RABGAP1 (RAB GTPase activating protein 1) - Rat Genome Database

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Gene: RABGAP1 (RAB GTPase activating protein 1) Homo sapiens
Analyze
Symbol: RABGAP1
Name: RAB GTPase activating protein 1
RGD ID: 1312283
HGNC Page HGNC:17155
Description: Enables GTPase activator activity and small GTPase binding activity. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp586D2123; GAP and centrosome-associated protein; GAPCENA; rab GTPase-activating protein 1; rab6 GTPase activating protein (GAP and centrosome-associated); Rab6 GTPase activating protein, GAPCenA; rab6 GTPase-activating protein GAPCenA; RP11-123N4.2; TBC1 domain family, member 11; TBC1D11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389122,931,671 - 123,104,866 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9122,940,833 - 123,104,866 (+)EnsemblGRCh38hg38GRCh38
GRCh379125,703,299 - 125,867,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369124,743,138 - 124,906,531 (+)NCBINCBI36Build 36hg18NCBI36
Build 349122,782,870 - 122,946,250NCBI
Celera996,351,607 - 96,515,424 (+)NCBICelera
Cytogenetic Map9q33.2-q33.3NCBI
HuRef995,318,127 - 95,482,201 (+)NCBIHuRef
CHM1_19125,851,805 - 126,015,462 (+)NCBICHM1_1
T2T-CHM13v2.09135,128,522 - 135,302,077 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centrosome  (IEA,TAS)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IDA,IEA,TAS)
microtubule associated complex  (TAS)

Molecular Function

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
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10202141   PMID:10893188   PMID:11071909   PMID:14702039   PMID:16608850   PMID:17043677   PMID:17124247   PMID:17562788   PMID:17646400   PMID:19077034   PMID:19322201   PMID:20379614  
PMID:20562859   PMID:21873635   PMID:21988832   PMID:22190034   PMID:22354992   PMID:22863883   PMID:23248241   PMID:23383273   PMID:25814554   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:28514442   PMID:28611215   PMID:29146913   PMID:29395067   PMID:29507755   PMID:29568061   PMID:29872149   PMID:31091453   PMID:31617661   PMID:32416067   PMID:32687490  
PMID:32877691   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34709266   PMID:34709727   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35696571   PMID:35831314   PMID:35944360  
PMID:36215168   PMID:36380570   PMID:37232246   PMID:37689310   PMID:37774976  


Genomics

Comparative Map Data
RABGAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389122,931,671 - 123,104,866 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9122,940,833 - 123,104,866 (+)EnsemblGRCh38hg38GRCh38
GRCh379125,703,299 - 125,867,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369124,743,138 - 124,906,531 (+)NCBINCBI36Build 36hg18NCBI36
Build 349122,782,870 - 122,946,250NCBI
Celera996,351,607 - 96,515,424 (+)NCBICelera
Cytogenetic Map9q33.2-q33.3NCBI
HuRef995,318,127 - 95,482,201 (+)NCBIHuRef
CHM1_19125,851,805 - 126,015,462 (+)NCBICHM1_1
T2T-CHM13v2.09135,128,522 - 135,302,077 (+)NCBIT2T-CHM13v2.0
Rabgap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39237,333,274 - 37,463,653 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl237,333,291 - 37,456,466 (+)EnsemblGRCm39 Ensembl
GRCm38237,443,263 - 37,573,420 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl237,443,279 - 37,566,454 (+)EnsemblGRCm38mm10GRCm38
MGSCv37237,298,805 - 37,421,957 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36237,265,294 - 37,388,446 (+)NCBIMGSCv36mm8
Celera237,127,293 - 37,251,801 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map224.19NCBI
Rabgap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8341,617,784 - 41,735,795 (+)NCBIGRCr8
mRatBN7.2321,208,012 - 21,326,013 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl321,208,055 - 21,326,013 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx324,676,385 - 24,794,460 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0333,261,349 - 33,379,418 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0331,072,090 - 31,190,304 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0321,698,032 - 21,815,383 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl321,698,032 - 21,815,379 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0326,937,207 - 27,053,945 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4317,204,810 - 17,322,894 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1317,125,169 - 17,217,685 (+)NCBI
Celera319,643,578 - 19,761,555 (+)NCBICelera
Cytogenetic Map3q11NCBI
Rabgap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554194,869,799 - 5,023,321 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554194,869,799 - 5,031,430 (-)NCBIChiLan1.0ChiLan1.0
RABGAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21116,244,231 - 16,410,384 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1916,246,579 - 16,412,777 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0994,066,218 - 94,232,659 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19122,399,778 - 122,565,906 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9122,415,882 - 122,564,283 (+)Ensemblpanpan1.1panPan2
RABGAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1959,692,621 - 59,860,392 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl959,694,098 - 59,836,532 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha958,887,930 - 59,055,537 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0960,613,022 - 60,779,721 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl960,614,598 - 60,779,703 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1959,371,070 - 59,538,494 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0959,686,097 - 59,853,500 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0959,778,987 - 59,946,247 (-)NCBIUU_Cfam_GSD_1.0
Rabgap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947191,645,998 - 191,806,955 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648711,414,463 - 11,575,471 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648711,414,454 - 11,575,423 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RABGAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1263,857,513 - 264,030,574 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11263,857,501 - 264,030,575 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21297,320,617 - 297,478,637 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RABGAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11215,028,205 - 15,198,953 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1215,028,203 - 15,177,626 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666079865,318 - 1,040,790 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rabgap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476011,818,408 - 12,004,005 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476011,818,349 - 12,003,955 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RABGAP1
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 copy number loss See cases [RCV000052922] Chr9:120938041..123469664 [GRCh38]
Chr9:123700319..126231943 [GRCh37]
Chr9:122740140..125271764 [NCBI36]
Chr9:9q33.2-33.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
NM_012197.3(RABGAP1):c.1795-9088G>T single nucleotide variant Lung cancer [RCV000108163] Chr9:123056260 [GRCh38]
Chr9:125818539 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1 copy number loss See cases [RCV000141589] Chr9:123095598..126693843 [GRCh38]
Chr9:125857877..129456122 [GRCh37]
Chr9:124897698..128495943 [NCBI36]
Chr9:9q33.2-33.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q33.2-33.3(chr9:125400380-125828592)x3 copy number gain not provided [RCV000748646] Chr9:125400380..125828592 [GRCh37]
Chr9:9q33.2-33.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1 copy number loss not provided [RCV001006270] Chr9:124604592..126306080 [GRCh37]
Chr9:9q33.2-33.3		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1 copy number loss not provided [RCV000849649] Chr9:125349988..126462569 [GRCh37]
Chr9:9q33.2-33.3		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:125635604-125892381)x1 copy number loss not provided [RCV000846072] Chr9:125635604..125892381 [GRCh37]
Chr9:9q33.2-33.3		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_005294.3(GPR21):c.773C>G (p.Thr258Ser) single nucleotide variant Inborn genetic diseases [RCV003272681] Chr9:123035339 [GRCh38]
Chr9:125797618 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:125782663-125888286)x1 copy number loss not provided [RCV001833081] Chr9:125782663..125888286 [GRCh37]
Chr9:9q33.2-33.3		 uncertain significance
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1 copy number loss not provided [RCV001834516] Chr9:120045175..127335905 [GRCh37]
Chr9:9q33.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1 copy number loss not provided [RCV002474540] Chr9:124018736..129995568 [GRCh37]
Chr9:9q33.2-33.3		 pathogenic
NM_005294.3(GPR21):c.146T>C (p.Val49Ala) single nucleotide variant Inborn genetic diseases [RCV002684085] Chr9:123034712 [GRCh38]
Chr9:125796991 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.568A>T (p.Asn190Tyr) single nucleotide variant Inborn genetic diseases [RCV002774483] Chr9:122986397 [GRCh38]
Chr9:125748676 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.3074A>C (p.Glu1025Ala) single nucleotide variant Inborn genetic diseases [RCV002732952] Chr9:123101750 [GRCh38]
Chr9:125864029 [GRCh37]
Chr9:9q33.3		 uncertain significance
NM_012197.4(RABGAP1):c.1761C>G (p.His587Gln) single nucleotide variant Inborn genetic diseases [RCV002992099] Chr9:123020426 [GRCh38]
Chr9:125782705 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.1457G>C (p.Arg486Thr) single nucleotide variant Inborn genetic diseases [RCV002772185] Chr9:123010436 [GRCh38]
Chr9:125772715 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.647G>A (p.Arg216His) single nucleotide variant Inborn genetic diseases [RCV002733893] Chr9:123035213 [GRCh38]
Chr9:125797492 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.2617G>A (p.Asp873Asn) single nucleotide variant Inborn genetic diseases [RCV002733649] Chr9:123090374 [GRCh38]
Chr9:125852653 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.280C>T (p.Leu94Phe) single nucleotide variant Inborn genetic diseases [RCV002758510] Chr9:123034846 [GRCh38]
Chr9:125797125 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.2672C>G (p.Thr891Ser) single nucleotide variant Inborn genetic diseases [RCV002844664] Chr9:123097784 [GRCh38]
Chr9:125860063 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.218T>A (p.Met73Lys) single nucleotide variant Inborn genetic diseases [RCV002827810] Chr9:122984552 [GRCh38]
Chr9:125746831 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.551C>T (p.Ser184Phe) single nucleotide variant Inborn genetic diseases [RCV002803915] Chr9:123035117 [GRCh38]
Chr9:125797396 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.2041A>G (p.Arg681Gly) single nucleotide variant Inborn genetic diseases [RCV002874682] Chr9:123073609 [GRCh38]
Chr9:125835888 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.638A>T (p.Asn213Ile) single nucleotide variant Inborn genetic diseases [RCV002830341] Chr9:123035204 [GRCh38]
Chr9:125797483 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.2266A>T (p.Ile756Phe) single nucleotide variant Inborn genetic diseases [RCV002827452] Chr9:123076257 [GRCh38]
Chr9:125838536 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.679G>A (p.Glu227Lys) single nucleotide variant Inborn genetic diseases [RCV002673790] Chr9:123035245 [GRCh38]
Chr9:125797524 [GRCh37]
Chr9:9q33.2		 likely benign
NM_012197.4(RABGAP1):c.665A>G (p.His222Arg) single nucleotide variant Inborn genetic diseases [RCV002674435] Chr9:122989371 [GRCh38]
Chr9:125751650 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.841A>C (p.Ser281Arg) single nucleotide variant Inborn genetic diseases [RCV002836394] Chr9:123035407 [GRCh38]
Chr9:125797686 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.3029T>G (p.Met1010Arg) single nucleotide variant Inborn genetic diseases [RCV002807918] Chr9:123101705 [GRCh38]
Chr9:125863984 [GRCh37]
Chr9:9q33.3		 uncertain significance
NM_005294.3(GPR21):c.1000G>A (p.Asp334Asn) single nucleotide variant Inborn genetic diseases [RCV002718351] Chr9:123035566 [GRCh38]
Chr9:125797845 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.368T>C (p.Ile123Thr) single nucleotide variant Inborn genetic diseases [RCV002748404] Chr9:123034934 [GRCh38]
Chr9:125797213 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.169G>C (p.Glu57Gln) single nucleotide variant Inborn genetic diseases [RCV003179829] Chr9:122984503 [GRCh38]
Chr9:125746782 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.230C>G (p.Pro77Arg) single nucleotide variant Inborn genetic diseases [RCV003211357] Chr9:122984564 [GRCh38]
Chr9:125746843 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.410A>G (p.Tyr137Cys) single nucleotide variant Inborn genetic diseases [RCV003286839] Chr9:123034976 [GRCh38]
Chr9:125797255 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.1054A>G (p.Ser352Gly) single nucleotide variant Inborn genetic diseases [RCV003206014] Chr9:122996558 [GRCh38]
Chr9:125758837 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.89G>A (p.Arg30Lys) single nucleotide variant Inborn genetic diseases [RCV003194668] Chr9:122957148 [GRCh38]
Chr9:125719427 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.2506G>A (p.Glu836Lys) single nucleotide variant Inborn genetic diseases [RCV003356519] Chr9:123089839 [GRCh38]
Chr9:125852118 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.217A>G (p.Met73Val) single nucleotide variant Inborn genetic diseases [RCV003344326] Chr9:122984551 [GRCh38]
Chr9:125746830 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_012197.4(RABGAP1):c.2944G>A (p.Val982Ile) single nucleotide variant Inborn genetic diseases [RCV003353691] Chr9:123101620 [GRCh38]
Chr9:125863899 [GRCh37]
Chr9:9q33.3		 likely benign
GRCh37/hg19 9q33.2-33.3(chr9:125788837-125857683)x1 copy number loss not provided [RCV003483079] Chr9:125788837..125857683 [GRCh37]
Chr9:9q33.2-33.3		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1 copy number loss not specified [RCV003986827] Chr9:122755951..127551056 [GRCh37]
Chr9:9q33.2-33.3		 pathogenic
NM_005294.3(GPR21):c.967T>C (p.Cys323Arg) single nucleotide variant Inborn genetic diseases [RCV003363433] Chr9:123035533 [GRCh38]
Chr9:125797812 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_005294.3(GPR21):c.737C>G (p.Pro246Arg) single nucleotide variant Inborn genetic diseases [RCV003378807] Chr9:123035303 [GRCh38]
Chr9:125797582 [GRCh37]
Chr9:9q33.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2600
Count of miRNA genes:1124
Interacting mature miRNAs:1394
Transcripts:ENST00000317419, ENST00000373643, ENST00000373647, ENST00000402311, ENST00000426918, ENST00000456584, ENST00000459903, ENST00000468760, ENST00000474707, ENST00000475607, ENST00000480054, ENST00000485090, ENST00000493854
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.

Markers in Region
RH65955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,702,375 - 125,702,503UniSTSGRCh37
Build 369124,742,196 - 124,742,324RGDNCBI36
Celera996,350,694 - 96,350,822RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,317,214 - 95,317,342UniSTS
GeneMap99-GB4 RH Map9377.72UniSTS
NCBI RH Map91158.5UniSTS
SHGC-13271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,799,057 - 125,799,270UniSTSGRCh37
Build 369124,838,878 - 124,839,091RGDNCBI36
Celera996,447,357 - 96,447,570RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,413,994 - 95,414,207UniSTS
RH103351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,866,775 - 125,866,950UniSTSGRCh37
Build 369124,906,596 - 124,906,771RGDNCBI36
Celera996,515,052 - 96,515,227RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,481,829 - 95,482,004UniSTS
GeneMap99-GB4 RH Map9377.82UniSTS
SHGC-104980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,772,534 - 125,772,805UniSTSGRCh37
Build 369124,812,355 - 124,812,626RGDNCBI36
Celera996,420,844 - 96,421,115RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,387,470 - 95,387,741UniSTS
TNG Radiation Hybrid Map947196.0UniSTS
SHGC-106712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,703,722 - 125,704,041UniSTSGRCh37
Build 369124,743,543 - 124,743,862RGDNCBI36
Celera996,352,041 - 96,352,360RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,318,561 - 95,318,880UniSTS
TNG Radiation Hybrid Map947256.0UniSTS
GPR21_2093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,797,220 - 125,798,086UniSTSGRCh37
Build 369124,837,041 - 124,837,907RGDNCBI36
Celera996,445,532 - 96,446,386RGD
HuRef995,412,165 - 95,413,023UniSTS
SHGC-1298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,704,197 - 125,704,330UniSTSGRCh37
Build 369124,744,018 - 124,744,151RGDNCBI36
Celera996,352,516 - 96,352,649RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,319,036 - 95,319,169UniSTS
TNG Radiation Hybrid Map947300.0UniSTS
Stanford-G3 RH Map92168.0UniSTS
NCBI RH Map91168.7UniSTS
RH12674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,866,442 - 125,866,562UniSTSGRCh37
Build 369124,906,263 - 124,906,383RGDNCBI36
Celera996,514,718 - 96,514,838RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,481,495 - 95,481,615UniSTS
GeneMap99-GB4 RH Map9382.26UniSTS
NCBI RH Map91158.5UniSTS
WI-11176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,805,053 - 125,805,262UniSTSGRCh37
Build 369124,844,874 - 124,845,083RGDNCBI36
Celera996,453,353 - 96,453,562RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,419,991 - 95,420,200UniSTS
Whitehead-RH Map9458.2UniSTS
WI-13608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379125,798,410 - 125,798,545UniSTSGRCh37
Build 369124,838,231 - 124,838,366RGDNCBI36
Celera996,446,710 - 96,446,845RGD
Cytogenetic Map9q34.11UniSTS
HuRef995,413,347 - 95,413,482UniSTS
GeneMap99-GB4 RH Map9377.82UniSTS
Whitehead-RH Map9456.5UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA948302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG622097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,941,020 - 122,990,769 (+)Ensembl
RefSeq Acc Id: ENST00000373647   ⟹   ENSP00000362751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,941,020 - 123,104,866 (+)Ensembl
RefSeq Acc Id: ENST00000402311   ⟹   ENSP00000384119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,941,033 - 122,984,671 (+)Ensembl
RefSeq Acc Id: ENST00000426918   ⟹   ENSP00000416327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,941,090 - 122,997,335 (+)Ensembl
RefSeq Acc Id: ENST00000456584   ⟹   ENSP00000414386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,940,833 - 123,103,268 (+)Ensembl
RefSeq Acc Id: ENST00000459903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,941,020 - 122,986,416 (+)Ensembl
RefSeq Acc Id: ENST00000474707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9123,073,560 - 123,076,999 (+)Ensembl
RefSeq Acc Id: ENST00000475607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9123,033,667 - 123,074,317 (+)Ensembl
RefSeq Acc Id: ENST00000480054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9123,089,552 - 123,097,753 (+)Ensembl
RefSeq Acc Id: ENST00000485090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,990,163 - 122,996,320 (+)Ensembl
RefSeq Acc Id: ENST00000493854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9123,033,509 - 123,074,310 (+)Ensembl
RefSeq Acc Id: NM_012197   ⟹   NP_036329
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,104,866 (+)NCBI
GRCh379125,703,288 - 125,867,147 (+)RGD
Build 369124,743,138 - 124,906,531 (+)NCBI Archive
Celera996,351,607 - 96,515,424 (+)RGD
HuRef995,318,127 - 95,482,201 (+)RGD
CHM1_19125,851,805 - 126,015,462 (+)NCBI
T2T-CHM13v2.09135,138,259 - 135,302,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518440   ⟹   XP_011516742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518441   ⟹   XP_011516743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518444   ⟹   XP_011516746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,073,653 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014567   ⟹   XP_016870056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,931,671 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014568   ⟹   XP_016870057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014569   ⟹   XP_016870058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,931,671 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447474   ⟹   XP_024303242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,957,133 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447475   ⟹   XP_024303243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,076,771 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447476   ⟹   XP_024303244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,026,539 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447477   ⟹   XP_024303245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389123,071,412 - 123,104,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423130   ⟹   XP_047279086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,931,671 - 123,104,866 (+)NCBI
RefSeq Acc Id: XM_047423131   ⟹   XP_047279087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,984,687 - 123,104,866 (+)NCBI
RefSeq Acc Id: XM_047423132   ⟹   XP_047279088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,957,193 - 123,104,866 (+)NCBI
RefSeq Acc Id: XM_047423134   ⟹   XP_047279090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,026,539 (+)NCBI
RefSeq Acc Id: XM_047423135   ⟹   XP_047279091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,026,539 (+)NCBI
RefSeq Acc Id: XM_054362574   ⟹   XP_054218549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,128,856 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362575   ⟹   XP_054218550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,259 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362576   ⟹   XP_054218551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,228 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362577   ⟹   XP_054218552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,128,522 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362578   ⟹   XP_054218553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,255 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362579   ⟹   XP_054218554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,154,378 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362580   ⟹   XP_054218555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,181,941 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362581   ⟹   XP_054218556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,154,438 - 135,302,077 (+)NCBI
RefSeq Acc Id: XM_054362582   ⟹   XP_054218557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,259 - 135,274,016 (+)NCBI
RefSeq Acc Id: XM_054362583   ⟹   XP_054218558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,259 - 135,270,898 (+)NCBI
RefSeq Acc Id: XM_054362584   ⟹   XP_054218559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,259 - 135,223,790 (+)NCBI
RefSeq Acc Id: XM_054362585   ⟹   XP_054218560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,234 - 135,223,790 (+)NCBI
RefSeq Acc Id: XM_054362586   ⟹   XP_054218561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,259 - 135,223,790 (+)NCBI
RefSeq Acc Id: XM_054362587   ⟹   XP_054218562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,268,657 - 135,302,077 (+)NCBI
RefSeq Acc Id: XR_007061269
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 123,026,539 (+)NCBI
RefSeq Acc Id: XR_008487972
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09135,138,259 - 135,223,790 (+)NCBI
Protein Sequences
Protein RefSeqs NP_036329 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516742 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516743 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516746 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870056 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870057 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870058 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303242 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303243 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303244 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303245 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279086 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279087 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279088 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279090 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218554 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218556 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218558 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218562 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF28917 (Get FASTA)   NCBI Sequence Viewer  
  AAH20609 (Get FASTA)   NCBI Sequence Viewer  
  AAH54492 (Get FASTA)   NCBI Sequence Viewer  
  BAD18594 (Get FASTA)   NCBI Sequence Viewer  
  BAH11800 (Get FASTA)   NCBI Sequence Viewer  
  BAH16640 (Get FASTA)   NCBI Sequence Viewer  
  CAB40267 (Get FASTA)   NCBI Sequence Viewer  
  CAB43313 (Get FASTA)   NCBI Sequence Viewer  
  EAW87554 (Get FASTA)   NCBI Sequence Viewer  
  EAW87555 (Get FASTA)   NCBI Sequence Viewer  
  EAW87556 (Get FASTA)   NCBI Sequence Viewer  
  EAW87557 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362751
  ENSP00000362751.4
  ENSP00000384119.1
  ENSP00000414386.1
  ENSP00000416327.2
GenBank Protein Q9Y3P9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036329   ⟸   NM_012197
- UniProtKB: Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot),   Q9Y3P9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516742   ⟸   XM_011518440
- Peptide Label: isoform X1
- UniProtKB: Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot),   Q9Y3P9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516746   ⟸   XM_011518444
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011516743   ⟸   XM_011518441
- Peptide Label: isoform X1
- UniProtKB: Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot),   Q9Y3P9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870056   ⟸   XM_017014567
- Peptide Label: isoform X1
- UniProtKB: Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot),   Q9Y3P9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870058   ⟸   XM_017014569
- Peptide Label: isoform X1
- UniProtKB: Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot),   Q9Y3P9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870057   ⟸   XM_017014568
- Peptide Label: isoform X1
- UniProtKB: Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot),   Q9Y3P9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303243   ⟸   XM_024447475
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303244   ⟸   XM_024447476
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024303242   ⟸   XM_024447474
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303245   ⟸   XM_024447477
- Peptide Label: isoform X7
- UniProtKB: B7Z2B4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_047279086   ⟸   XM_047423130
- Peptide Label: isoform X1
- UniProtKB: Q9Y3P9 (UniProtKB/Swiss-Prot),   Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279091   ⟸   XM_047423135
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279090   ⟸   XM_047423134
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279088   ⟸   XM_047423132
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279087   ⟸   XM_047423131
- Peptide Label: isoform X3
RefSeq Acc Id: ENSP00000384119   ⟸   ENST00000402311
RefSeq Acc Id: ENSP00000362751   ⟸   ENST00000373647
RefSeq Acc Id: ENSP00000414386   ⟸   ENST00000456584
RefSeq Acc Id: ENSP00000416327   ⟸   ENST00000426918
RefSeq Acc Id: XP_054218552   ⟸   XM_054362577
- Peptide Label: isoform X1
- UniProtKB: Q9Y3P9 (UniProtKB/Swiss-Prot),   Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218549   ⟸   XM_054362574
- Peptide Label: isoform X1
- UniProtKB: Q9Y3P9 (UniProtKB/Swiss-Prot),   Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218551   ⟸   XM_054362576
- Peptide Label: isoform X1
- UniProtKB: Q9Y3P9 (UniProtKB/Swiss-Prot),   Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218560   ⟸   XM_054362585
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218553   ⟸   XM_054362578
- Peptide Label: isoform X1
- UniProtKB: Q9Y3P9 (UniProtKB/Swiss-Prot),   Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218550   ⟸   XM_054362575
- Peptide Label: isoform X1
- UniProtKB: Q9Y3P9 (UniProtKB/Swiss-Prot),   Q9P0E2 (UniProtKB/Swiss-Prot),   Q9HA28 (UniProtKB/Swiss-Prot),   Q6ZMY1 (UniProtKB/Swiss-Prot),   Q05CW2 (UniProtKB/Swiss-Prot),   B9A6L2 (UniProtKB/Swiss-Prot),   Q9UG67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218557   ⟸   XM_054362582
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218558   ⟸   XM_054362583
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218561   ⟸   XM_054362586
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218559   ⟸   XM_054362584
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218554   ⟸   XM_054362579
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218556   ⟸   XM_054362581
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218555   ⟸   XM_054362580
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218562   ⟸   XM_054362587
- Peptide Label: isoform X7
- UniProtKB: B7Z2B4 (UniProtKB/TrEMBL)
Protein Domains
PID   Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3P9-F1-model_v2 AlphaFold Q9Y3P9 1-1069 view protein structure

Promoters
RGD ID:7216087
Promoter ID:EPDNEW_H13789
Type:initiation region
Name:RABGAP1_2
Description:RAB GTPase activating protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13790  EPDNEW_H13791  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,941,020 - 122,941,080EPDNEW
RGD ID:7216089
Promoter ID:EPDNEW_H13790
Type:single initiation site
Name:RABGAP1_1
Description:RAB GTPase activating protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13789  EPDNEW_H13791  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,944,896 - 122,944,956EPDNEW
RGD ID:6808036
Promoter ID:HG_KWN:64837
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000317419,   ENST00000402311,   NM_012197,   OTTHUMT00000326640,   UC004BNL.2,   UC004BNM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369124,742,814 - 124,743,314 (+)MPROMDB
RGD ID:6807470
Promoter ID:HG_KWN:64840
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000403637
Position:
Human AssemblyChrPosition (strand)Source
Build 369124,788,111 - 124,788,611 (+)MPROMDB
RGD ID:6808016
Promoter ID:HG_KWN:64841
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000326641
Position:
Human AssemblyChrPosition (strand)Source
Build 369124,791,261 - 124,791,761 (+)MPROMDB
RGD ID:6808015
Promoter ID:HG_KWN:64846
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000053979
Position:
Human AssemblyChrPosition (strand)Source
Build 369124,891,306 - 124,892,007 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17155 AgrOrtholog
COSMIC RABGAP1 COSMIC
Ensembl Genes ENSG00000011454 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373647 ENTREZGENE
  ENST00000373647.9 UniProtKB/Swiss-Prot
  ENST00000402311.5 UniProtKB/TrEMBL
  ENST00000426918.2 UniProtKB/TrEMBL
  ENST00000456584.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
  putative rabgap domain of human tbc1 domain family member 14 like domains UniProtKB/Swiss-Prot
  Ypt/Rab-GAP domain of gyp1p, domain 1 UniProtKB/Swiss-Prot
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000011454 GTEx
HGNC ID HGNC:17155 ENTREZGENE
Human Proteome Map RABGAP1 Human Proteome Map
InterPro Kinesin-like UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PTB/PI_dom UniProtKB/Swiss-Prot
  Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23637 UniProtKB/Swiss-Prot
NCBI Gene 23637 ENTREZGENE
OMIM 615882 OMIM
PANTHER RAB GTPASE-ACTIVATING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB GTPASE-ACTIVATING PROTEIN 1-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3694 UniProtKB/Swiss-Prot
  PID UniProtKB/Swiss-Prot
  RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134977298 PharmGKB
PROSITE PID UniProtKB/Swiss-Prot
  TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTB UniProtKB/Swiss-Prot
  TBC UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
  SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5MCD9_HUMAN UniProtKB/TrEMBL
  B7Z2B4 ENTREZGENE, UniProtKB/TrEMBL
  B9A6L2 ENTREZGENE
  C9JGR5_HUMAN UniProtKB/TrEMBL
  Q05CW2 ENTREZGENE
  Q6ZMY1 ENTREZGENE
  Q9HA28 ENTREZGENE
  Q9P0E2 ENTREZGENE
  Q9UG67 ENTREZGENE
  Q9Y3P9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B9A6L2 UniProtKB/Swiss-Prot
  Q05CW2 UniProtKB/Swiss-Prot
  Q6ZMY1 UniProtKB/Swiss-Prot
  Q9HA28 UniProtKB/Swiss-Prot
  Q9P0E2 UniProtKB/Swiss-Prot
  Q9UG67 UniProtKB/Swiss-Prot