAQAKLFLQKRFQSKSFPSYKEFSALFPLTARSTYYMWKRALYDGLTLVDG hide sequence

RefSeq Acc Id:

ENSP00000452158 ⟸ ENST00000557177

RefSeq Acc Id:

ENSP00000256362 ⟸ ENST00000256362

RefSeq Acc Id:	XP_054232280 ⟸ XM_054376305
- Peptide Label:	isoform X1
- UniProtKB:	Q9H8Y1 (UniProtKB/Swiss-Prot), Q9NVC7 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H8Y1-F1-model_v2	AlphaFold	Q9H8Y1	1-702	view protein structure

Promoters

RGD ID:

7228137

Promoter ID:

EPDNEW_H19813

Type:

initiation region

Name:

VRTN_1

Description:

vertebrae development associated

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	74,348,471 - 74,348,531	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20223	AgrOrtholog
COSMIC	VRTN	COSMIC
Ensembl Genes	ENSG00000133980	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000256362	ENTREZGENE
	ENST00000256362.5	UniProtKB/Swiss-Prot
	ENST00000557177.1	UniProtKB/TrEMBL
GTEx	ENSG00000133980	GTEx
HGNC ID	HGNC:20223	ENTREZGENE
Human Proteome Map	VRTN	Human Proteome Map
InterPro	Trp_repressor/repl_initiator	UniProtKB/Swiss-Prot
	Vertnin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VRTN_OTU_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:55237	UniProtKB/Swiss-Prot
NCBI Gene	55237	ENTREZGENE
OMIM	620468	OMIM
PANTHER	PTHR16081	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VERTNIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134899928	PharmGKB
Superfamily-SCOP	SSF48295	UniProtKB/Swiss-Prot
UniProt	G3V537_HUMAN	UniProtKB/TrEMBL
	Q9H8Y1	ENTREZGENE
	Q9NVC7	ENTREZGENE
	VRTN_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q9NVC7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-12-12	VRTN	vertebrae development associated		vertebrae development homolog (pig)	Symbol and/or name change	5135510	APPROVED
2011-07-27	VRTN	vertebrae development homolog (pig)	C14orf115	chromosome 14 open reading frame 115	Symbol and/or name change	5135510	APPROVED

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

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

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

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar