IGSF11 (immunoglobulin superfamily member 11) - Rat Genome Database

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Gene: IGSF11 (immunoglobulin superfamily member 11) Homo sapiens
Analyze
Symbol: IGSF11
Name: immunoglobulin superfamily member 11
RGD ID: 1318715
HGNC Page HGNC:16669
Description: Enables ionotropic glutamate receptor binding activity. Involved in homophilic cell adhesion via plasma membrane adhesion molecules. Located in cell-cell junction.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: brain and testis-specific immunoglobin superfamily protein; brain and testis-specific immunoglobulin superfamily protein; BT-IgSF; BTIGSF; cancer/testis antigen 119; CT119; CXADR like 1; CXADRL1; Igsf13; immunoglobulin superfamily, member 11; MGC35227; V-set and immunoglobulin domain containing 3; V-set and immunoglobulin domain-containing protein 3; VSIG3
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
GRCh383118,900,557 - 119,146,020 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3118,900,557 - 119,146,068 (-)EnsemblGRCh38hg38GRCh38
GRCh373118,619,404 - 118,864,867 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,102,167 - 120,347,588 (-)NCBINCBI36Build 36hg18NCBI36
Build 343120,103,690 - 120,347,381NCBI
Celera3117,027,981 - 117,273,390 (-)NCBICelera
Cytogenetic Map3q13.32NCBI
HuRef3115,994,852 - 116,240,345 (-)NCBIHuRef
CHM1_13118,582,961 - 118,828,367 (-)NCBICHM1_1
T2T-CHM13v2.03121,620,300 - 121,865,755 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cyclosporin A  (EXP)
dorsomorphin  (EXP)
emodin  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
etoposide  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
mercaptopurine  (ISO)
methapyrilene  (EXP,ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
purine-6-thiol  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

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:12207903   PMID:12477932   PMID:12851705   PMID:12975309   PMID:14702039   PMID:15795899   PMID:16108831   PMID:21873635   PMID:21982860   PMID:22952603   PMID:23251661   PMID:23376485  
PMID:24023788   PMID:25231870   PMID:26595655   PMID:30220083   PMID:32296183   PMID:33841409   PMID:34491997  


Genomics

Comparative Map Data
IGSF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383118,900,557 - 119,146,020 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3118,900,557 - 119,146,068 (-)EnsemblGRCh38hg38GRCh38
GRCh373118,619,404 - 118,864,867 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,102,167 - 120,347,588 (-)NCBINCBI36Build 36hg18NCBI36
Build 343120,103,690 - 120,347,381NCBI
Celera3117,027,981 - 117,273,390 (-)NCBICelera
Cytogenetic Map3q13.32NCBI
HuRef3115,994,852 - 116,240,345 (-)NCBIHuRef
CHM1_13118,582,961 - 118,828,367 (-)NCBICHM1_1
T2T-CHM13v2.03121,620,300 - 121,865,755 (-)NCBIT2T-CHM13v2.0
Igsf11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391638,712,840 - 38,847,521 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1638,713,033 - 38,847,521 (+)EnsemblGRCm39 Ensembl
GRCm381638,892,476 - 39,027,159 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1638,892,671 - 39,027,159 (+)EnsemblGRCm38mm10GRCm38
MGSCv371638,902,458 - 39,027,272 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361638,821,677 - 38,946,491 (+)NCBIMGSCv36mm8
Celera1639,299,325 - 39,427,101 (+)NCBICelera
Cytogenetic Map16B4NCBI
cM Map1626.87NCBI
Igsf11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81175,238,706 - 75,389,748 (-)NCBIGRCr8
mRatBN7.21161,733,139 - 61,884,059 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1161,733,144 - 61,868,348 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1170,545,627 - 70,680,918 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01163,207,868 - 63,343,161 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01162,267,118 - 62,402,287 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01164,286,691 - 64,421,248 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1164,286,694 - 64,421,248 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01167,664,964 - 67,819,751 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,501,592 - 63,640,441 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11163,559,183 - 63,698,030 (-)NCBI
Celera1161,239,980 - 61,376,445 (-)NCBICelera
Cytogenetic Map11q21NCBI
Igsf11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542718,696,888 - 18,716,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542718,698,774 - 18,716,669 (-)NCBIChiLan1.0ChiLan1.0
IGSF11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22116,654,937 - 117,118,355 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13116,659,715 - 117,123,133 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03116,033,187 - 116,153,134 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13122,946,368 - 123,143,485 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3122,948,246 - 122,972,742 (-)Ensemblpanpan1.1panPan2
IGSF11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13322,641,370 - 22,825,973 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3322,641,648 - 22,840,745 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3322,672,401 - 22,857,892 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03322,879,886 - 23,063,960 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3322,879,886 - 23,078,732 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13322,682,795 - 22,867,083 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03322,720,335 - 22,904,560 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03323,287,228 - 23,471,806 (-)NCBIUU_Cfam_GSD_1.0
Igsf11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602131,383,976 - 131,574,044 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365365,949,780 - 6,090,199 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365365,947,915 - 6,090,004 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGSF11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13141,093,021 - 141,289,496 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113141,148,489 - 141,289,504 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213150,586,617 - 150,616,187 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IGSF11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12261,708,162 - 61,916,802 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2261,797,938 - 61,916,787 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041104,425,302 - 104,449,617 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Igsf11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473129,109,879 - 29,276,256 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473129,109,803 - 29,272,322 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGSF11
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
NM_001015887.1(IGSF11):c.424+1005G>A single nucleotide variant Lung cancer [RCV000092836] Chr3:118927504 [GRCh38]
Chr3:118646351 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.1(IGSF11):c.52+48863A>T single nucleotide variant Lung cancer [RCV000092837] Chr3:118985668 [GRCh38]
Chr3:118704515 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_152538.2(IGSF11):c.-142-13462G>T single nucleotide variant Lung cancer [RCV000092838] Chr3:119126240 [GRCh38]
Chr3:118845087 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4 copy number gain See cases [RCV000135591] Chr3:117844958..120797026 [GRCh38]
Chr3:117563805..120515873 [GRCh37]
Chr3:119046495..121998563 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1
pathogenic
GRCh38/hg38 3q13.31-13.32(chr3:116366433-119033600)x3 copy number gain See cases [RCV000138196] Chr3:116366433..119033600 [GRCh38]
Chr3:116085280..118752447 [GRCh37]
Chr3:117567970..120235137 [NCBI36]
Chr3:3q13.31-13.32
uncertain significance
GRCh38/hg38 3q13.32(chr3:119033541-119081373)x4 copy number gain See cases [RCV000134263] Chr3:119033541..119081373 [GRCh38]
Chr3:118752388..118800220 [GRCh37]
Chr3:120235078..120282910 [NCBI36]
Chr3:3q13.32
benign|likely benign|conflicting data from submitters
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32(chr3:119016439-119098881)x3 copy number gain See cases [RCV000142846] Chr3:119016439..119098881 [GRCh38]
Chr3:118735286..118817728 [GRCh37]
Chr3:120217976..120300418 [NCBI36]
Chr3:3q13.32
likely benign
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
GRCh38/hg38 3q13.32(chr3:119059834-119081373)x4 copy number gain See cases [RCV000141024] Chr3:119059834..119081373 [GRCh38]
Chr3:118778681..118800220 [GRCh37]
Chr3:120261371..120282910 [NCBI36]
Chr3:3q13.32
benign|likely benign|conflicting data from submitters
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 copy number gain See cases [RCV000142877] Chr3:117844958..120826621 [GRCh38]
Chr3:117563805..120545468 [GRCh37]
Chr3:119046495..122028158 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
NM_001015887.3(IGSF11):c.4A>C (p.Thr2Pro) single nucleotide variant not specified [RCV004308158] Chr3:119034579 [GRCh38]
Chr3:118753426 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.877T>G (p.Cys293Gly) single nucleotide variant not specified [RCV004325588] Chr3:118902939 [GRCh38]
Chr3:118621786 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001015887.3(IGSF11):c.959G>A (p.Arg320Gln) single nucleotide variant not specified [RCV004285688] Chr3:118902857 [GRCh38]
Chr3:118621704 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
GRCh37/hg19 3q13.32(chr3:118733449-118963249)x4 copy number gain not provided [RCV001259227] Chr3:118733449..118963249 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1 copy number loss not provided [RCV002473909] Chr3:116109191..120328013 [GRCh37]
Chr3:3q13.31-13.33
uncertain significance
NM_001015887.3(IGSF11):c.749G>A (p.Gly250Asp) single nucleotide variant not specified [RCV004132690] Chr3:118904753 [GRCh38]
Chr3:118623600 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.259C>T (p.Arg87Trp) single nucleotide variant not specified [RCV004226268] Chr3:118928674 [GRCh38]
Chr3:118647521 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.607C>T (p.Arg203Trp) single nucleotide variant not specified [RCV004130192] Chr3:118905692 [GRCh38]
Chr3:118624539 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1040T>A (p.Phe347Tyr) single nucleotide variant not specified [RCV004209544] Chr3:118902776 [GRCh38]
Chr3:118621623 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1247C>T (p.Ala416Val) single nucleotide variant not specified [RCV004155858] Chr3:118902569 [GRCh38]
Chr3:118621416 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1058A>T (p.Asn353Ile) single nucleotide variant not specified [RCV004135345] Chr3:118902758 [GRCh38]
Chr3:118621605 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1094T>C (p.Val365Ala) single nucleotide variant not specified [RCV004177228] Chr3:118902722 [GRCh38]
Chr3:118621569 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1187C>T (p.Pro396Leu) single nucleotide variant not specified [RCV004127545] Chr3:118902629 [GRCh38]
Chr3:118621476 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1253C>G (p.Pro418Arg) single nucleotide variant not specified [RCV004179204] Chr3:118902563 [GRCh38]
Chr3:118621410 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2
pathogenic
NM_001015887.3(IGSF11):c.857A>G (p.Glu286Gly) single nucleotide variant not specified [RCV004344750] Chr3:118902959 [GRCh38]
Chr3:118621806 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh37/hg19 3q13.32(chr3:118492749-118701039)x1 copy number loss not provided [RCV003485400] Chr3:118492749..118701039 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh37/hg19 3q13.32-13.33(chr3:118192230-119100216)x3 copy number gain not provided [RCV003484142] Chr3:118192230..119100216 [GRCh37]
Chr3:3q13.32-13.33
uncertain significance
GRCh37/hg19 3q13.31-13.32(chr3:116078376-118754726)x1 copy number loss not specified [RCV003986448] Chr3:116078376..118754726 [GRCh37]
Chr3:3q13.31-13.32
uncertain significance
NM_001015887.3(IGSF11):c.802T>C (p.Trp268Arg) single nucleotide variant not specified [RCV004402722] Chr3:118904700 [GRCh38]
Chr3:118623547 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.974A>G (p.Asn325Ser) single nucleotide variant not specified [RCV004402723] Chr3:118902842 [GRCh38]
Chr3:118621689 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1240A>T (p.Ile414Phe) single nucleotide variant not specified [RCV004402718] Chr3:118902576 [GRCh38]
Chr3:118621423 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.157A>G (p.Ile53Val) single nucleotide variant not specified [RCV004627843] Chr3:118930171 [GRCh38]
Chr3:118649018 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.490C>T (p.Leu164Phe) single nucleotide variant not specified [RCV004627844] Chr3:118926191 [GRCh38]
Chr3:118645038 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.944A>G (p.Asn315Ser) single nucleotide variant not specified [RCV004627845] Chr3:118902872 [GRCh38]
Chr3:118621719 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.781A>C (p.Ile261Leu) single nucleotide variant not specified [RCV004627847] Chr3:118904721 [GRCh38]
Chr3:118623568 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.389G>A (p.Gly130Asp) single nucleotide variant not specified [RCV004626366] Chr3:118928544 [GRCh38]
Chr3:118647391 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.1135G>A (p.Gly379Arg) single nucleotide variant not specified [RCV004626367] Chr3:118902681 [GRCh38]
Chr3:118621528 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.44C>T (p.Ser15Phe) single nucleotide variant not specified [RCV004402720] Chr3:119034539 [GRCh38]
Chr3:118753386 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh37/hg19 3q13.32(chr3:118730933-118812889)x3 copy number gain not provided [RCV000742710] Chr3:118730933..118812889 [GRCh37]
Chr3:3q13.32
benign
GRCh37/hg19 3q13.32(chr3:118731305-118824418)x3 copy number gain not provided [RCV000742711] Chr3:118731305..118824418 [GRCh37]
Chr3:3q13.32
benign
NM_001015887.3(IGSF11):c.140C>T (p.Thr47Ile) single nucleotide variant not specified [RCV004106133] Chr3:118930188 [GRCh38]
Chr3:118649035 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.241A>G (p.Met81Val) single nucleotide variant not specified [RCV004085557] Chr3:118928692 [GRCh38]
Chr3:118647539 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_001015887.3(IGSF11):c.13C>T (p.Arg5Cys) single nucleotide variant not specified [RCV004402719] Chr3:119034570 [GRCh38]
Chr3:118753417 [GRCh37]
Chr3:3q13.32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3819
Count of miRNA genes:875
Interacting mature miRNAs:1016
Transcripts:ENST00000354673, ENST00000393775, ENST00000425327, ENST00000441144, ENST00000459718, ENST00000480431, ENST00000483401, ENST00000489689, ENST00000491903, ENST00000494802
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407249795GWAS898771_Hnose morphology measurement QTL GWAS898771 (human)0.000004nose morphology measurementnose measurement (CMO:0003147)3118937668118937669Human
407105733GWAS754709_Hself reported educational attainment QTL GWAS754709 (human)2e-08self reported educational attainment3118956349118956350Human
406957450GWAS606426_Hresponse to xenobiotic stimulus QTL GWAS606426 (human)0.000009response to xenobiotic stimulus3119027089119027090Human
406941521GWAS590497_Heducational attainment QTL GWAS590497 (human)3e-09educational attainment3118956897118956898Human
406941520GWAS590496_Heducational attainment QTL GWAS590496 (human)2e-09educational attainment3118901033118901034Human
407109877GWAS758853_Hself reported educational attainment QTL GWAS758853 (human)3e-09self reported educational attainment3118956349118956350Human
406991248GWAS640224_Hresponse to tenofovir, creatinine clearance measurement QTL GWAS640224 (human)0.000003response to tenofovir, creatinine clearance measurementcreatinine clearance (CMO:0000765)3119140849119140850Human
406941522GWAS590498_Heducational attainment QTL GWAS590498 (human)2e-11educational attainment3119052352119052353Human
407252018GWAS900994_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS900994 (human)4e-08schizophrenia, intelligence, self reported educational attainment3119038184119038185Human
406991159GWAS640135_Hresponse to tenofovir, creatinine clearance measurement QTL GWAS640135 (human)0.000001response to tenofovir, creatinine clearance measurementcreatinine clearance (CMO:0000765)3119121264119121265Human
406991287GWAS640263_Hresponse to tenofovir, creatinine clearance measurement QTL GWAS640263 (human)0.000001response to tenofovir, creatinine clearance measurementcreatinine clearance (CMO:0000765)3119132020119132021Human
407240595GWAS889571_Hbone density QTL GWAS889571 (human)5e-23bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)3119017514119017515Human
407079157GWAS728133_Hgut microbiome measurement QTL GWAS728133 (human)0.0000006gut microbiome measurement3119077643119077644Human
407010554GWAS659530_HAbnormality of refraction QTL GWAS659530 (human)6e-16Abnormality of refraction3119020989119020990Human
406991288GWAS640264_Hresponse to tenofovir, creatinine clearance measurement QTL GWAS640264 (human)0.000001response to tenofovir, creatinine clearance measurementcreatinine clearance (CMO:0000765)3119125638119125639Human
407249786GWAS898762_Hnose morphology measurement QTL GWAS898762 (human)2e-08nose morphology measurementnose measurement (CMO:0003147)3118937668118937669Human
407136697GWAS785673_Hhandedness QTL GWAS785673 (human)0.000002handedness3119006232119006233Human
406958430GWAS607406_Hmaximal midexpiratory flow rate QTL GWAS607406 (human)0.000004maximal midexpiratory flow ratemaximum mid-expiratory flow (MMEF) (CMO:0000253)3118957645118957646Human

Markers in Region
D3S3664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,674,007 - 118,674,254UniSTSGRCh37
Build 363120,156,697 - 120,156,944RGDNCBI36
Celera3117,082,509 - 117,082,756RGD
Cytogenetic Map3q13.32UniSTS
HuRef3116,049,406 - 116,049,653UniSTS
Marshfield Genetic Map3138.0RGD
Marshfield Genetic Map3138.0UniSTS
Genethon Genetic Map3140.0UniSTS
deCODE Assembly Map3126.59UniSTS
Whitehead-YAC Contig Map3 UniSTS
G20594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,619,545 - 118,619,746UniSTSGRCh37
Build 363120,102,235 - 120,102,436RGDNCBI36
Celera3117,028,049 - 117,028,250RGD
Cytogenetic Map3q13.32UniSTS
HuRef3115,994,920 - 115,995,121UniSTS
A005Y20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,619,545 - 118,619,746UniSTSGRCh37
Build 363120,102,235 - 120,102,436RGDNCBI36
Celera3117,028,049 - 117,028,250RGD
Cytogenetic Map3q13.32UniSTS
HuRef3115,994,920 - 115,995,121UniSTS
GeneMap99-GB4 RH Map3418.82UniSTS
RH94162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,666,007 - 118,666,176UniSTSGRCh37
Build 363120,148,697 - 120,148,866RGDNCBI36
Celera3117,074,510 - 117,074,679RGD
Cytogenetic Map3q13.32UniSTS
HuRef3116,041,407 - 116,041,576UniSTS
GeneMap99-GB4 RH Map3421.43UniSTS
NIB1484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,619,552 - 118,619,722UniSTSGRCh37
Build 363120,102,242 - 120,102,412RGDNCBI36
Celera3117,028,056 - 117,028,226RGD
Cytogenetic Map3q13.32UniSTS
HuRef3115,994,927 - 115,995,097UniSTS
GeneMap99-GB4 RH Map3418.82UniSTS
Whitehead-RH Map3529.0UniSTS
REN40251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,331,481 - 54,331,729UniSTSGRCh37
GRCh373118,719,218 - 118,719,469UniSTSGRCh37
Build 363120,201,908 - 120,202,159RGDNCBI36
Celera1434,381,189 - 34,381,437UniSTS
Celera3117,127,719 - 117,127,970RGD
Cytogenetic Map3q13.32UniSTS
HuRef1434,494,604 - 34,494,852UniSTS
HuRef3116,094,620 - 116,094,871UniSTS
REN90194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,849,204 - 118,849,454UniSTSGRCh37
GRCh37X153,899,221 - 153,899,472UniSTSGRCh37
Build 36X153,552,415 - 153,552,666RGDNCBI36
CeleraX154,057,302 - 154,057,553RGD
Celera3117,257,698 - 117,257,948UniSTS
Cytogenetic Map3q13.32UniSTS
HuRef3116,224,656 - 116,224,906UniSTS
HuRefX142,443,337 - 142,443,588UniSTS


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
visual system
1191 2315 2787 2228 4922 1549 2113 4 453 1266 294 2247 6312 5764 42 3695 807 1687 1553 169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001015887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA292896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB071618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB079879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI828564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ789642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354673   ⟹   ENSP00000346700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,900,636 - 119,105,221 (-)Ensembl
Ensembl Acc Id: ENST00000393775   ⟹   ENSP00000377370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,900,557 - 119,034,846 (-)Ensembl
Ensembl Acc Id: ENST00000425327   ⟹   ENSP00000406092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,900,557 - 119,146,068 (-)Ensembl
Ensembl Acc Id: ENST00000441144   ⟹   ENSP00000401240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,902,154 - 119,146,035 (-)Ensembl
Ensembl Acc Id: ENST00000459718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,925,923 - 118,930,253 (-)Ensembl
Ensembl Acc Id: ENST00000480431   ⟹   ENSP00000418047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,928,658 - 119,034,955 (-)Ensembl
Ensembl Acc Id: ENST00000483401   ⟹   ENSP00000418976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,928,578 - 119,013,237 (-)Ensembl
Ensembl Acc Id: ENST00000489689   ⟹   ENSP00000420486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,900,634 - 119,034,792 (-)Ensembl
Ensembl Acc Id: ENST00000491903   ⟹   ENSP00000417413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,902,391 - 119,034,728 (-)Ensembl
Ensembl Acc Id: ENST00000494802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3118,948,320 - 119,145,993 (-)Ensembl
RefSeq Acc Id: NM_001015887   ⟹   NP_001015887
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
GRCh373118,619,477 - 118,864,915 (-)NCBI
Build 363120,102,167 - 120,236,366 (-)NCBI Archive
Celera3117,027,981 - 117,273,390 (-)RGD
HuRef3115,994,852 - 116,240,345 (-)ENTREZGENE
CHM1_13118,582,961 - 118,717,177 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353318   ⟹   NP_001340247
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353319   ⟹   NP_001340248
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353320   ⟹   NP_001340249
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,146,020 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,865,755 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353321   ⟹   NP_001340250
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353322   ⟹   NP_001340251
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,146,020 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,865,755 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353323   ⟹   NP_001340252
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353324   ⟹   NP_001340253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353325   ⟹   NP_001340254
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353326   ⟹   NP_001340255
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,034,846 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,754,585 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152538   ⟹   NP_689751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383118,900,557 - 119,146,020 (-)NCBI
GRCh373118,619,477 - 118,864,915 (-)NCBI
Build 363120,102,167 - 120,347,588 (-)NCBI Archive
Celera3117,027,981 - 117,273,390 (-)RGD
HuRef3115,994,852 - 116,240,345 (-)ENTREZGENE
CHM1_13118,582,961 - 118,828,367 (-)NCBI
T2T-CHM13v2.03121,620,300 - 121,865,755 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001015887 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340247 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340248 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340249 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340250 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340251 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340252 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340253 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340254 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340255 (Get FASTA)   NCBI Sequence Viewer  
  NP_689751 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH34411 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88508 (Get FASTA)   NCBI Sequence Viewer  
  BAC05139 (Get FASTA)   NCBI Sequence Viewer  
  BAC07546 (Get FASTA)   NCBI Sequence Viewer  
  BAD90695 (Get FASTA)   NCBI Sequence Viewer  
  BAF85076 (Get FASTA)   NCBI Sequence Viewer  
  BAG53622 (Get FASTA)   NCBI Sequence Viewer  
  BAG59136 (Get FASTA)   NCBI Sequence Viewer  
  CAD38931 (Get FASTA)   NCBI Sequence Viewer  
  CAG24381 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43855 (Get FASTA)   NCBI Sequence Viewer  
  EAW79579 (Get FASTA)   NCBI Sequence Viewer  
  EAW79580 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000346700.2
  ENSP00000377370
  ENSP00000377370.2
  ENSP00000401240
  ENSP00000401240.2
  ENSP00000406092
  ENSP00000406092.2
  ENSP00000417413
  ENSP00000417413.1
  ENSP00000418047.1
  ENSP00000418976.1
  ENSP00000420486
  ENSP00000420486.1
GenBank Protein Q5DX21 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_689751   ⟸   NM_152538
- Peptide Label: isoform a precursor
- UniProtKB: Q5DX21 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001015887   ⟸   NM_001015887
- Peptide Label: isoform b precursor
- UniProtKB: Q8N7T8 (UniProtKB/Swiss-Prot),   Q8N4F1 (UniProtKB/Swiss-Prot),   C9JZN0 (UniProtKB/Swiss-Prot),   Q8NDD2 (UniProtKB/Swiss-Prot),   Q5DX21 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001340249   ⟸   NM_001353320
- Peptide Label: isoform a precursor
- Sequence:
RefSeq Acc Id: NP_001340251   ⟸   NM_001353322
- Peptide Label: isoform f precursor
- Sequence:
RefSeq Acc Id: NP_001340253   ⟸   NM_001353324
- Peptide Label: isoform h precursor
- Sequence:
RefSeq Acc Id: NP_001340250   ⟸   NM_001353321
- Peptide Label: isoform e precursor
- UniProtKB: C9JMW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340252   ⟸   NM_001353323
- Peptide Label: isoform g precursor
- UniProtKB: C9JBA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340255   ⟸   NM_001353326
- Peptide Label: isoform j
- Sequence:
RefSeq Acc Id: NP_001340254   ⟸   NM_001353325
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001340248   ⟸   NM_001353319
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001340247   ⟸   NM_001353318
- Peptide Label: isoform c
- Sequence:
Ensembl Acc Id: ENSP00000406092   ⟸   ENST00000425327
Ensembl Acc Id: ENSP00000417413   ⟸   ENST00000491903
Ensembl Acc Id: ENSP00000401240   ⟸   ENST00000441144
Ensembl Acc Id: ENSP00000418047   ⟸   ENST00000480431
Ensembl Acc Id: ENSP00000418976   ⟸   ENST00000483401
Ensembl Acc Id: ENSP00000377370   ⟸   ENST00000393775
Ensembl Acc Id: ENSP00000346700   ⟸   ENST00000354673
Ensembl Acc Id: ENSP00000420486   ⟸   ENST00000489689
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5DX21-F1-model_v2 AlphaFold Q5DX21 1-431 view protein structure

Promoters
RGD ID:6865322
Promoter ID:EPDNEW_H5826
Type:initiation region
Name:IGSF11_1
Description:immunoglobulin superfamily member 11
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
GRCh383119,034,792 - 119,034,852EPDNEW
RGD ID:6801149
Promoter ID:HG_KWN:45906
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001015887,   UC003EBX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363120,236,224 - 120,236,724 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16669 AgrOrtholog
COSMIC IGSF11 COSMIC
Ensembl Genes ENSG00000144847 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354673.6 UniProtKB/Swiss-Prot
  ENST00000393775 ENTREZGENE
  ENST00000393775.7 UniProtKB/Swiss-Prot
  ENST00000425327 ENTREZGENE
  ENST00000425327.6 UniProtKB/Swiss-Prot
  ENST00000441144 ENTREZGENE
  ENST00000441144.6 UniProtKB/Swiss-Prot
  ENST00000480431.5 UniProtKB/TrEMBL
  ENST00000483401.5 UniProtKB/TrEMBL
  ENST00000489689 ENTREZGENE
  ENST00000489689.5 UniProtKB/TrEMBL
  ENST00000491903 ENTREZGENE
  ENST00000491903.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000144847 GTEx
HGNC ID HGNC:16669 ENTREZGENE
Human Proteome Map IGSF11 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGSF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:152404 UniProtKB/Swiss-Prot
NCBI Gene 152404 ENTREZGENE
OMIM 608351 OMIM
PANTHER IMMUNOGLOBULIN SUPERFAMILY MEMBER 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR44699 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134939253 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9IZX3_HUMAN UniProtKB/TrEMBL
  C9JAD3_HUMAN UniProtKB/TrEMBL
  C9JBA5 ENTREZGENE, UniProtKB/TrEMBL
  C9JMW0 ENTREZGENE, UniProtKB/TrEMBL
  C9JZN0 ENTREZGENE
  IGS11_HUMAN UniProtKB/Swiss-Prot
  L8E968_HUMAN UniProtKB/TrEMBL
  Q5DX21 ENTREZGENE
  Q8N4F1 ENTREZGENE
  Q8N7T8 ENTREZGENE
  Q8NDD2 ENTREZGENE
UniProt Secondary C9JZN0 UniProtKB/Swiss-Prot
  Q8N4F1 UniProtKB/Swiss-Prot
  Q8N7T8 UniProtKB/Swiss-Prot
  Q8NDD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 IGSF11  immunoglobulin superfamily member 11  IGSF11  immunoglobulin superfamily, member 11  Symbol and/or name change 5135510 APPROVED
2015-11-24 IGSF11  immunoglobulin superfamily member 11    immunoglobulin superfamily, member 11  Symbol and/or name change 5135510 APPROVED
2011-09-01 IGSF11  immunoglobulin superfamily, member 11  IGSF11  immunoglobulin superfamily, member 11  Symbol and/or name change 5135510 APPROVED