GRAMD1B (GRAM domain containing 1B) - Rat Genome Database

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Gene: GRAMD1B (GRAM domain containing 1B) Homo sapiens
Analyze
Symbol: GRAMD1B
Name: GRAM domain containing 1B
RGD ID: 1606522
HGNC Page HGNC:29214
Description: Predicted to enable cholesterol binding activity; cholesterol transfer activity; and phospholipid binding activity. Predicted to be involved in cellular response to cholesterol; cholesterol homeostasis; and intracellular sterol transport. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Aster-B; GRAM domain-containing protein 1B; KIAA1201; LINC01059; long intergenic non-protein coding RNA 1059; MGC125622; MGC125623; MGC125625
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
GRCh3811123,358,422 - 123,627,767 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11123,358,428 - 123,627,774 (+)EnsemblGRCh38hg38GRCh38
GRCh3711123,229,130 - 123,498,475 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611122,901,738 - 122,998,728 (+)NCBINCBI36Build 36hg18NCBI36
Celera11120,555,834 - 120,652,938 (+)NCBICelera
Cytogenetic Map11q24.1NCBI
HuRef11119,338,151 - 119,434,725 (+)NCBIHuRef
CHM1_111123,282,733 - 123,379,717 (+)NCBICHM1_1
T2T-CHM13v2.011123,386,861 - 123,656,743 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574462   PMID:10737800   PMID:12107411   PMID:12477932   PMID:12975309   PMID:18758461   PMID:19946888   PMID:20332261   PMID:20639881   PMID:20731705   PMID:21873635   PMID:22700719  
PMID:23770605   PMID:24292274   PMID:25056061   PMID:26186194   PMID:28514442   PMID:29117863   PMID:29395067   PMID:29507755   PMID:29934528   PMID:30220461   PMID:30833792   PMID:31056421  
PMID:31177093   PMID:31586073   PMID:31719211   PMID:31871319   PMID:32707033   PMID:32738348   PMID:32788342   PMID:33604931   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35271311  
PMID:35384245   PMID:35394870   PMID:35696571   PMID:36736316   PMID:37774976  


Genomics

Comparative Map Data
GRAMD1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811123,358,422 - 123,627,767 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11123,358,428 - 123,627,774 (+)EnsemblGRCh38hg38GRCh38
GRCh3711123,229,130 - 123,498,475 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611122,901,738 - 122,998,728 (+)NCBINCBI36Build 36hg18NCBI36
Celera11120,555,834 - 120,652,938 (+)NCBICelera
Cytogenetic Map11q24.1NCBI
HuRef11119,338,151 - 119,434,725 (+)NCBIHuRef
CHM1_111123,282,733 - 123,379,717 (+)NCBICHM1_1
T2T-CHM13v2.011123,386,861 - 123,656,743 (+)NCBIT2T-CHM13v2.0
Gramd1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39940,204,529 - 40,443,656 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl940,204,529 - 40,442,679 (-)EnsemblGRCm39 Ensembl
GRCm38940,293,233 - 40,533,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl940,293,233 - 40,531,383 (-)EnsemblGRCm38mm10GRCm38
MGSCv37940,105,492 - 40,263,349 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36940,048,478 - 40,206,335 (-)NCBIMGSCv36mm8
Celera937,535,572 - 37,693,642 (-)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map921.42NCBI
Gramd1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8849,551,642 - 49,790,965 (-)NCBIGRCr8
mRatBN7.2840,654,492 - 40,893,869 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl840,659,182 - 40,893,925 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx846,166,864 - 46,328,739 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0844,445,439 - 44,607,322 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0842,313,034 - 42,474,910 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0844,160,634 - 44,399,110 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl844,165,367 - 44,327,551 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0861,200,537 - 61,378,124 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4843,260,379 - 43,429,258 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1843,269,194 - 43,443,238 (-)NCBI
Celera840,275,090 - 40,434,254 (-)NCBICelera
Cytogenetic Map8q22NCBI
Gramd1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541224,144,292 - 24,382,888 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541224,212,412 - 24,387,798 (+)NCBIChiLan1.0ChiLan1.0
GRAMD1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29124,059,509 - 124,329,943 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111125,164,078 - 125,427,741 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011118,191,126 - 118,459,439 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111122,108,954 - 122,376,188 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11122,180,541 - 122,371,035 (+)Ensemblpanpan1.1panPan2
GRAMD1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1510,809,493 - 10,982,266 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl510,814,512 - 10,976,833 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha510,865,472 - 11,032,585 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0510,759,703 - 10,927,233 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl510,759,703 - 10,996,098 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1510,863,815 - 11,031,256 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0510,794,377 - 10,961,649 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0510,840,820 - 11,008,361 (-)NCBIUU_Cfam_GSD_1.0
Gramd1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947104,921,976 - 105,160,552 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365428,036,207 - 8,076,592 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365427,910,789 - 8,081,653 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRAMD1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl950,335,062 - 50,505,129 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1950,259,020 - 50,507,328 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2955,641,619 - 55,795,671 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GRAMD1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11114,746,337 - 115,023,174 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1114,822,815 - 115,023,878 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604311,081,049 - 11,354,900 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gramd1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248801,525,448 - 1,787,054 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248801,520,450 - 1,703,352 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRAMD1B
74 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter) single nucleotide variant Intellectual disability [RCV001291084] Chr11:123594776 [GRCh38]
Chr11:123465484 [GRCh37]
Chr11:11q24.1
likely pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
NM_020716.2(GRAMD1B):c.952G>A (p.Glu318Lys) single nucleotide variant Malignant melanoma [RCV000069214] Chr11:123606666 [GRCh38]
Chr11:123477374 [GRCh37]
Chr11:122982584 [NCBI36]
Chr11:11q24.1
not provided
NC_000011.10:g.123435111C>T single nucleotide variant Lung cancer [RCV000109703] Chr11:123435111 [GRCh38]
Chr11:123305819 [GRCh37]
Chr11:11q24.1
uncertain significance
NC_000011.10:g.123467631A>G single nucleotide variant Lung cancer [RCV000109704] Chr11:123467631 [GRCh38]
Chr11:123338339 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001286563.1(GRAMD1B):c.24-1310C>A single nucleotide variant Lung cancer [RCV000109705] Chr11:123576057 [GRCh38]
Chr11:123446765 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q24.1(chr11:123486178-123569698)x3 copy number gain See cases [RCV000140059] Chr11:123486178..123569698 [GRCh38]
Chr11:123356886..123440406 [GRCh37]
Chr11:122862096..122945616 [NCBI36]
Chr11:11q24.1
likely benign
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3 copy number gain See cases [RCV000141175] Chr11:123543649..124802201 [GRCh38]
Chr11:123414357..124672097 [GRCh37]
Chr11:122919567..124177307 [NCBI36]
Chr11:11q24.1-24.2
uncertain significance
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1(chr11:123187564-123800140)x3 copy number gain See cases [RCV000143220] Chr11:123187564..123800140 [GRCh38]
Chr11:123058272..123670848 [GRCh37]
Chr11:122563482..123176058 [NCBI36]
Chr11:11q24.1
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
NC_000011.10:g.123379884A>C single nucleotide variant Lung cancer [RCV000109702] Chr11:123379884 [GRCh38]
Chr11:123250592 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1(chr11:123024300-123610766)x3 copy number gain See cases [RCV000446130] Chr11:123024300..123610766 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_001387025.1(GRAMD1B):c.2036C>G (p.Ala679Gly) single nucleotide variant not specified [RCV004312602] Chr11:123613467 [GRCh38]
Chr11:123484175 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_001387025.1(GRAMD1B):c.2109G>A (p.Thr703=) single nucleotide variant GRAMD1B-related disorder [RCV003943210]|not provided [RCV000971024] Chr11:123613540 [GRCh38]
Chr11:123484248 [GRCh37]
Chr11:11q24.1
benign|likely benign
NM_001387025.1(GRAMD1B):c.1314C>T (p.Ala438=) single nucleotide variant not provided [RCV000971389] Chr11:123605469 [GRCh38]
Chr11:123476177 [GRCh37]
Chr11:11q24.1
benign
NM_001387025.1(GRAMD1B):c.1245T>A (p.Asp415Glu) single nucleotide variant not provided [RCV000974314] Chr11:123605400 [GRCh38]
Chr11:123476108 [GRCh37]
Chr11:11q24.1
benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1(chr11:123183819-123462008)x3 copy number gain not provided [RCV000846050] Chr11:123183819..123462008 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1(chr11:123486666-123516620)x1 copy number loss not provided [RCV000846236] Chr11:123486666..123516620 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2287G>A (p.Val763Met) single nucleotide variant not specified [RCV004199370] Chr11:123614804 [GRCh38]
Chr11:123485512 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
Single allele duplication not provided [RCV002227754] Chr11:122413116..123669322 [GRCh38]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_001387025.1(GRAMD1B):c.575C>G (p.Ser192Cys) single nucleotide variant not specified [RCV004290643] Chr11:123577489 [GRCh38]
Chr11:123448197 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
NM_001387025.1(GRAMD1B):c.2113C>T (p.Arg705Trp) single nucleotide variant not specified [RCV004082388] Chr11:123613544 [GRCh38]
Chr11:123484252 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1465G>A (p.Glu489Lys) single nucleotide variant not specified [RCV004208572] Chr11:123606750 [GRCh38]
Chr11:123477458 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2108C>T (p.Thr703Met) single nucleotide variant not specified [RCV004218451] Chr11:123613539 [GRCh38]
Chr11:123484247 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1387G>A (p.Ala463Thr) single nucleotide variant not specified [RCV004074050] Chr11:123606672 [GRCh38]
Chr11:123477380 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1162A>G (p.Met388Val) single nucleotide variant not specified [RCV004150439] Chr11:123603537 [GRCh38]
Chr11:123474245 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1652T>A (p.Phe551Tyr) single nucleotide variant not specified [RCV004135343] Chr11:123608797 [GRCh38]
Chr11:123479505 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1630G>A (p.Asp544Asn) single nucleotide variant not specified [RCV004179580] Chr11:123608775 [GRCh38]
Chr11:123479483 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.926G>T (p.Arg309Leu) single nucleotide variant not specified [RCV004101471] Chr11:123595994 [GRCh38]
Chr11:123466702 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2204G>A (p.Gly735Asp) single nucleotide variant not specified [RCV004078834] Chr11:123613635 [GRCh38]
Chr11:123484343 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1363G>T (p.Asp455Tyr) single nucleotide variant not specified [RCV004157322] Chr11:123606648 [GRCh38]
Chr11:123477356 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2600C>T (p.Ser867Leu) single nucleotide variant not specified [RCV004082644] Chr11:123622561 [GRCh38]
Chr11:123493269 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2332G>T (p.Val778Phe) single nucleotide variant not specified [RCV004173910] Chr11:123618706 [GRCh38]
Chr11:123489414 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1727C>T (p.Thr576Ile) single nucleotide variant not specified [RCV004272058] Chr11:123609864 [GRCh38]
Chr11:123480572 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1202T>C (p.Val401Ala) single nucleotide variant not specified [RCV004312818] Chr11:123605357 [GRCh38]
Chr11:123476065 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1457A>G (p.Asn486Ser) single nucleotide variant not specified [RCV004255531] Chr11:123606742 [GRCh38]
Chr11:123477450 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1376A>G (p.Glu459Gly) single nucleotide variant not specified [RCV004316106] Chr11:123606661 [GRCh38]
Chr11:123477369 [GRCh37]
Chr11:11q24.1
uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25
pathogenic
NM_001387025.1(GRAMD1B):c.2241G>A (p.Thr747=) single nucleotide variant not provided [RCV003424869] Chr11:123614758 [GRCh38]
Chr11:123485466 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.1390A>G (p.Ile464Val) single nucleotide variant not provided [RCV003424868] Chr11:123606675 [GRCh38]
Chr11:123477383 [GRCh37]
Chr11:11q24.1
likely benign
GRCh37/hg19 11q24.1(chr11:123241505-123459790)x3 copy number gain not specified [RCV003986931] Chr11:123241505..123459790 [GRCh37]
Chr11:11q24.1
uncertain significance
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
NM_001387025.1(GRAMD1B):c.1777-5C>T single nucleotide variant GRAMD1B-related disorder [RCV003906780] Chr11:123610191 [GRCh38]
Chr11:123480899 [GRCh37]
Chr11:11q24.1
likely benign
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_001387025.1(GRAMD1B):c.1359G>A (p.Glu453=) single nucleotide variant GRAMD1B-related disorder [RCV003982540] Chr11:123606644 [GRCh38]
Chr11:123477352 [GRCh37]
Chr11:11q24.1
benign
NM_001387025.1(GRAMD1B):c.664-8C>T single nucleotide variant GRAMD1B-related disorder [RCV003979074] Chr11:123584304 [GRCh38]
Chr11:123455012 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.1854T>C (p.His618=) single nucleotide variant GRAMD1B-related disorder [RCV003979777] Chr11:123610273 [GRCh38]
Chr11:123480981 [GRCh37]
Chr11:11q24.1
benign
NM_001387025.1(GRAMD1B):c.1919+6G>A single nucleotide variant GRAMD1B-related disorder [RCV003981364] Chr11:123610344 [GRCh38]
Chr11:123481052 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.2597C>G (p.Thr866Arg) single nucleotide variant GRAMD1B-related disorder [RCV003954574] Chr11:123622558 [GRCh38]
Chr11:123493266 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.1397A>G (p.Asn466Ser) single nucleotide variant GRAMD1B-related disorder [RCV003924590] Chr11:123606682 [GRCh38]
Chr11:123477390 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.2269G>C (p.Gly757Arg) single nucleotide variant GRAMD1B-related disorder [RCV003929539] Chr11:123614786 [GRCh38]
Chr11:123485494 [GRCh37]
Chr11:11q24.1
benign
NM_001387025.1(GRAMD1B):c.2556G>A (p.Ser852=) single nucleotide variant GRAMD1B-related disorder [RCV003929551] Chr11:123622517 [GRCh38]
Chr11:123493225 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.1519G>A (p.Val507Ile) single nucleotide variant GRAMD1B-related disorder [RCV003904235] Chr11:123608664 [GRCh38]
Chr11:123479372 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.2286C>T (p.Ser762=) single nucleotide variant GRAMD1B-related disorder [RCV003911891] Chr11:123614803 [GRCh38]
Chr11:123485511 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.685-4G>A single nucleotide variant GRAMD1B-related disorder [RCV003973851] Chr11:123594078 [GRCh38]
Chr11:123464786 [GRCh37]
Chr11:11q24.1
benign
NM_001387025.1(GRAMD1B):c.2228-9T>C single nucleotide variant GRAMD1B-related disorder [RCV003982498] Chr11:123614736 [GRCh38]
Chr11:123485444 [GRCh37]
Chr11:11q24.1
benign
NM_001387025.1(GRAMD1B):c.2176G>C (p.Val726Leu) single nucleotide variant not specified [RCV004393558] Chr11:123613607 [GRCh38]
Chr11:123484315 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1628G>A (p.Arg543Gln) single nucleotide variant not specified [RCV004393551] Chr11:123608773 [GRCh38]
Chr11:123479481 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2042C>T (p.Thr681Met) single nucleotide variant not specified [RCV004393556] Chr11:123613473 [GRCh38]
Chr11:123484181 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2107A>G (p.Thr703Ala) single nucleotide variant not specified [RCV004393557] Chr11:123613538 [GRCh38]
Chr11:123484246 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.2566C>T (p.Leu856Phe) single nucleotide variant not specified [RCV004393560] Chr11:123622527 [GRCh38]
Chr11:123493235 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2035G>A (p.Ala679Thr) single nucleotide variant not specified [RCV004393555] Chr11:123613466 [GRCh38]
Chr11:123484174 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.1648C>T (p.Arg550Cys) single nucleotide variant not specified [RCV004393552] Chr11:123608793 [GRCh38]
Chr11:123479501 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.649G>A (p.Gly217Ser) single nucleotide variant not specified [RCV004393561] Chr11:123577563 [GRCh38]
Chr11:123448271 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.472C>G (p.Arg158Gly) single nucleotide variant not specified [RCV004393562] Chr11:123577386 [GRCh38]
Chr11:123448094 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1649G>A (p.Arg550His) single nucleotide variant not specified [RCV004393553] Chr11:123608794 [GRCh38]
Chr11:123479502 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1957G>T (p.Gly653Trp) single nucleotide variant not specified [RCV004393554] Chr11:123612798 [GRCh38]
Chr11:123483506 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2257G>A (p.Asp753Asn) single nucleotide variant not specified [RCV004393559] Chr11:123614774 [GRCh38]
Chr11:123485482 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1613A>G (p.Asn538Ser) single nucleotide variant not specified [RCV004632666] Chr11:123608758 [GRCh38]
Chr11:123479466 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1352C>T (p.Ala451Val) single nucleotide variant not specified [RCV004632662] Chr11:123606637 [GRCh38]
Chr11:123477345 [GRCh37]
Chr11:11q24.1
likely benign
NM_001387025.1(GRAMD1B):c.2531T>C (p.Met844Thr) single nucleotide variant not specified [RCV004632663] Chr11:123619211 [GRCh38]
Chr11:123489919 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.1228A>G (p.Ile410Val) single nucleotide variant not specified [RCV004632664] Chr11:123605383 [GRCh38]
Chr11:123476091 [GRCh37]
Chr11:11q24.1
uncertain significance
NM_001387025.1(GRAMD1B):c.2587C>G (p.Arg863Gly) single nucleotide variant not specified [RCV004632665] Chr11:123622548 [GRCh38]
Chr11:123493256 [GRCh37]
Chr11:11q24.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6296
Count of miRNA genes:1259
Interacting mature miRNAs:1657
Transcripts:ENST00000322282, ENST00000450171, ENST00000456860, ENST00000525945, ENST00000529432, ENST00000529750, ENST00000532581, ENST00000534764
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
407027521GWAS676497_Hchronic lymphocytic leukemia QTL GWAS676497 (human)3e-12chronic lymphocytic leukemia11123490689123490690Human
407028161GWAS677137_Hfree androgen index QTL GWAS677137 (human)7e-15free androgen index11123567410123567411Human
406990918GWAS639894_Hserum IgM measurement QTL GWAS639894 (human)1e-23serum IgM measurementserum immunoglobulin M level (CMO:0002104)11123490689123490690Human
407216707GWAS865683_Hgut microbiome measurement QTL GWAS865683 (human)5e-08gut microbiome measurement11123441355123441356Human
407292110GWAS941086_Hbody height QTL GWAS941086 (human)9e-18body height (VT:0001253)body height (CMO:0000106)11123549715123549716Human
406975691GWAS624667_Hbipolar disorder, schizophrenia, response to lithium ion QTL GWAS624667 (human)5e-08bipolar disorder, schizophrenia, response to lithium ion11123522138123522139Human
407292109GWAS941085_Hbody height QTL GWAS941085 (human)2e-12body height (VT:0001253)body height (CMO:0000106)11123373234123373235Human
406965453GWAS614429_Hchronic lymphocytic leukemia QTL GWAS614429 (human)4e-39chronic lymphocytic leukemia11123490689123490690Human
407134154GWAS783130_Hschizophrenia QTL GWAS783130 (human)4e-10schizophrenia11123523928123523929Human
407059789GWAS708765_Htestosterone measurement QTL GWAS708765 (human)1e-17testosterone measurementserum testosterone level (CMO:0000568)11123567410123567411Human
407220820GWAS869796_Hlymphocyte count QTL GWAS869796 (human)2e-15lymphocyte countblood lymphocyte count (CMO:0000031)11123473727123473728Human
407328086GWAS977062_Htestosterone measurement QTL GWAS977062 (human)5e-10testosterone measurementserum testosterone level (CMO:0000568)11123567410123567411Human
406998864GWAS647840_Hserum IgM measurement QTL GWAS647840 (human)4e-11serum IgM measurementserum immunoglobulin M level (CMO:0002104)11123484683123484684Human
407033172GWAS682148_Hchronic lymphocytic leukemia QTL GWAS682148 (human)2e-40chronic lymphocytic leukemia11123484683123484684Human
406888024GWAS537000_HHodgkins lymphoma, multiple myeloma, chronic lymphocytic leukemia QTL GWAS537000 (human)3e-14Hodgkins lymphoma, multiple myeloma, chronic lymphocytic leukemia11123524538123524539Human
407162968GWAS811944_Hschizophrenia QTL GWAS811944 (human)1e-09schizophrenia11123523928123523929Human
407136603GWAS785579_Hschizophrenia QTL GWAS785579 (human)2e-08schizophrenia11123525156123525157Human
407226080GWAS875056_HAL amyloidosis QTL GWAS875056 (human)0.000002AL amyloidosis11123369465123369466Human
407250915GWAS899891_Hacute myeloid leukemia QTL GWAS899891 (human)0.000007acute myeloid leukemia11123453880123453881Human
406948071GWAS597047_HHodgkins lymphoma, multiple myeloma, non-Hodgkins lymphoma QTL GWAS597047 (human)8e-13Hodgkins lymphoma, multiple myeloma, non-Hodgkins lymphoma11123484683123484684Human
407209315GWAS858291_Hschizophrenia QTL GWAS858291 (human)5e-08schizophrenia11123523928123523929Human
407404000GWAS1052976_Hurate measurement, bone density QTL GWAS1052976 (human)4e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)11123450222123450223Human
407004394GWAS653370_Hinterleukin 2 receptor antagonist measurement QTL GWAS653370 (human)0.000007interleukin 2 receptor antagonist measurement11123519517123519518Human
406927080GWAS576056_HAnti-Toxoplasma gondii IgG measurement QTL GWAS576056 (human)1e-12Anti-Toxoplasma gondii IgG measurement11123473727123473728Human
407028459GWAS677435_Htestosterone measurement QTL GWAS677435 (human)3e-20testosterone measurementserum testosterone level (CMO:0000568)11123567410123567411Human
407305064GWAS954040_Hschizophrenia QTL GWAS954040 (human)1e-10schizophrenia11123523928123523929Human
407307511GWAS956487_Hlymphocyte count QTL GWAS956487 (human)2e-17lymphocyte countblood lymphocyte count (CMO:0000031)11123473727123473728Human
407237233GWAS886209_Htestosterone measurement QTL GWAS886209 (human)0.0000004testosterone measurementserum testosterone level (CMO:0000568)11123454403123454404Human
407216624GWAS865600_Hresponse to peginterferon alfa-2a QTL GWAS865600 (human)0.000008response to peginterferon alfa-2a11123606644123606645Human
407314175GWAS963151_Hsphingomyelin measurement QTL GWAS963151 (human)2e-08sphingomyelin measurement11123542771123542772Human
406964600GWAS613576_Hchronic lymphocytic leukemia QTL GWAS613576 (human)4e-24chronic lymphocytic leukemia11123490689123490690Human
407155070GWAS804046_HR-6-hydroxywarfarin to R-warfarin ratio measurement QTL GWAS804046 (human)0.000006R-6-hydroxywarfarin to R-warfarin ratio measurement11123481473123481474Human
406995705GWAS644681_Htestosterone measurement QTL GWAS644681 (human)5e-18testosterone measurementserum testosterone level (CMO:0000568)11123566961123566962Human
406972543GWAS621519_Himmunoglobulin M measurement QTL GWAS621519 (human)2e-26blood immunoglobulin M amount (VT:0010481)blood immunoglobulin M level (CMO:0002092)11123473727123473728Human
407260793GWAS909769_Hschizophrenia QTL GWAS909769 (human)8e-12schizophrenia11123523928123523929Human
407143436GWAS792412_Hdiet measurement, bilirubin measurement QTL GWAS792412 (human)0.000008diet measurement, bilirubin measurementserum total bilirubin level (CMO:0000376)11123524762123524763Human
407213709GWAS862685_HHypermetropia, Myopia QTL GWAS862685 (human)0.000008Hypermetropia, Myopia11123550694123550695Human
407296908GWAS945884_Hschizophrenia QTL GWAS945884 (human)0.0000001schizophrenia11123523928123523929Human
406967181GWAS616157_Hchronic lymphocytic leukemia QTL GWAS616157 (human)4e-58chronic lymphocytic leukemia11123484683123484684Human
407317650GWAS966626_Htestosterone measurement QTL GWAS966626 (human)8e-11testosterone measurementserum testosterone level (CMO:0000568)11123567410123567411Human
407024020GWAS672996_Hchronic lymphocytic leukemia QTL GWAS672996 (human)4e-12chronic lymphocytic leukemia11123490689123490690Human
406978455GWAS627431_Heducational attainment QTL GWAS627431 (human)2e-08educational attainment11123550694123550695Human
407019033GWAS668009_Hlymphocyte percentage of leukocytes QTL GWAS668009 (human)1e-09lymphocyte percentage of leukocytesblood lymphocyte count to total leukocyte count ratio (CMO:0000371)11123473727123473728Human
406983193GWAS632169_Hlymphoid leukemia QTL GWAS632169 (human)3e-14lymphoid leukemia11123474251123474252Human
407024665GWAS673641_Hneoplasm of mature B-cells QTL GWAS673641 (human)4e-09neoplasm of mature B-cells11123490689123490690Human
407030425GWAS679401_Hchronic lymphocytic leukemia QTL GWAS679401 (human)5e-16chronic lymphocytic leukemia11123497625123497626Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
407124900GWAS773876_Hschizophrenia QTL GWAS773876 (human)8e-09schizophrenia11123523928123523929Human
407138981GWAS787957_Hresponse to bevacizumab, chemotherapy-induced hypertension QTL GWAS787957 (human)0.000001response to bevacizumab, chemotherapy-induced hypertension11123393934123393935Human
407006631GWAS655607_Htestosterone measurement QTL GWAS655607 (human)3e-08testosterone measurementserum testosterone level (CMO:0000568)11123463590123463591Human
406976036GWAS625012_Hautism spectrum disorder, schizophrenia QTL GWAS625012 (human)2e-09autism spectrum disorder, schizophrenia11123523928123523929Human
407296416GWAS945392_Hlymphocyte count QTL GWAS945392 (human)1e-10lymphocyte countblood lymphocyte count (CMO:0000031)11123473727123473728Human
407173666GWAS822642_Hchronic lymphocytic leukemia QTL GWAS822642 (human)3e-09chronic lymphocytic leukemia11123490689123490690Human
406944678GWAS593654_Hfas apoptotic inhibitory molecule 3 measurement QTL GWAS593654 (human)2e-15fas apoptotic inhibitory molecule 3 measurement11123484683123484684Human
407012389GWAS661365_HAbnormality of refraction QTL GWAS661365 (human)5e-21Abnormality of refraction11123550694123550695Human
407151405GWAS800381_Hschizophrenia QTL GWAS800381 (human)6e-10schizophrenia11123523928123523929Human
407009577GWAS658553_Htestosterone measurement QTL GWAS658553 (human)4e-15testosterone measurementserum testosterone level (CMO:0000568)11123454403123454404Human
407325868GWAS974844_Htestosterone measurement QTL GWAS974844 (human)2e-08testosterone measurementserum testosterone level (CMO:0000568)11123566961123566962Human
407138984GWAS787960_Hcumulative dose response to bevacizumab QTL GWAS787960 (human)0.0000006cumulative dose response to bevacizumab11123393934123393935Human
407018414GWAS667390_Hmean platelet volume QTL GWAS667390 (human)3e-10mean platelet volumemean platelet volume (CMO:0001348)11123484683123484684Human
407001260GWAS650236_Hulcerative colitis QTL GWAS650236 (human)0.000006ulcerative colitis11123459759123459760Human
407314984GWAS963960_Htestosterone measurement QTL GWAS963960 (human)3e-11testosterone measurementserum testosterone level (CMO:0000568)11123567410123567411Human
407322292GWAS971268_Htestosterone measurement QTL GWAS971268 (human)1e-12testosterone measurementserum testosterone level (CMO:0000568)11123566961123566962Human
407037493GWAS686469_Hheel bone mineral density QTL GWAS686469 (human)1e-10heel bone mineral densitybone mineral density (CMO:0001226)11123546228123546229Human

Markers in Region
D11S4144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,431,350 - 123,431,532UniSTSGRCh37
Build 3611122,936,560 - 122,936,742RGDNCBI36
Celera11120,590,652 - 120,590,828RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,372,975 - 119,373,145UniSTS
Marshfield Genetic Map11123.0RGD
Marshfield Genetic Map11123.0UniSTS
Genethon Genetic Map11128.4UniSTS
Whitehead-YAC Contig Map11 UniSTS
D11S1316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,472,104 - 123,472,309UniSTSGRCh37
Build 3611122,977,314 - 122,977,519RGDNCBI36
Celera11120,631,523 - 120,631,728RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,413,393 - 119,413,596UniSTS
Marshfield Genetic Map11123.0RGD
Marshfield Genetic Map11123.0UniSTS
Genethon Genetic Map11128.4UniSTS
deCODE Assembly Map11130.02UniSTS
Whitehead-YAC Contig Map11 UniSTS
D7S611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37768,309,099 - 68,309,304UniSTSGRCh37
GRCh3711123,410,262 - 123,411,154UniSTSGRCh37
GRCh37768,309,099 - 68,309,305UniSTSGRCh37
Build 36767,947,035 - 67,947,241RGDNCBI36
Celera761,690,503 - 61,690,709RGD
Celera761,690,503 - 61,690,708UniSTS
Celera11120,569,567 - 120,570,459UniSTS
HuRef764,489,548 - 64,489,746UniSTS
HuRef7108,732,298 - 108,733,265UniSTS
CRA_TCAGchr7v2767,648,394 - 67,648,600UniSTS
CRA_TCAGchr7v2767,648,394 - 67,648,599UniSTS
Marshfield Genetic Map778.65RGD
TNG Radiation Hybrid Map730218.0UniSTS
deCODE Assembly Map780.45UniSTS
Stanford-G3 RH Map72957.0UniSTS
NCBI RH Map7869.9UniSTS
RH79909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,468,419 - 123,468,617UniSTSGRCh37
GRCh37138,423,624 - 38,423,824UniSTSGRCh37
Build 36138,196,211 - 38,196,411RGDNCBI36
Celera11120,627,838 - 120,628,036UniSTS
Celera136,701,391 - 36,701,591RGD
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q24.1UniSTS
HuRef11119,409,707 - 119,409,905UniSTS
HuRef136,541,328 - 36,541,528UniSTS
SHGC-2067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,472,201 - 123,472,316UniSTSGRCh37
Build 3611122,977,411 - 122,977,526RGDNCBI36
Celera11120,631,620 - 120,631,735RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,413,490 - 119,413,603UniSTS
TNG Radiation Hybrid Map1157264.0UniSTS
D11S2691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,480,066 - 123,480,298UniSTSGRCh37
Build 3611122,985,276 - 122,985,508RGDNCBI36
Celera11120,639,485 - 120,639,717RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,421,265 - 119,421,497UniSTS
D11S3734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,406,047 - 123,406,164UniSTSGRCh37
Build 3611122,911,257 - 122,911,374RGDNCBI36
Celera11120,565,353 - 120,565,470RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,347,670 - 119,347,787UniSTS
D11S4551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,487,073 - 123,487,319UniSTSGRCh37
Build 3611122,992,283 - 122,992,529RGDNCBI36
Celera11120,646,492 - 120,646,738RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,428,271 - 119,428,517UniSTS
TNG Radiation Hybrid Map1157317.0UniSTS
Stanford-G3 RH Map115588.0UniSTS
NCBI RH Map111024.0UniSTS
SHGC-74617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,423,304 - 38,423,504UniSTSGRCh37
Build 36138,195,891 - 38,196,091RGDNCBI36
Celera136,701,071 - 36,701,271RGD
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q24.1UniSTS
HuRef11119,409,387 - 119,409,587UniSTS
HuRef136,541,008 - 36,541,208UniSTS
TNG Radiation Hybrid Map118467.0UniSTS
GeneMap99-GB4 RH Map1115.49UniSTS
GeneMap99-GB4 RH Map1111.83UniSTS
Whitehead-RH Map1121.4UniSTS
NCBI RH Map1269.9UniSTS
SHGC-35011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,400,539 - 123,400,680UniSTSGRCh37
Build 3611122,905,749 - 122,905,890RGDNCBI36
Celera11120,559,845 - 120,559,986RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,342,162 - 119,342,303UniSTS
Stanford-G3 RH Map115576.0UniSTS
GeneMap99-GB4 RH Map11409.74UniSTS
Whitehead-RH Map11572.8UniSTS
NCBI RH Map111053.1UniSTS
GeneMap99-G3 RH Map115576.0UniSTS
SGC31336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,498,290 - 123,498,420UniSTSGRCh37
Build 3611123,003,500 - 123,003,630RGDNCBI36
Celera11120,657,710 - 120,657,840RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,439,515 - 119,439,645UniSTS
GeneMap99-GB4 RH Map11409.64UniSTS
Whitehead-RH Map11569.2UniSTS
D7S611  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q24.1UniSTS
TNG Radiation Hybrid Map730218.0UniSTS
Stanford-G3 RH Map72957.0UniSTS
NCBI RH Map7869.9UniSTS


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
1204 2417 2788 2239 4954 1722 2324 4 619 1906 460 2257 7213 6412 49 3730 829 1719 1596 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI815988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI256024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ636364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU622943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX363284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV373778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000322282   ⟹   ENSP00000325628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,525,822 - 123,622,622 (+)Ensembl
Ensembl Acc Id: ENST00000450171   ⟹   ENSP00000388458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,607,809 - 123,623,055 (+)Ensembl
Ensembl Acc Id: ENST00000456860   ⟹   ENSP00000402457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,525,636 - 123,622,649 (+)Ensembl
Ensembl Acc Id: ENST00000525757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,454,398 - 123,460,410 (+)Ensembl
Ensembl Acc Id: ENST00000525945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,613,125 - 123,622,700 (+)Ensembl
Ensembl Acc Id: ENST00000529432   ⟹   ENSP00000432987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,560,262 - 123,626,401 (+)Ensembl
Ensembl Acc Id: ENST00000529750   ⟹   ENSP00000436500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,525,822 - 123,627,774 (+)Ensembl
Ensembl Acc Id: ENST00000532581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,560,262 - 123,619,481 (+)Ensembl
Ensembl Acc Id: ENST00000533341   ⟹   ENSP00000490665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,430,269 - 123,435,715 (+)Ensembl
Ensembl Acc Id: ENST00000534764   ⟹   ENSP00000434214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,560,277 - 123,609,902 (+)Ensembl
Ensembl Acc Id: ENST00000632815   ⟹   ENSP00000488714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,509,918 - 123,594,838 (+)Ensembl
Ensembl Acc Id: ENST00000633087   ⟹   ENSP00000488613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,480,738 - 123,594,838 (+)Ensembl
Ensembl Acc Id: ENST00000633646   ⟹   ENSP00000488382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,454,658 - 123,600,547 (+)Ensembl
Ensembl Acc Id: ENST00000635736   ⟹   ENSP00000490062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,430,269 - 123,627,767 (+)Ensembl
Ensembl Acc Id: ENST00000638086   ⟹   ENSP00000490920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,491,653 - 123,622,759 (+)Ensembl
Ensembl Acc Id: ENST00000638157   ⟹   ENSP00000489896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,358,428 - 123,627,767 (+)Ensembl
Ensembl Acc Id: ENST00000640939   ⟹   ENSP00000491509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,430,350 - 123,435,719 (+)Ensembl
Ensembl Acc Id: ENST00000646146   ⟹   ENSP00000494891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,591,087 - 123,627,774 (+)Ensembl
RefSeq Acc Id: NM_001286563   ⟹   NP_001273492
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,525,626 - 123,627,767 (+)NCBI
HuRef11119,337,967 - 119,439,704 (+)NCBI
CHM1_111123,282,549 - 123,384,678 (+)NCBI
T2T-CHM13v2.011123,553,985 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286564   ⟹   NP_001273493
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,560,262 - 123,627,767 (+)NCBI
HuRef11119,337,967 - 119,439,704 (+)NCBI
CHM1_111123,317,167 - 123,384,678 (+)NCBI
T2T-CHM13v2.011123,588,638 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330396   ⟹   NP_001317325
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,509,916 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,538,249 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354837   ⟹   NP_001341766
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,430,269 - 123,435,715 (+)NCBI
T2T-CHM13v2.011123,458,612 - 123,464,058 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367418   ⟹   NP_001354347
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,386,861 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367419   ⟹   NP_001354348
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,386,861 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367420   ⟹   NP_001354349
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,386,861 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367421   ⟹   NP_001354350
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,386,861 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387024   ⟹   NP_001373953
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,430,269 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,458,612 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387025   ⟹   NP_001373954
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,430,269 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,458,612 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387026   ⟹   NP_001373955
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,430,269 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,458,612 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387028   ⟹   NP_001373957
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,525,626 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,553,985 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387029   ⟹   NP_001373958
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,525,626 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,553,985 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387030   ⟹   NP_001373959
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,454,643 - 123,620,158 (+)NCBI
T2T-CHM13v2.011123,482,984 - 123,649,130 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387031   ⟹   NP_001373960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,560,262 - 123,620,158 (+)NCBI
T2T-CHM13v2.011123,588,638 - 123,649,130 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387032   ⟹   NP_001373961
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,509,916 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,538,249 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387033   ⟹   NP_001373962
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,509,916 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,538,249 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387034   ⟹   NP_001373963
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,454,643 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,482,984 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387035   ⟹   NP_001373964
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,560,262 - 123,627,767 (+)NCBI
T2T-CHM13v2.011123,588,638 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020716   ⟹   NP_065767
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,525,626 - 123,627,767 (+)NCBI
GRCh3711123,325,191 - 123,498,478 (+)NCBI
Build 3611122,901,738 - 122,998,728 (+)NCBI Archive
Celera11120,555,834 - 120,652,938 (+)RGD
HuRef11119,337,967 - 119,439,704 (+)NCBI
CHM1_111123,282,549 - 123,384,678 (+)NCBI
T2T-CHM13v2.011123,553,985 - 123,656,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271619   ⟹   XP_005271676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,525,626 - 123,620,158 (+)NCBI
GRCh3711123,325,191 - 123,498,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718892   ⟹   XP_006718955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,420,021 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542926   ⟹   XP_011541228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,420,021 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542929   ⟹   XP_011541231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,560,262 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542931   ⟹   XP_011541233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,509,916 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542933   ⟹   XP_011541235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,590,819 - 123,627,767 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018039   ⟹   XP_016873528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018040   ⟹   XP_016873529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,420,021 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018046   ⟹   XP_016873535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,509,916 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448622   ⟹   XP_024304390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,620,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427318   ⟹   XP_047283274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,430,269 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427319   ⟹   XP_047283275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427320   ⟹   XP_047283276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,428,746 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427321   ⟹   XP_047283277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,428,746 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427322   ⟹   XP_047283278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,428,746 - 123,627,767 (+)NCBI
RefSeq Acc Id: XM_047427323   ⟹   XP_047283279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,420,021 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427324   ⟹   XP_047283280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,358,422 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427325   ⟹   XP_047283281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,454,643 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427326   ⟹   XP_047283282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,469,402 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427327   ⟹   XP_047283283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,454,643 - 123,627,767 (+)NCBI
RefSeq Acc Id: XM_047427328   ⟹   XP_047283284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,558,443 - 123,620,158 (+)NCBI
RefSeq Acc Id: XM_047427330   ⟹   XP_047283286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,469,402 - 123,627,767 (+)NCBI
RefSeq Acc Id: XM_047427331   ⟹   XP_047283287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,590,819 - 123,627,767 (+)NCBI
RefSeq Acc Id: XM_054369457   ⟹   XP_054225432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,386,861 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369458   ⟹   XP_054225433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,457,089 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369459   ⟹   XP_054225434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,457,089 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369460   ⟹   XP_054225435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,457,089 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369461   ⟹   XP_054225436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,448,303 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369462   ⟹   XP_054225437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,386,861 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369463   ⟹   XP_054225438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,482,984 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369464   ⟹   XP_054225439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,497,194 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369465   ⟹   XP_054225440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,448,318 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369466   ⟹   XP_054225441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,448,318 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369467   ⟹   XP_054225442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,482,984 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369468   ⟹   XP_054225443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,386,861 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369469   ⟹   XP_054225444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,587,850 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369470   ⟹   XP_054225445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,448,317 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369471   ⟹   XP_054225446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,497,198 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369472   ⟹   XP_054225447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,386,861 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369473   ⟹   XP_054225448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,587,853 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369474   ⟹   XP_054225449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,553,985 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369475   ⟹   XP_054225450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,588,604 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369476   ⟹   XP_054225451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,538,249 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369477   ⟹   XP_054225452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,595,157 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369478   ⟹   XP_054225453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,538,249 - 123,650,895 (+)NCBI
RefSeq Acc Id: XM_054369479   ⟹   XP_054225454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,618,669 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369480   ⟹   XP_054225455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,618,669 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369481   ⟹   XP_054225456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,538,409 - 123,656,743 (+)NCBI
RefSeq Acc Id: XM_054369482   ⟹   XP_054225457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,620,518 - 123,656,743 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001273492 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273493 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317325 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341766 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354347 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354348 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354349 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354350 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373953 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373954 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373955 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373957 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373958 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373959 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373961 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373962 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373963 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373964 (Get FASTA)   NCBI Sequence Viewer  
  NP_065767 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271676 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718955 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541228 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541231 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541233 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541235 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873528 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873529 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873535 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304390 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283274 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283275 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283276 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283277 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283278 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283279 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283280 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283281 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283282 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283283 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283284 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283286 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225432 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225433 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225434 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225443 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225444 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225445 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225446 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225447 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225448 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225449 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225450 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225451 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225454 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225457 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI05742 (Get FASTA)   NCBI Sequence Viewer  
  AAI05932 (Get FASTA)   NCBI Sequence Viewer  
  AAI05933 (Get FASTA)   NCBI Sequence Viewer  
  AAI07481 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89283 (Get FASTA)   NCBI Sequence Viewer  
  BAA86515 (Get FASTA)   NCBI Sequence Viewer  
  BAG54507 (Get FASTA)   NCBI Sequence Viewer  
  BAH12625 (Get FASTA)   NCBI Sequence Viewer  
  EAW67547 (Get FASTA)   NCBI Sequence Viewer  
  EAW67548 (Get FASTA)   NCBI Sequence Viewer  
  EAW67549 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000388458.2
  ENSP00000402457
  ENSP00000402457.2
  ENSP00000432987
  ENSP00000432987.1
  ENSP00000434214.1
  ENSP00000436500
  ENSP00000436500.1
  ENSP00000488382.1
  ENSP00000488613.1
  ENSP00000488714.1
  ENSP00000489896
  ENSP00000489896.1
  ENSP00000490062
  ENSP00000490062.1
  ENSP00000490665
  ENSP00000490665.1
  ENSP00000490920
  ENSP00000490920.1
  ENSP00000491509.1
  ENSP00000494891
  ENSP00000494891.1
GenBank Protein Q3KR37 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065767   ⟸   NM_020716
- Peptide Label: isoform 2
- UniProtKB: Q6UW85 (UniProtKB/Swiss-Prot),   E7EPH8 (UniProtKB/Swiss-Prot),   B3KXJ5 (UniProtKB/Swiss-Prot),   Q9ULL9 (UniProtKB/Swiss-Prot),   Q3KR37 (UniProtKB/Swiss-Prot),   A0A1B0GWG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271676   ⟸   XM_005271619
- Peptide Label: isoform X13
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273492   ⟸   NM_001286563
- Peptide Label: isoform 1
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273493   ⟸   NM_001286564
- Peptide Label: isoform 3
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718955   ⟸   XM_006718892
- Peptide Label: isoform X7
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541228   ⟸   XM_011542926
- Peptide Label: isoform X8
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541233   ⟸   XM_011542931
- Peptide Label: isoform X15
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541231   ⟸   XM_011542929
- Peptide Label: isoform X14
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541235   ⟸   XM_011542933
- Peptide Label: isoform X16
- UniProtKB: A0A2R8Y5X2 (UniProtKB/TrEMBL),   A0A1B0GWG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873528   ⟸   XM_017018039
- Peptide Label: isoform X10
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873529   ⟸   XM_017018040
- Peptide Label: isoform X11
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873535   ⟸   XM_017018046
- Peptide Label: isoform X15
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304390   ⟸   XM_024448622
- Peptide Label: isoform X12
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317325   ⟸   NM_001330396
- Peptide Label: isoform 4
- UniProtKB: A0A024R3M2 (UniProtKB/TrEMBL),   A0A1B0GWG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341766   ⟸   NM_001354837
- Peptide Label: isoform 9
- UniProtKB: A0A1B0GVV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354349   ⟸   NM_001367420
- Peptide Label: isoform 7
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354348   ⟸   NM_001367419
- Peptide Label: isoform 6
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354347   ⟸   NM_001367418
- Peptide Label: isoform 5
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354350   ⟸   NM_001367421
- Peptide Label: isoform 8
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000388458   ⟸   ENST00000450171
Ensembl Acc Id: ENSP00000490062   ⟸   ENST00000635736
Ensembl Acc Id: ENSP00000489896   ⟸   ENST00000638157
Ensembl Acc Id: ENSP00000490920   ⟸   ENST00000638086
Ensembl Acc Id: ENSP00000325628   ⟸   ENST00000322282
Ensembl Acc Id: ENSP00000490665   ⟸   ENST00000533341
Ensembl Acc Id: ENSP00000434214   ⟸   ENST00000534764
Ensembl Acc Id: ENSP00000402457   ⟸   ENST00000456860
Ensembl Acc Id: ENSP00000491509   ⟸   ENST00000640939
Ensembl Acc Id: ENSP00000488714   ⟸   ENST00000632815
Ensembl Acc Id: ENSP00000494891   ⟸   ENST00000646146
Ensembl Acc Id: ENSP00000436500   ⟸   ENST00000529750
Ensembl Acc Id: ENSP00000432987   ⟸   ENST00000529432
Ensembl Acc Id: ENSP00000488382   ⟸   ENST00000633646
Ensembl Acc Id: ENSP00000488613   ⟸   ENST00000633087
RefSeq Acc Id: NP_001373953   ⟸   NM_001387024
- Peptide Label: isoform 10
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373954   ⟸   NM_001387025
- Peptide Label: isoform 11
- UniProtKB: A0A1B0GUD6 (UniProtKB/TrEMBL),   A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373955   ⟸   NM_001387026
- Peptide Label: isoform 12
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373963   ⟸   NM_001387034
- Peptide Label: isoform 4
- UniProtKB: A0A024R3M2 (UniProtKB/TrEMBL),   A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373959   ⟸   NM_001387030
- Peptide Label: isoform 15
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373961   ⟸   NM_001387032
- Peptide Label: isoform 3
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373962   ⟸   NM_001387033
- Peptide Label: isoform 3
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373957   ⟸   NM_001387028
- Peptide Label: isoform 13
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373958   ⟸   NM_001387029
- Peptide Label: isoform 14
- UniProtKB: A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373964   ⟸   NM_001387035
- Peptide Label: isoform 4
- UniProtKB: A0A024R3M2 (UniProtKB/TrEMBL),   A0A1B0GWG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373960   ⟸   NM_001387031
- Peptide Label: isoform 15
- UniProtKB: B7Z4N9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283275   ⟸   XM_047427319
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283280   ⟸   XM_047427324
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047283279   ⟸   XM_047427323
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047283278   ⟸   XM_047427322
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047283276   ⟸   XM_047427320
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283277   ⟸   XM_047427321
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047283274   ⟸   XM_047427318
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283283   ⟸   XM_047427327
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047283281   ⟸   XM_047427325
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047283286   ⟸   XM_047427330
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047283282   ⟸   XM_047427326
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047283284   ⟸   XM_047427328
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047283287   ⟸   XM_047427331
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054225432   ⟸   XM_054369457
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225437   ⟸   XM_054369462
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225443   ⟸   XM_054369468
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054225447   ⟸   XM_054369472
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054225436   ⟸   XM_054369461
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225445   ⟸   XM_054369470
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054225440   ⟸   XM_054369465
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225441   ⟸   XM_054369466
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054225435   ⟸   XM_054369460
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054225433   ⟸   XM_054369458
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225434   ⟸   XM_054369459
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225442   ⟸   XM_054369467
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054225438   ⟸   XM_054369463
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225439   ⟸   XM_054369464
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054225446   ⟸   XM_054369471
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054225451   ⟸   XM_054369476
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054225453   ⟸   XM_054369478
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054225456   ⟸   XM_054369481
- Peptide Label: isoform X25
- UniProtKB: A0A024R3M2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225449   ⟸   XM_054369474
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054225444   ⟸   XM_054369469
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054225448   ⟸   XM_054369473
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054225450   ⟸   XM_054369475
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054225452   ⟸   XM_054369477
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054225454   ⟸   XM_054369479
- Peptide Label: isoform X16
- UniProtKB: A0A2R8Y5X2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225455   ⟸   XM_054369480
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054225457   ⟸   XM_054369482
- Peptide Label: isoform X26
Protein Domains
GRAM   VASt

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3KR37-F1-model_v2 AlphaFold Q3KR37 1-738 view protein structure

Promoters
RGD ID:6788967
Promoter ID:HG_KWN:14451
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC009ZBE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611122,935,939 - 122,936,439 (+)MPROMDB
RGD ID:7222475
Promoter ID:EPDNEW_H16983
Type:initiation region
Name:GRAMD1B_2
Description:GRAM domain containing 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16984  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,525,842 - 123,525,902EPDNEW
RGD ID:7222477
Promoter ID:EPDNEW_H16984
Type:initiation region
Name:GRAMD1B_1
Description:GRAM domain containing 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16983  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,560,268 - 123,560,328EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29214 AgrOrtholog
COSMIC GRAMD1B COSMIC
Ensembl Genes ENSG00000023171 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000450171.2 UniProtKB/Swiss-Prot
  ENST00000456860 ENTREZGENE
  ENST00000456860.6 UniProtKB/Swiss-Prot
  ENST00000529432 ENTREZGENE
  ENST00000529432.5 UniProtKB/Swiss-Prot
  ENST00000529750 ENTREZGENE
  ENST00000529750.5 UniProtKB/Swiss-Prot
  ENST00000533341 ENTREZGENE
  ENST00000533341.3 UniProtKB/TrEMBL
  ENST00000534764.1 UniProtKB/TrEMBL
  ENST00000632815.1 UniProtKB/TrEMBL
  ENST00000633087.1 UniProtKB/TrEMBL
  ENST00000633646.1 UniProtKB/TrEMBL
  ENST00000635736 ENTREZGENE
  ENST00000635736.2 UniProtKB/TrEMBL
  ENST00000638086 ENTREZGENE
  ENST00000638086.1 UniProtKB/TrEMBL
  ENST00000638157 ENTREZGENE
  ENST00000638157.1 UniProtKB/TrEMBL
  ENST00000640939.1 UniProtKB/TrEMBL
  ENST00000646146 ENTREZGENE
  ENST00000646146.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000023171 GTEx
HGNC ID HGNC:29214 ENTREZGENE
Human Proteome Map GRAMD1B Human Proteome Map
InterPro Cholesterol_transport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VASt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57476 UniProtKB/Swiss-Prot
NCBI Gene 57476 ENTREZGENE
OMIM 620179 OMIM
PANTHER PROTEIN ASTER-B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VASt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671708 PharmGKB
PROSITE VAST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3M2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YXF6_HUMAN UniProtKB/TrEMBL
  A0A0J9YXZ1_HUMAN UniProtKB/TrEMBL
  A0A0J9YY71_HUMAN UniProtKB/TrEMBL
  A0A1B0GUD6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GVV0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GWG7 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQ30_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5X2 ENTREZGENE, UniProtKB/TrEMBL
  ASTRB_HUMAN UniProtKB/Swiss-Prot
  B3KXJ5 ENTREZGENE
  B7Z4N9 ENTREZGENE, UniProtKB/TrEMBL
  E7EPH8 ENTREZGENE
  E9PRD6_HUMAN UniProtKB/TrEMBL
  Q3KR37 ENTREZGENE
  Q6UW85 ENTREZGENE
  Q9ULL9 ENTREZGENE
UniProt Secondary B3KXJ5 UniProtKB/Swiss-Prot
  E7EPH8 UniProtKB/Swiss-Prot
  Q6UW85 UniProtKB/Swiss-Prot
  Q9ULL9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-30 GRAMD1B  GRAM domain containing 1B  LINC01059  long intergenic non-protein coding RNA 1059  Data merged from RGD:7284110 737654 PROVISIONAL