VASN (vasorin) - Rat Genome Database

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Gene: VASN (vasorin) Homo sapiens
Analyze
Symbol: VASN
Name: vasorin
RGD ID: 1605593
HGNC Page HGNC:18517
Description: Enables transforming growth factor beta binding activity. Involved in negative regulation of epithelial to mesenchymal transition and negative regulation of transforming growth factor beta receptor signaling pathway. Located in cell surface and extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: slit-like 2; SLITL2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,371,848 - 4,383,538 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,371,848 - 4,383,538 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,421,849 - 4,433,539 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,361,850 - 4,373,530 (+)NCBINCBI36Build 36hg18NCBI36
Celera164,630,756 - 4,642,436 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,389,019 - 4,400,698 (+)NCBIHuRef
CHM1_1164,421,602 - 4,433,268 (+)NCBICHM1_1
T2T-CHM13v2.0164,401,028 - 4,412,717 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt atom  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dinophysistoxin 1  (EXP)
endosulfan  (ISO)
fenamidone  (ISO)
genistein  (EXP)
gentamycin  (ISO)
hydroquinone  (EXP)
inulin  (ISO)
isobutanol  (EXP)
lead(0)  (EXP)
Licochalcone B  (EXP)
menadione  (EXP)
methotrexate  (ISO)
niclosamide  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triclosan  (EXP)
troglitazone  (EXP)
Tungsten carbide  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15247411   PMID:15489334   PMID:16335952   PMID:17897319   PMID:19056867   PMID:21082674   PMID:21170088   PMID:21873635   PMID:22863883   PMID:22939629  
PMID:23376485   PMID:23533145   PMID:25416956   PMID:25468996   PMID:26157350   PMID:28514442   PMID:29198941   PMID:29507755   PMID:30252131   PMID:30745168   PMID:31215106   PMID:31505229  
PMID:31871319   PMID:32296183   PMID:32633347   PMID:33961781   PMID:35156780   PMID:35170203   PMID:35696571   PMID:35729462   PMID:37331376   PMID:37454705  


Genomics

Comparative Map Data
VASN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,371,848 - 4,383,538 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,371,848 - 4,383,538 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,421,849 - 4,433,539 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,361,850 - 4,373,530 (+)NCBINCBI36Build 36hg18NCBI36
Celera164,630,756 - 4,642,436 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,389,019 - 4,400,698 (+)NCBIHuRef
CHM1_1164,421,602 - 4,433,268 (+)NCBICHM1_1
T2T-CHM13v2.0164,401,028 - 4,412,717 (+)NCBIT2T-CHM13v2.0
Vasn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,457,809 - 4,469,030 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,457,805 - 4,468,666 (+)EnsemblGRCm39 Ensembl
GRCm38164,639,945 - 4,651,166 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,639,941 - 4,650,802 (+)EnsemblGRCm38mm10GRCm38
MGSCv37164,639,945 - 4,651,166 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,555,222 - 4,566,010 (+)NCBIMGSCv36mm8
Celera165,269,412 - 5,281,840 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.46NCBI
Vasn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,424,174 - 11,434,681 (-)NCBIGRCr8
mRatBN7.21010,917,750 - 10,928,259 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,917,605 - 10,928,357 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,626,434 - 15,636,959 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01015,115,254 - 15,125,777 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,784,386 - 10,794,916 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01011,121,041 - 11,131,548 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1011,121,041 - 11,131,548 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,886,399 - 9,896,906 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41011,047,084 - 11,057,591 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera109,880,012 - 9,890,519 (-)NCBICelera
Cytogenetic Map10q12NCBI
Vasn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544213,060,923 - 13,071,303 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544213,060,923 - 13,071,303 (-)NCBIChiLan1.0ChiLan1.0
VASN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2184,902,858 - 4,915,238 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1168,693,212 - 8,704,924 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,298,836 - 3,310,548 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,466,452 - 4,478,154 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,475,506 - 4,477,527 (+)Ensemblpanpan1.1panPan2
VASN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1637,014,704 - 37,025,734 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl637,015,333 - 37,017,351 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha638,343,008 - 38,354,053 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0637,219,012 - 37,230,058 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl637,219,014 - 37,230,061 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1637,013,260 - 37,024,304 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,906,434 - 36,917,479 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0637,307,717 - 37,318,765 (-)NCBIUU_Cfam_GSD_1.0
Vasn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,570,513 - 106,581,227 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936694128,273 - 138,954 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936694128,398 - 138,954 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VASN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,961,432 - 37,972,114 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,961,425 - 37,972,477 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2339,016,527 - 39,029,208 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VASN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,052,239 - 4,063,884 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606826,628,008 - 26,639,659 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vasn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,155,589 - 2,164,796 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,154,646 - 2,164,796 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VASN
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 copy number gain See cases [RCV000050956] Chr16:3710449..4644951 [GRCh38]
Chr16:3760450..4694952 [GRCh37]
Chr16:3700451..4634953 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1 copy number loss See cases [RCV000137768] Chr16:3820522..4668347 [GRCh38]
Chr16:3870523..4718348 [GRCh37]
Chr16:3810524..4658349 [NCBI36]
Chr16:16p13.3
pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 copy number gain See cases [RCV000142504] Chr16:3726702..4644961 [GRCh38]
Chr16:3776703..4694962 [GRCh37]
Chr16:3716704..4634963 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
NM_138440.3(VASN):c.641G>A (p.Arg214His) single nucleotide variant Inborn genetic diseases [RCV003301771] Chr16:4381518 [GRCh38]
Chr16:4431519 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_138440.3(VASN):c.1154C>T (p.Pro385Leu) single nucleotide variant Inborn genetic diseases [RCV003255013] Chr16:4382031 [GRCh38]
Chr16:4432032 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:4367730-4445327)x3 copy number gain not provided [RCV000751554] Chr16:4367730..4445327 [GRCh37]
Chr16:16p13.3
benign
NM_138440.3(VASN):c.1304G>T (p.Gly435Val) single nucleotide variant Inborn genetic diseases [RCV003244784] Chr16:4382181 [GRCh38]
Chr16:4432182 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.705C>T (p.Ile235=) single nucleotide variant not provided [RCV000883436] Chr16:4381582 [GRCh38]
Chr16:4431583 [GRCh37]
Chr16:16p13.3
benign
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:4382314-4511029)x1 copy number loss not provided [RCV000848810] Chr16:4382314..4511029 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.10:g.3619617_4448281del deletion See cases [RCV003313806] Chr16:3619617..4448281 [GRCh38]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3
pathogenic
NM_138440.3(VASN):c.890G>A (p.Arg297His) single nucleotide variant Inborn genetic diseases [RCV002990172] Chr16:4381767 [GRCh38]
Chr16:4431768 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.974A>G (p.Glu325Gly) single nucleotide variant Inborn genetic diseases [RCV002860062] Chr16:4381851 [GRCh38]
Chr16:4431852 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1276C>T (p.His426Tyr) single nucleotide variant Inborn genetic diseases [RCV002752119] Chr16:4382153 [GRCh38]
Chr16:4432154 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.253C>A (p.Gln85Lys) single nucleotide variant Inborn genetic diseases [RCV002685296] Chr16:4381130 [GRCh38]
Chr16:4431131 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1750G>A (p.Ala584Thr) single nucleotide variant Inborn genetic diseases [RCV002970513] Chr16:4382627 [GRCh38]
Chr16:4432628 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.602G>T (p.Gly201Val) single nucleotide variant Inborn genetic diseases [RCV002778268] Chr16:4381479 [GRCh38]
Chr16:4431480 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.538A>C (p.Ser180Arg) single nucleotide variant Inborn genetic diseases [RCV002689849] Chr16:4381415 [GRCh38]
Chr16:4431416 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.565C>G (p.Leu189Val) single nucleotide variant Inborn genetic diseases [RCV002821214] Chr16:4381442 [GRCh38]
Chr16:4431443 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1711G>A (p.Glu571Lys) single nucleotide variant Inborn genetic diseases [RCV002693356] Chr16:4382588 [GRCh38]
Chr16:4432589 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1394C>T (p.Thr465Ile) single nucleotide variant Inborn genetic diseases [RCV002660186] Chr16:4382271 [GRCh38]
Chr16:4432272 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.302A>T (p.Asn101Ile) single nucleotide variant Inborn genetic diseases [RCV002925177] Chr16:4381179 [GRCh38]
Chr16:4431180 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.410G>A (p.Arg137His) single nucleotide variant Inborn genetic diseases [RCV002707483] Chr16:4381287 [GRCh38]
Chr16:4431288 [GRCh37]
Chr16:16p13.3
likely benign
NM_138440.3(VASN):c.1461C>G (p.Ser487Arg) single nucleotide variant Inborn genetic diseases [RCV002887020] Chr16:4382338 [GRCh38]
Chr16:4432339 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1273C>T (p.Arg425Trp) single nucleotide variant Inborn genetic diseases [RCV003001276] Chr16:4382150 [GRCh38]
Chr16:4432151 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.412C>T (p.His138Tyr) single nucleotide variant Inborn genetic diseases [RCV002743209] Chr16:4381289 [GRCh38]
Chr16:4431290 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1862C>T (p.Pro621Leu) single nucleotide variant Inborn genetic diseases [RCV002713430] Chr16:4382739 [GRCh38]
Chr16:4432740 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.67G>A (p.Gly23Ser) single nucleotide variant Inborn genetic diseases [RCV002713661] Chr16:4380944 [GRCh38]
Chr16:4430945 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1908G>T (p.Lys636Asn) single nucleotide variant Inborn genetic diseases [RCV003004806] Chr16:4382785 [GRCh38]
Chr16:4432786 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.770C>T (p.Pro257Leu) single nucleotide variant Inborn genetic diseases [RCV002698749] Chr16:4381647 [GRCh38]
Chr16:4431648 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.992C>A (p.Pro331Gln) single nucleotide variant Inborn genetic diseases [RCV002930818] Chr16:4381869 [GRCh38]
Chr16:4431870 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.409C>T (p.Arg137Cys) single nucleotide variant Inborn genetic diseases [RCV002809265] Chr16:4381286 [GRCh38]
Chr16:4431287 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.646C>T (p.Arg216Cys) single nucleotide variant Inborn genetic diseases [RCV002648531] Chr16:4381523 [GRCh38]
Chr16:4431524 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1651G>A (p.Gly551Arg) single nucleotide variant Inborn genetic diseases [RCV002989609] Chr16:4382528 [GRCh38]
Chr16:4432529 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1606A>G (p.Met536Val) single nucleotide variant Inborn genetic diseases [RCV002670272] Chr16:4382483 [GRCh38]
Chr16:4432484 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.379G>C (p.Glu127Gln) single nucleotide variant Inborn genetic diseases [RCV002989706] Chr16:4381256 [GRCh38]
Chr16:4431257 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1624C>T (p.Arg542Trp) single nucleotide variant Inborn genetic diseases [RCV002655601] Chr16:4382501 [GRCh38]
Chr16:4432502 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1625G>A (p.Arg542Gln) single nucleotide variant Inborn genetic diseases [RCV002679183] Chr16:4382502 [GRCh38]
Chr16:4432503 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1385G>A (p.Arg462Gln) single nucleotide variant Inborn genetic diseases [RCV002655540] Chr16:4382262 [GRCh38]
Chr16:4432263 [GRCh37]
Chr16:16p13.3
likely benign
NM_138440.3(VASN):c.1432G>A (p.Val478Met) single nucleotide variant Inborn genetic diseases [RCV002656061] Chr16:4382309 [GRCh38]
Chr16:4432310 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.298G>A (p.Ala100Thr) single nucleotide variant Inborn genetic diseases [RCV003175006] Chr16:4381175 [GRCh38]
Chr16:4431176 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.469G>A (p.Asp157Asn) single nucleotide variant Inborn genetic diseases [RCV003197810] Chr16:4381346 [GRCh38]
Chr16:4431347 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1085G>A (p.Arg362Lys) single nucleotide variant Inborn genetic diseases [RCV003190364] Chr16:4381962 [GRCh38]
Chr16:4431963 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1216C>T (p.Pro406Ser) single nucleotide variant Inborn genetic diseases [RCV003205924] Chr16:4382093 [GRCh38]
Chr16:4432094 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1304G>C (p.Gly435Ala) single nucleotide variant Inborn genetic diseases [RCV003302431] Chr16:4382181 [GRCh38]
Chr16:4432182 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1198G>A (p.Val400Ile) single nucleotide variant Inborn genetic diseases [RCV003261639] Chr16:4382075 [GRCh38]
Chr16:4432076 [GRCh37]
Chr16:16p13.3
likely benign
NM_138440.3(VASN):c.907G>A (p.Val303Met) single nucleotide variant Inborn genetic diseases [RCV003340379] Chr16:4381784 [GRCh38]
Chr16:4431785 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1687C>T (p.His563Tyr) single nucleotide variant Inborn genetic diseases [RCV003381027] Chr16:4382564 [GRCh38]
Chr16:4432565 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1280A>G (p.His427Arg) single nucleotide variant Inborn genetic diseases [RCV003344735] Chr16:4382157 [GRCh38]
Chr16:4432158 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.865C>T (p.Arg289Cys) single nucleotide variant Inborn genetic diseases [RCV003386730] Chr16:4381742 [GRCh38]
Chr16:4431743 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1906A>G (p.Lys636Glu) single nucleotide variant Inborn genetic diseases [RCV003353882] Chr16:4382783 [GRCh38]
Chr16:4432784 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.1097G>A (p.Arg366Gln) single nucleotide variant Inborn genetic diseases [RCV003347054] Chr16:4381974 [GRCh38]
Chr16:4431975 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.445C>T (p.Arg149Cys) single nucleotide variant Inborn genetic diseases [RCV003354546] Chr16:4381322 [GRCh38]
Chr16:4431323 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_138440.3(VASN):c.442G>A (p.Asp148Asn) single nucleotide variant Inborn genetic diseases [RCV003375787] Chr16:4381319 [GRCh38]
Chr16:4431320 [GRCh37]
Chr16:16p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:389
Count of miRNA genes:322
Interacting mature miRNAs:341
Transcripts:ENST00000304735
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-56815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,433,268 - 4,433,430UniSTSGRCh37
Build 36164,373,269 - 4,373,431RGDNCBI36
Celera164,642,175 - 4,642,337RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,400,437 - 4,400,599UniSTS
TNG Radiation Hybrid Map162604.0UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 1723 1876 1584 578 410 425 3533 966 1451 383 1408 1468 164 1 1204 2056 5 2
Low 678 792 139 46 903 40 821 1225 2278 35 47 118 10 732 1
Below cutoff 29 323 570 1 3 5 1 3 20

Sequence


RefSeq Acc Id: ENST00000304735   ⟹   ENSP00000306864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,371,848 - 4,383,538 (+)Ensembl
RefSeq Acc Id: NM_138440   ⟹   NP_612449
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,371,848 - 4,383,538 (+)NCBI
GRCh37164,421,849 - 4,433,529 (+)RGD
Build 36164,361,850 - 4,373,530 (+)NCBI Archive
Celera164,630,756 - 4,642,436 (+)RGD
HuRef164,389,019 - 4,400,698 (+)RGD
CHM1_1164,421,602 - 4,433,268 (+)NCBI
T2T-CHM13v2.0164,401,028 - 4,412,717 (+)NCBI
Sequence:
RefSeq Acc Id: NP_612449   ⟸   NM_138440
- Peptide Label: precursor
- UniProtKB: Q6UXL5 (UniProtKB/Swiss-Prot),   Q6UXL4 (UniProtKB/Swiss-Prot),   Q96CX1 (UniProtKB/Swiss-Prot),   Q6EMK4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000306864   ⟸   ENST00000304735
Protein Domains
EGF-like   Fibronectin type-III   LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6EMK4-F1-model_v2 AlphaFold Q6EMK4 1-673 view protein structure

Promoters
RGD ID:6793591
Promoter ID:HG_KWN:22921
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_138440
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,361,046 - 4,361,897 (+)MPROMDB
RGD ID:6793592
Promoter ID:HG_KWN:22922
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010BTQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,370,591 - 4,372,882 (+)MPROMDB
RGD ID:7231203
Promoter ID:EPDNEW_H21346
Type:multiple initiation site
Name:VASN_1
Description:vasorin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,371,848 - 4,371,908EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18517 AgrOrtholog
COSMIC VASN COSMIC
Ensembl Genes ENSG00000168140 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000274334 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304735 ENTREZGENE
  ENST00000304735.4 UniProtKB/Swiss-Prot
  ENST00000622615.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  3.80.10.10 UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot
GTEx ENSG00000168140 GTEx
  ENSG00000274334 GTEx
HGNC ID HGNC:18517 ENTREZGENE
Human Proteome Map VASN Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
KEGG Report hsa:114990 UniProtKB/Swiss-Prot
NCBI Gene 114990 ENTREZGENE
OMIM 608843 OMIM
PANTHER ANTIGEN BSP, PUTATIVE-RELATED UniProtKB/Swiss-Prot
  VASORIN UniProtKB/Swiss-Prot
Pfam EGF UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA134974883 PharmGKB
PRINTS LEURICHRPT UniProtKB/Swiss-Prot
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  FN3 UniProtKB/Swiss-Prot
  LRR UniProtKB/Swiss-Prot
SMART EGF UniProtKB/Swiss-Prot
  LRR_BAC UniProtKB/Swiss-Prot
  LRR_SD22 UniProtKB/Swiss-Prot
  LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
  L domain-like UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
UniProt Q6EMK4 ENTREZGENE
  Q6UXL4 ENTREZGENE
  Q6UXL5 ENTREZGENE
  Q96CX1 ENTREZGENE
  VASN_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6UXL4 UniProtKB/Swiss-Prot
  Q6UXL5 UniProtKB/Swiss-Prot
  Q96CX1 UniProtKB/Swiss-Prot