VIL1 (villin 1) - Rat Genome Database

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Gene: VIL1 (villin 1) Homo sapiens
Analyze
Symbol: VIL1
Name: villin 1
RGD ID: 1316011
HGNC Page HGNC:12690
Description: Enables several functions, including actin filament binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including actin polymerization or depolymerization; regulation of actin filament organization; and regulation of cell morphogenesis. Located in several cellular components, including lamellipodium; microvillus; and ruffle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D2S1471; VIL; villin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,419,123 - 218,453,295 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,419,121 - 218,453,295 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,283,846 - 219,318,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,996,722 - 219,022,489 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,113,984 - 219,139,746NCBI
Celera2213,050,445 - 213,080,856 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,136,728 - 211,167,137 (+)NCBIHuRef
CHM1_12219,290,456 - 219,320,861 (+)NCBICHM1_1
T2T-CHM13v2.02218,905,241 - 218,939,415 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1961750   PMID:2846586   PMID:2892781   PMID:3453110   PMID:3510866   PMID:3793760   PMID:6893424   PMID:8125298   PMID:11500485   PMID:12445810   PMID:12477932   PMID:12937273  
PMID:14594952   PMID:15096633   PMID:15272027   PMID:15342556   PMID:15342783   PMID:15576363   PMID:16189514   PMID:16921170   PMID:17182858   PMID:17229814   PMID:17353931   PMID:17537734  
PMID:17606613   PMID:17847007   PMID:18029348   PMID:18054784   PMID:18307996   PMID:19056867   PMID:19371634   PMID:19377296   PMID:19808673   PMID:21492153   PMID:21623163   PMID:21654808  
PMID:21741320   PMID:21873635   PMID:22530999   PMID:23376485   PMID:23383273   PMID:23533167   PMID:24250806   PMID:24266897   PMID:25337239   PMID:25517957   PMID:25600187   PMID:26209609  
PMID:26334299   PMID:26344197   PMID:26537799   PMID:26658611   PMID:28514442   PMID:28536478   PMID:28704336   PMID:28832070   PMID:28902428   PMID:28953659   PMID:29274870   PMID:29676528  
PMID:30884312   PMID:32520642   PMID:32814053   PMID:33022573   PMID:33024199   PMID:33644029   PMID:33961781   PMID:34299191   PMID:35124280   PMID:35575683   PMID:35944360   PMID:36217030  
PMID:36244648   PMID:36877072   PMID:37704626  


Genomics

Comparative Map Data
VIL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,419,123 - 218,453,295 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,419,121 - 218,453,295 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,283,846 - 219,318,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,996,722 - 219,022,489 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,113,984 - 219,139,746NCBI
Celera2213,050,445 - 213,080,856 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,136,728 - 211,167,137 (+)NCBIHuRef
CHM1_12219,290,456 - 219,320,861 (+)NCBICHM1_1
T2T-CHM13v2.02218,905,241 - 218,939,415 (+)NCBIT2T-CHM13v2.0
Vil1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,448,543 - 74,474,719 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,448,535 - 74,474,718 (+)EnsemblGRCm39 Ensembl
GRCm38174,409,384 - 74,435,560 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,409,376 - 74,435,559 (+)EnsemblGRCm38mm10GRCm38
MGSCv37174,455,958 - 74,482,134 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,342,613 - 74,368,721 (+)NCBIMGSCv36mm8
Celera174,966,841 - 74,993,216 (+)NCBICelera
Cytogenetic Map1C3NCBI
cM Map138.54NCBI
Vil1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,440,248 - 83,467,963 (+)NCBIGRCr8
mRatBN7.2975,991,141 - 76,018,860 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl975,991,141 - 76,018,858 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,436,168 - 84,463,861 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0989,565,114 - 89,592,807 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0987,951,296 - 87,978,989 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0981,689,802 - 81,717,623 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl981,689,802 - 81,717,621 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,454,351 - 81,482,172 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4973,748,632 - 73,776,347 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1973,895,763 - 73,923,376 (+)NCBI
Celera973,564,428 - 73,592,138 (+)NCBICelera
Cytogenetic Map9q33NCBI
Vil1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,935,456 - 14,961,011 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,935,450 - 14,961,011 (-)NCBIChiLan1.0ChiLan1.0
VIL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,048,369 - 121,080,415 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,063,336 - 121,095,726 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B105,677,371 - 105,711,293 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,274,548 - 224,304,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,274,548 - 224,304,550 (+)Ensemblpanpan1.1panPan2
VIL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,065,887 - 25,090,238 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,065,180 - 25,090,705 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3725,885,686 - 25,911,804 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,081,617 - 25,107,747 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,080,855 - 25,106,518 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13724,986,923 - 25,013,216 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03724,920,579 - 24,946,677 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03724,940,950 - 24,966,867 (+)NCBIUU_Cfam_GSD_1.0
Vil1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303174,571,737 - 174,595,717 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936569914,512 - 938,608 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936569914,511 - 938,481 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VIL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15120,463,566 - 120,492,580 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115120,463,470 - 120,494,772 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215133,479,112 - 133,508,225 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VIL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,311,048 - 104,350,846 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,320,074 - 104,347,289 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604095,055,245 - 95,084,515 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vil1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248236,566,687 - 6,588,599 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248236,567,107 - 6,593,258 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VIL1
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_007127.2(VIL1):c.321C>T (p.Phe107=) single nucleotide variant Malignant melanoma [RCV000065417] Chr2:218425785 [GRCh38]
Chr2:219290508 [GRCh37]
Chr2:218998752 [NCBI36]
Chr2:2q35		 not provided
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219221864-219423299)x3 copy number gain Breast ductal adenocarcinoma [RCV000207108] Chr2:219221864..219423299 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
NM_007127.3(VIL1):c.684C>A (p.His228Gln) single nucleotide variant not provided [RCV004711046]|not specified [RCV000432970] Chr2:218429401 [GRCh38]
Chr2:219294124 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_007127.3(VIL1):c.14G>T (p.Ser5Ile) single nucleotide variant not specified [RCV004310880] Chr2:218423792 [GRCh38]
Chr2:219288515 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1514G>A (p.Arg505Gln) single nucleotide variant VIL1-related disorder [RCV003918100]|not provided [RCV000658900] Chr2:218434539 [GRCh38]
Chr2:219299262 [GRCh37]
Chr2:2q35		 benign|uncertain significance
GRCh37/hg19 2q35(chr2:219139778-219368933)x3 copy number gain not provided [RCV000682039] Chr2:219139778..219368933 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_007127.3(VIL1):c.2019C>T (p.Ala673=) single nucleotide variant not provided [RCV000967983] Chr2:218437171 [GRCh38]
Chr2:219301894 [GRCh37]
Chr2:2q35		 benign
NM_007127.3(VIL1):c.772G>C (p.Val258Leu) single nucleotide variant not provided [RCV000964626] Chr2:218429598 [GRCh38]
Chr2:219294321 [GRCh37]
Chr2:2q35		 benign
NM_007127.3(VIL1):c.1779C>A (p.Asn593Lys) single nucleotide variant not provided [RCV000964627] Chr2:218435387 [GRCh38]
Chr2:219300110 [GRCh37]
Chr2:2q35		 benign
NM_007127.3(VIL1):c.361G>T (p.Gly121Cys) single nucleotide variant not specified [RCV004291358] Chr2:218427978 [GRCh38]
Chr2:219292701 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:218271898-219825640) copy number gain not provided [RCV000767784] Chr2:218271898..219825640 [GRCh37]
Chr2:2q35		 likely pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_007127.3(VIL1):c.1888C>T (p.Arg630Cys) single nucleotide variant not provided [RCV000964719] Chr2:218436543 [GRCh38]
Chr2:219301266 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.718G>A (p.Val240Met) single nucleotide variant not specified [RCV004304603] Chr2:218429435 [GRCh38]
Chr2:219294158 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.419T>C (p.Leu140Pro) single nucleotide variant not specified [RCV004239787] Chr2:218428036 [GRCh38]
Chr2:219292759 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2179G>C (p.Asp727His) single nucleotide variant not specified [RCV004183913] Chr2:218438676 [GRCh38]
Chr2:219303399 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.485G>A (p.Arg162Gln) single nucleotide variant not specified [RCV004091126] Chr2:218428255 [GRCh38]
Chr2:219292978 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.599A>G (p.Gln200Arg) single nucleotide variant not specified [RCV004147524] Chr2:218429316 [GRCh38]
Chr2:219294039 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.296T>C (p.Val99Ala) single nucleotide variant not specified [RCV004199113] Chr2:218425760 [GRCh38]
Chr2:219290483 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1156G>A (p.Val386Met) single nucleotide variant not specified [RCV004193103] Chr2:218431910 [GRCh38]
Chr2:219296633 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.516G>T (p.Lys172Asn) single nucleotide variant not specified [RCV004184336] Chr2:218428286 [GRCh38]
Chr2:219293009 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.682C>T (p.His228Tyr) single nucleotide variant not specified [RCV004172270] Chr2:218429399 [GRCh38]
Chr2:219294122 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1396C>G (p.Leu466Val) single nucleotide variant not specified [RCV004148358] Chr2:218432847 [GRCh38]
Chr2:219297570 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1247A>G (p.Lys416Arg) single nucleotide variant not specified [RCV004213373] Chr2:218432089 [GRCh38]
Chr2:219296812 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.104G>A (p.Ser35Asn) single nucleotide variant not specified [RCV004099780] Chr2:218424305 [GRCh38]
Chr2:219289028 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.908C>T (p.Ala303Val) single nucleotide variant not specified [RCV004161418] Chr2:218429907 [GRCh38]
Chr2:219294630 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1735C>T (p.Arg579Trp) single nucleotide variant not specified [RCV004182757] Chr2:218435343 [GRCh38]
Chr2:219300066 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.724G>A (p.Asp242Asn) single nucleotide variant not specified [RCV004188487] Chr2:218429441 [GRCh38]
Chr2:219294164 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1211G>A (p.Arg404His) single nucleotide variant not specified [RCV004599576] Chr2:218432053 [GRCh38]
Chr2:219296776 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2441G>A (p.Arg814Gln) single nucleotide variant not specified [RCV004093544] Chr2:218449293 [GRCh38]
Chr2:219314016 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2405T>C (p.Phe802Ser) single nucleotide variant not specified [RCV004174554] Chr2:218449257 [GRCh38]
Chr2:219313980 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1700G>A (p.Arg567Gln) single nucleotide variant not specified [RCV004196494] Chr2:218435308 [GRCh38]
Chr2:219300031 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1805C>A (p.Ala602Asp) single nucleotide variant not specified [RCV004238605] Chr2:218435413 [GRCh38]
Chr2:219300136 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.659C>T (p.Pro220Leu) single nucleotide variant not specified [RCV004221974] Chr2:218429376 [GRCh38]
Chr2:219294099 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1021G>A (p.Val341Ile) single nucleotide variant not specified [RCV004221009] Chr2:218430797 [GRCh38]
Chr2:219295520 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.605G>A (p.Arg202Gln) single nucleotide variant not specified [RCV004222621] Chr2:218429322 [GRCh38]
Chr2:219294045 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.593G>A (p.Arg198Gln) single nucleotide variant not specified [RCV004074567] Chr2:218429310 [GRCh38]
Chr2:219294033 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2093T>C (p.Val698Ala) single nucleotide variant not specified [RCV004259250] Chr2:218437245 [GRCh38]
Chr2:219301968 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1441A>G (p.Met481Val) single nucleotide variant not specified [RCV004268580] Chr2:218432892 [GRCh38]
Chr2:219297615 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.939C>A (p.Ser313Arg) single nucleotide variant not specified [RCV004267163] Chr2:218429938 [GRCh38]
Chr2:219294661 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.493G>A (p.Val165Ile) single nucleotide variant not specified [RCV004256131] Chr2:218428263 [GRCh38]
Chr2:219292986 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_007127.3(VIL1):c.1580A>C (p.Asn527Thr) single nucleotide variant not specified [RCV004334691] Chr2:218434605 [GRCh38]
Chr2:219299328 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.985C>A (p.Gln329Lys) single nucleotide variant not specified [RCV004334854] Chr2:218430761 [GRCh38]
Chr2:219295484 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.932C>G (p.Ala311Gly) single nucleotide variant not specified [RCV004348860] Chr2:218429931 [GRCh38]
Chr2:219294654 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_007127.3(VIL1):c.1329C>T (p.Leu443=) single nucleotide variant VIL1-related disorder [RCV003952081] Chr2:218432171 [GRCh38]
Chr2:219296894 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.948+3A>T single nucleotide variant VIL1-related disorder [RCV003916818] Chr2:218429950 [GRCh38]
Chr2:219294673 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.274C>T (p.Arg92Trp) single nucleotide variant VIL1-related disorder [RCV003911697] Chr2:218425738 [GRCh38]
Chr2:219290461 [GRCh37]
Chr2:2q35		 benign
NM_007127.3(VIL1):c.75+8C>G single nucleotide variant VIL1-related disorder [RCV003924165] Chr2:218423861 [GRCh38]
Chr2:219288584 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.16G>A (p.Ala6Thr) single nucleotide variant VIL1-related disorder [RCV003961531] Chr2:218423794 [GRCh38]
Chr2:219288517 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.2229+8C>T single nucleotide variant VIL1-related disorder [RCV003924578]|not provided [RCV004711984] Chr2:218438734 [GRCh38]
Chr2:219303457 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.128G>A (p.Gly43Asp) single nucleotide variant VIL1-related disorder [RCV003962182] Chr2:218424329 [GRCh38]
Chr2:219289052 [GRCh37]
Chr2:2q35		 benign
NM_007127.3(VIL1):c.568-3C>T single nucleotide variant VIL1-related disorder [RCV003961669] Chr2:218429282 [GRCh38]
Chr2:219294005 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.1849A>G (p.Ile617Val) single nucleotide variant VIL1-related disorder [RCV003933841] Chr2:218436504 [GRCh38]
Chr2:219301227 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.1200G>A (p.Val400=) single nucleotide variant VIL1-related disorder [RCV003914386] Chr2:218431954 [GRCh38]
Chr2:219296677 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.1473C>T (p.Ile491=) single nucleotide variant VIL1-related disorder [RCV003969223] Chr2:218432924 [GRCh38]
Chr2:219297647 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.1051G>A (p.Ala351Thr) single nucleotide variant not specified [RCV004482424] Chr2:218430827 [GRCh38]
Chr2:219295550 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1052C>T (p.Ala351Val) single nucleotide variant not specified [RCV004482425] Chr2:218430828 [GRCh38]
Chr2:219295551 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.1221C>A (p.Asn407Lys) single nucleotide variant not specified [RCV004482426] Chr2:218432063 [GRCh38]
Chr2:219296786 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1249T>C (p.Trp417Arg) single nucleotide variant not specified [RCV004482427] Chr2:218432091 [GRCh38]
Chr2:219296814 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1642C>A (p.Leu548Ile) single nucleotide variant not specified [RCV004482428] Chr2:218434667 [GRCh38]
Chr2:219299390 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1820C>T (p.Thr607Ile) single nucleotide variant not specified [RCV004482429] Chr2:218435428 [GRCh38]
Chr2:219300151 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2081C>G (p.Pro694Arg) single nucleotide variant not specified [RCV004482431] Chr2:218437233 [GRCh38]
Chr2:219301956 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.352C>T (p.Arg118Trp) single nucleotide variant not specified [RCV004482435] Chr2:218427969 [GRCh38]
Chr2:219292692 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.659C>G (p.Pro220Arg) single nucleotide variant not specified [RCV004482437] Chr2:218429376 [GRCh38]
Chr2:219294099 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.749A>G (p.Lys250Arg) single nucleotide variant not specified [RCV004482438] Chr2:218429466 [GRCh38]
Chr2:219294189 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.755C>T (p.Ala252Val) single nucleotide variant not specified [RCV004482439] Chr2:218429472 [GRCh38]
Chr2:219294195 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2227G>A (p.Ala743Thr) single nucleotide variant not specified [RCV004482433] Chr2:218438724 [GRCh38]
Chr2:219303447 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.183C>A (p.Asp61Glu) single nucleotide variant not specified [RCV004482430] Chr2:218425647 [GRCh38]
Chr2:219290370 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2106C>T (p.His702=) single nucleotide variant not specified [RCV004482432] Chr2:218437258 [GRCh38]
Chr2:219301981 [GRCh37]
Chr2:2q35		 likely benign
NM_007127.3(VIL1):c.275G>A (p.Arg92Gln) single nucleotide variant not specified [RCV004482434] Chr2:218425739 [GRCh38]
Chr2:219290462 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1714A>G (p.Met572Val) single nucleotide variant not specified [RCV004681034] Chr2:218435322 [GRCh38]
Chr2:219300045 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1204G>C (p.Val402Leu) single nucleotide variant not specified [RCV004681035] Chr2:218432046 [GRCh38]
Chr2:219296769 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1108G>T (p.Val370Leu) single nucleotide variant not specified [RCV004681036] Chr2:218431862 [GRCh38]
Chr2:219296585 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2296A>G (p.Ile766Val) single nucleotide variant not specified [RCV004681037] Chr2:218440788 [GRCh38]
Chr2:219305511 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.1123T>G (p.Phe375Val) single nucleotide variant not specified [RCV004688624] Chr2:218431877 [GRCh38]
Chr2:219296600 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.2115dup (p.Thr706fs) duplication VIL1-related disorder [RCV004758319] Chr2:218437261..218437262 [GRCh38]
Chr2:219301984..219301985 [GRCh37]
Chr2:2q35		 uncertain significance
NM_007127.3(VIL1):c.241T>C (p.Tyr81His) single nucleotide variant VIL1-related disorder [RCV004730664] Chr2:218425705 [GRCh38]
Chr2:219290428 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3113
Count of miRNA genes:1081
Interacting mature miRNAs:1297
Transcripts:ENST00000248444, ENST00000392114, ENST00000419986, ENST00000440053, ENST00000454069
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406918883GWAS567859_Hbody height QTL GWAS567859 (human)1e-22body height (VT:0001253)body height (CMO:0000106)2218424176218424177Human
407196550GWAS845526_Hglomerular filtration rate QTL GWAS845526 (human)7e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)2218421818218421819Human
407318788GWAS967764_Hglomerular filtration rate QTL GWAS967764 (human)7e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)2218419492218419493Human
407238976GWAS887952_Hsex hormone-binding globulin measurement QTL GWAS887952 (human)6e-10sex hormone-binding globulin measurement2218422553218422554Human
406991588GWAS640564_Hsex hormone-binding globulin measurement QTL GWAS640564 (human)5e-14sex hormone-binding globulin measurement2218422553218422554Human
406993802GWAS642778_Hbody height QTL GWAS642778 (human)5e-10body height (VT:0001253)body height (CMO:0000106)2218419492218419493Human
407268554GWAS917530_HL-arginine measurement QTL GWAS917530 (human)6e-13L-arginine measurementblood arginine level (CMO:0003731)2218422553218422554Human
407321995GWAS970971_Htotal cholesterol measurement QTL GWAS970971 (human)1e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)2218437743218437744Human
407049358GWAS698334_Hsexual dimorphism measurement QTL GWAS698334 (human)2e-11sexual dimorphism measurement2218446792218446793Human
407322121GWAS971097_Htriglyceride measurement QTL GWAS971097 (human)1e-12triglyceride measurementblood triglyceride level (CMO:0000118)2218426758218426759Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
406958030GWAS607006_HNeonatal sepsis QTL GWAS607006 (human)0.000002Neonatal sepsis2218448631218448632Human
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
406987153GWAS636129_Hsex hormone-binding globulin measurement QTL GWAS636129 (human)0.000002sex hormone-binding globulin measurement2218422553218422554Human
407066832GWAS715808_Hglomerular filtration rate QTL GWAS715808 (human)4e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)2218421818218421819Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407254450GWAS903426_Hglomerular filtration rate QTL GWAS903426 (human)2e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)2218419492218419493Human
407085878GWAS734854_Hglomerular filtration rate QTL GWAS734854 (human)5e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)2218421818218421819Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407285915GWAS934891_Hblood urea nitrogen measurement QTL GWAS934891 (human)1e-14blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)2218419492218419493Human

Markers in Region
GDB:542905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,313,948 - 219,314,042UniSTSGRCh37
Build 362219,022,192 - 219,022,286RGDNCBI36
Celera2213,080,556 - 213,080,650RGD
Cytogenetic Map2q35UniSTS
HuRef2211,166,837 - 211,166,931UniSTS
VIL1_8718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,313,944 - 219,314,442UniSTSGRCh37
Build 362219,022,188 - 219,022,686RGDNCBI36
Celera2213,080,552 - 213,081,050RGD
HuRef2211,166,833 - 211,167,331UniSTS
D2S2722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,314,066 - 219,314,239UniSTSGRCh37
Build 362219,022,310 - 219,022,483RGDNCBI36
Celera2213,080,674 - 213,080,847RGD
Cytogenetic Map2q35UniSTS
HuRef2211,166,955 - 211,167,128UniSTS
TNG Radiation Hybrid Map2121356.0UniSTS
GeneMap99-GB4 RH Map2680.68UniSTS
Whitehead-RH Map21007.9UniSTS
NCBI RH Map21750.4UniSTS
GeneMap99-G3 RH Map29429.0UniSTS


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
963 2330 2475 1883 3800 1431 2015 4 589 1624 461 1997 6317 5369 29 2656 702 1539 1318 136

Sequence


Ensembl Acc Id: ENST00000248444   ⟹   ENSP00000248444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,419,123 - 218,453,295 (+)Ensembl
Ensembl Acc Id: ENST00000392114   ⟹   ENSP00000375962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,419,123 - 218,449,524 (+)Ensembl
Ensembl Acc Id: ENST00000419986   ⟹   ENSP00000394030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,432,515 - 218,436,587 (+)Ensembl
Ensembl Acc Id: ENST00000440053   ⟹   ENSP00000409270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,423,765 - 218,431,216 (+)Ensembl
Ensembl Acc Id: ENST00000454069   ⟹   ENSP00000412657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,419,121 - 218,428,255 (+)Ensembl
RefSeq Acc Id: NM_007127   ⟹   NP_009058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,419,123 - 218,453,295 (+)NCBI
GRCh372219,283,838 - 219,314,248 (+)ENTREZGENE
Build 362218,996,722 - 219,022,489 (+)NCBI Archive
HuRef2211,136,728 - 211,167,137 (+)ENTREZGENE
CHM1_12219,290,456 - 219,320,861 (+)NCBI
T2T-CHM13v2.02218,905,241 - 218,939,415 (+)NCBI
Sequence:
RefSeq Acc Id: NP_009058   ⟸   NM_007127
- UniProtKB: Q53S11 (UniProtKB/Swiss-Prot),   B2R9A7 (UniProtKB/Swiss-Prot),   Q96AC8 (UniProtKB/Swiss-Prot),   P09327 (UniProtKB/Swiss-Prot),   Q53F91 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000412657   ⟸   ENST00000454069
Ensembl Acc Id: ENSP00000409270   ⟸   ENST00000440053
Ensembl Acc Id: ENSP00000394030   ⟸   ENST00000419986
Ensembl Acc Id: ENSP00000248444   ⟸   ENST00000248444
Ensembl Acc Id: ENSP00000375962   ⟸   ENST00000392114
Protein Domains
Gelsolin-like   HP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09327-F1-model_v2 AlphaFold P09327 1-827 view protein structure

Promoters
RGD ID:6862816
Promoter ID:EPDNEW_H4573
Type:multiple initiation site
Name:VIL1_1
Description:villin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4574  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,419,123 - 218,419,183EPDNEW
RGD ID:6862818
Promoter ID:EPDNEW_H4574
Type:initiation region
Name:VIL1_2
Description:villin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,423,835 - 218,423,895EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12690 AgrOrtholog
COSMIC VIL1 COSMIC
Ensembl Genes ENSG00000127831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000248444 ENTREZGENE
  ENST00000248444.10 UniProtKB/Swiss-Prot
  ENST00000392114.6 UniProtKB/TrEMBL
  ENST00000419986.1 UniProtKB/TrEMBL
  ENST00000440053.1 UniProtKB/Swiss-Prot
  ENST00000454069.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.950.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127831 GTEx
HGNC ID HGNC:12690 ENTREZGENE
Human Proteome Map VIL1 Human Proteome Map
InterPro ADF-H/Gelsolin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gelsolin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gelsolin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Villin/Gelsolin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Villin_headpiece UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Villin_headpiece_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7429 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7429 ENTREZGENE
OMIM 193040 OMIM
PANTHER PTHR11977 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11977:SF35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gelsolin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VHP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37309 PharmGKB
PRINTS GELSOLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS51089 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VHP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Actin depolymerizing proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47050 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82754 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R9A7 ENTREZGENE
  B4DV78_HUMAN UniProtKB/TrEMBL
  C9J2B5_HUMAN UniProtKB/TrEMBL
  H7C0B6_HUMAN UniProtKB/TrEMBL
  P09327 ENTREZGENE
  Q53F91 ENTREZGENE, UniProtKB/TrEMBL
  Q53S11 ENTREZGENE
  Q96AC8 ENTREZGENE
  VILI_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R9A7 UniProtKB/Swiss-Prot
  Q53S11 UniProtKB/Swiss-Prot
  Q96AC8 UniProtKB/Swiss-Prot