RAPGEF1 (Rap guanine nucleotide exchange factor 1) - Rat Genome Database

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Pathways
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Gene: RAPGEF1 (Rap guanine nucleotide exchange factor 1) Homo sapiens
Analyze
Symbol: RAPGEF1
Name: Rap guanine nucleotide exchange factor 1
RGD ID: 731405
HGNC Page HGNC:4568
Description: Enables guanyl-nucleotide exchange factor activity. Involved in several processes, including Rap protein signal transduction; cellular response to cAMP; and nerve growth factor signaling pathway. Located in early endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C3G; CRK SH3-binding GNRP; DKFZp781P1719; GRF2; guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene); Rap guanine nucleotide exchange factor (GEF) 1
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
GRCh389131,576,775 - 131,740,076 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9131,576,770 - 131,740,076 (-)EnsemblGRCh38hg38GRCh38
GRCh379134,452,162 - 134,615,463 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369133,441,978 - 133,602,746 (-)NCBINCBI36Build 36hg18NCBI36
Celera9104,992,289 - 105,153,075 (-)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9103,946,113 - 104,106,918 (-)NCBIHuRef
CHM1_19134,601,537 - 134,762,344 (-)NCBICHM1_1
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
blood vessel development  (IEA,ISO)
canonical Wnt signaling pathway  (IEA,ISO)
cell surface receptor protein tyrosine kinase signaling pathway  (TAS)
cell-cell adhesion  (IEA,ISO)
cellular response to cAMP  (IDA)
cellular response to nerve growth factor stimulus  (IDA)
ERK1 and ERK2 cascade  (IEA,ISO)
establishment of endothelial barrier  (IMP)
negative regulation of canonical Wnt signaling pathway  (IEA,ISO)
negative regulation of ERK1 and ERK2 cascade  (IEA,ISO)
negative regulation of neural precursor cell proliferation  (IEA,ISO)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
negative regulation of Ras protein signal transduction  (IEA,ISO)
nerve growth factor signaling pathway  (IDA)
nervous system development  (IEA)
neural precursor cell proliferation  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
platelet-derived growth factor receptor signaling pathway  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of Fc receptor mediated stimulatory signaling pathway  (ISO)
positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis  (IEA)
positive regulation of neuron projection development  (IEA,IMP,ISO)
positive regulation of phagocytosis  (ISO)
Rap protein signal transduction  (IMP)
Ras protein signal transduction  (IBA,IEA,ISO)
regulation of cell junction assembly  (IMP)
regulation of JNK cascade  (IEA,ISO)
signal transduction  (NAS)
small GTPase-mediated signal transduction  (IEA)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. The Ras-mitogen-activated protein kinase pathway is critical for the activation of matrix metalloproteinase secretion and the invasiveness in v-crk-transformed 3Y1. Liu E, etal., Cancer Res. 2000 May 1;60(9):2361-4.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Endothelin signaling via guanine exchange factor C3G in renal glomerular mesangial cells. Rufanova VA, etal., Can J Physiol Pharmacol. 2010 Aug;88(8):808-16. doi: 10.1139/Y10-056.
7. C3G overexpression in glomerular epithelial cells during anti-GBM-induced glomerulonephritis. Rufanova VA, etal., Kidney Int. 2009 Jan;75(1):31-40. doi: 10.1038/ki.2008.448. Epub 2008 Sep 10.
8. Rho GTPases in insulin-stimulated glucose uptake. Satoh T Small GTPases. 2014;5:e28102. doi: 10.4161/sgtp.28102. Epub 2014 Mar 10.
Additional References at PubMed
PMID:7512734   PMID:7531694   PMID:7806500   PMID:7959692   PMID:8524240   PMID:8621483   PMID:8662907   PMID:8943292   PMID:8978305   PMID:9067577   PMID:9069267   PMID:9129019  
PMID:9178909   PMID:9266971   PMID:9311917   PMID:9344843   PMID:9374471   PMID:9482107   PMID:9497377   PMID:9498705   PMID:9546424   PMID:9564038   PMID:9748234   PMID:9820532  
PMID:10318861   PMID:10464310   PMID:10514505   PMID:10548487   PMID:10608804   PMID:10753869   PMID:10907644   PMID:11167825   PMID:11309621   PMID:11466412   PMID:11870224   PMID:12054111  
PMID:12384139   PMID:12477932   PMID:12697763   PMID:12734187   PMID:14551197   PMID:14702039   PMID:15077165   PMID:15138850   PMID:15144186   PMID:15146197   PMID:15320955   PMID:15856025  
PMID:16284401   PMID:16443220   PMID:16681758   PMID:17081983   PMID:17456239   PMID:17474147   PMID:17515907   PMID:17724123   PMID:17825818   PMID:18187620   PMID:18660489   PMID:18809728  
PMID:18832707   PMID:18835194   PMID:19001122   PMID:19297053   PMID:19324082   PMID:19380743   PMID:20190816   PMID:20379614   PMID:20416077   PMID:20436929   PMID:20581864   PMID:20936779  
PMID:21146886   PMID:21223981   PMID:21399874   PMID:21628423   PMID:21840392   PMID:21873635   PMID:21876762   PMID:21988832   PMID:22658674   PMID:22659131   PMID:23275563   PMID:24658140  
PMID:25402006   PMID:25617801   PMID:26496610   PMID:27286263   PMID:29507755   PMID:30480076   PMID:30567575   PMID:30639242   PMID:31871319   PMID:31980649   PMID:32371504   PMID:32513696  
PMID:32873726   PMID:33450305   PMID:33834495   PMID:33961781   PMID:34947971   PMID:35256949   PMID:35748872   PMID:36215168   PMID:36720192   PMID:37635193  


Genomics

Comparative Map Data
RAPGEF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389131,576,775 - 131,740,076 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9131,576,770 - 131,740,076 (-)EnsemblGRCh38hg38GRCh38
GRCh379134,452,162 - 134,615,463 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369133,441,978 - 133,602,746 (-)NCBINCBI36Build 36hg18NCBI36
Celera9104,992,289 - 105,153,075 (-)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9103,946,113 - 104,106,918 (-)NCBIHuRef
CHM1_19134,601,537 - 134,762,344 (-)NCBICHM1_1
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBIT2T-CHM13v2.0
Rapgef1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39229,509,732 - 29,630,376 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl229,509,732 - 29,630,990 (+)EnsemblGRCm39 Ensembl
GRCm38229,619,720 - 29,740,364 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl229,619,720 - 29,740,978 (+)EnsemblGRCm38mm10GRCm38
MGSCv37229,475,240 - 29,595,883 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36229,441,729 - 29,562,372 (+)NCBIMGSCv36mm8
Celera229,325,793 - 29,447,456 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map220.32NCBI
Rapgef1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8333,296,211 - 33,414,119 (+)NCBIGRCr8
mRatBN7.2312,898,349 - 13,016,234 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl312,898,266 - 13,013,984 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.038,189,594 - 8,307,077 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl38,192,575 - 8,304,976 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0313,534,547 - 13,650,426 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.438,634,764 - 8,680,197 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera37,697,182 - 7,794,443 (+)NCBICelera
Cytogenetic Map3p12NCBI
Rapgef1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555131,226,205 - 1,315,922 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555131,224,418 - 1,328,176 (-)NCBIChiLan1.0ChiLan1.0
RAPGEF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2117,615,567 - 7,778,048 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan197,617,923 - 7,780,395 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09102,698,970 - 102,861,482 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19131,337,001 - 131,468,336 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9131,337,001 - 131,495,664 (-)Ensemblpanpan1.1panPan2
RAPGEF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1952,429,204 - 52,566,775 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl952,450,597 - 52,563,778 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha951,696,813 - 51,835,167 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0953,332,127 - 53,471,097 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl953,332,194 - 53,469,116 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1952,105,371 - 52,243,070 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0952,430,365 - 52,567,934 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0952,522,579 - 52,661,232 (+)NCBIUU_Cfam_GSD_1.0
Rapgef1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947198,537,011 - 198,642,163 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648718,305,488 - 18,410,952 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648718,305,537 - 18,411,170 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAPGEF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1271,494,248 - 271,600,920 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11271,494,243 - 271,624,609 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21305,502,204 - 305,633,055 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAPGEF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1126,407,030 - 6,566,200 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl126,437,454 - 6,567,436 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660798,999,335 - 9,158,519 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rapgef1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247604,376,713 - 4,474,837 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247604,376,733 - 4,474,834 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAPGEF1
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
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(chr9:122792658-138124532)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 9q33.2-34.3(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 9q34.13(chr9:131702422-132271840)x3 copy number gain See cases [RCV000052258] Chr9:131702422..132271840 [GRCh38]
Chr9:134577809..135147227 [GRCh37]
Chr9:133567630..134137048 [NCBI36]
Chr9:9q34.13		 uncertain significance
GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 copy number loss See cases [RCV000052935] Chr9:129949815..132342490 [GRCh38]
Chr9:132712094..135217877 [GRCh37]
Chr9:131751915..134207698 [NCBI36]
Chr9:9q34.11-34.13		 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 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3 copy number gain See cases [RCV000053780] Chr9:131261516..131741175 [GRCh38]
Chr9:134136903..134616562 [GRCh37]
Chr9:133126724..133606383 [NCBI36]
Chr9:9q34.13		 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 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2		 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 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
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 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 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 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
NM_001377935.1(RAPGEF1):c.1712A>G (p.Tyr571Cys) single nucleotide variant Monoclonal B-Cell Lymphocytosis [RCV000208572]|not provided [RCV001093195] Chr9:131621989 [GRCh38]
Chr9:134497376 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13(chr9:134353309-134839944)x3 copy number gain See cases [RCV000239893] Chr9:134353309..134839944 [GRCh37]
Chr9:9q34.13		 uncertain significance
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
NM_001377935.1(RAPGEF1):c.1505A>G (p.Tyr502Cys) single nucleotide variant not provided [RCV001804189] Chr9:131626119 [GRCh38]
Chr9:134501506 [GRCh37]
Chr9:9q34.13		 uncertain significance
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 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 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 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
NM_001377935.1(RAPGEF1):c.3776G>A (p.Arg1259Gln) single nucleotide variant Inborn genetic diseases [RCV003245729] Chr9:131579513 [GRCh38]
Chr9:134454900 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.834G>A (p.Thr278=) single nucleotide variant not provided [RCV000883156] Chr9:131629161 [GRCh38]
Chr9:134504548 [GRCh37]
Chr9:9q34.13		 benign
NM_001377935.1(RAPGEF1):c.2649G>A (p.Gly883=) single nucleotide variant not provided [RCV000881743] Chr9:131596338 [GRCh38]
Chr9:134471725 [GRCh37]
Chr9:9q34.13		 benign
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) copy number loss not provided [RCV000767561] Chr9:131670024..134514071 [GRCh37]
Chr9:9q34.11-34.13		 likely pathogenic
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
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
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
NM_001377935.1(RAPGEF1):c.2748G>C (p.Glu916Asp) single nucleotide variant Inborn genetic diseases [RCV003292973] Chr9:131592125 [GRCh38]
Chr9:134467512 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1855G>A (p.Val619Met) single nucleotide variant Inborn genetic diseases [RCV003252571] Chr9:131621846 [GRCh38]
Chr9:134497233 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.*908C>T single nucleotide variant not provided [RCV001685188] Chr9:131578589 [GRCh38]
Chr9:134453976 [GRCh37]
Chr9:9q34.13		 benign
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
NC_000009.11:g.(?_133884602)_(135942612_?)dup duplication not provided [RCV003116502] Chr9:133884602..135942612 [GRCh37]
Chr9:9q34.12-34.2		 uncertain significance
NC_000009.11:g.(?_131857676)_(135942612_?)dup duplication not provided [RCV003116730] Chr9:131857676..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_001377935.1(RAPGEF1):c.1555G>A (p.Val519Ile) single nucleotide variant Inborn genetic diseases [RCV002859225] Chr9:131626069 [GRCh38]
Chr9:134501456 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1871C>T (p.Pro624Leu) single nucleotide variant Inborn genetic diseases [RCV002946429] Chr9:131621830 [GRCh38]
Chr9:134497217 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.2933A>C (p.Asn978Thr) single nucleotide variant Inborn genetic diseases [RCV002865901] Chr9:131588921 [GRCh38]
Chr9:134464308 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.2627C>T (p.Pro876Leu) single nucleotide variant Inborn genetic diseases [RCV002689118] Chr9:131596360 [GRCh38]
Chr9:134471747 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1406C>T (p.Thr469Met) single nucleotide variant Inborn genetic diseases [RCV002970187] Chr9:131626218 [GRCh38]
Chr9:134501605 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.3250A>G (p.Met1084Val) single nucleotide variant Inborn genetic diseases [RCV002859338] Chr9:131584580 [GRCh38]
Chr9:134459967 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1472G>A (p.Cys491Tyr) single nucleotide variant Inborn genetic diseases [RCV002865607] Chr9:131626152 [GRCh38]
Chr9:134501539 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1654G>A (p.Gly552Ser) single nucleotide variant Inborn genetic diseases [RCV002689570] Chr9:131625970 [GRCh38]
Chr9:134501357 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.3056C>T (p.Pro1019Leu) single nucleotide variant Inborn genetic diseases [RCV002868756] Chr9:131588024 [GRCh38]
Chr9:134463411 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1087C>A (p.Pro363Thr) single nucleotide variant Inborn genetic diseases [RCV002868373] Chr9:131628027 [GRCh38]
Chr9:134503414 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1079G>A (p.Gly360Glu) single nucleotide variant Inborn genetic diseases [RCV003001562] Chr9:131628035 [GRCh38]
Chr9:134503422 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1090C>T (p.Arg364Cys) single nucleotide variant Inborn genetic diseases [RCV002869609] Chr9:131628024 [GRCh38]
Chr9:134503411 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.812C>G (p.Thr271Ser) single nucleotide variant Inborn genetic diseases [RCV002703927] Chr9:131629183 [GRCh38]
Chr9:134504570 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1208A>G (p.Tyr403Cys) single nucleotide variant Inborn genetic diseases [RCV002826029] Chr9:131626416 [GRCh38]
Chr9:134501803 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.2698T>G (p.Leu900Val) single nucleotide variant Inborn genetic diseases [RCV002916034] Chr9:131592175 [GRCh38]
Chr9:134467562 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.3084T>G (p.His1028Gln) single nucleotide variant Inborn genetic diseases [RCV002850299] Chr9:131587996 [GRCh38]
Chr9:134463383 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.3494C>T (p.Pro1165Leu) single nucleotide variant Inborn genetic diseases [RCV002812985] Chr9:131582623 [GRCh38]
Chr9:134458010 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.2515C>G (p.Pro839Ala) single nucleotide variant Inborn genetic diseases [RCV002836390] Chr9:131598297 [GRCh38]
Chr9:134473684 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.2933A>G (p.Asn978Ser) single nucleotide variant Inborn genetic diseases [RCV002668815] Chr9:131588921 [GRCh38]
Chr9:134464308 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001377935.1(RAPGEF1):c.1753A>G (p.Met585Val) single nucleotide variant Inborn genetic diseases [RCV002809965] Chr9:131621948 [GRCh38]
Chr9:134497335 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.3040G>C (p.Gly1014Arg) single nucleotide variant Inborn genetic diseases [RCV002673526] Chr9:131588814 [GRCh38]
Chr9:134464201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1305G>C (p.Leu435Phe) single nucleotide variant Inborn genetic diseases [RCV002940038] Chr9:131626319 [GRCh38]
Chr9:134501706 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.757C>A (p.Leu253Met) single nucleotide variant Inborn genetic diseases [RCV002678960] Chr9:131629238 [GRCh38]
Chr9:134504625 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.976G>C (p.Ala326Pro) single nucleotide variant Inborn genetic diseases [RCV002678058] Chr9:131628590 [GRCh38]
Chr9:134503977 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.1462G>A (p.Gly488Ser) single nucleotide variant Inborn genetic diseases [RCV003174295] Chr9:131626162 [GRCh38]
Chr9:134501549 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001377935.1(RAPGEF1):c.3392A>C (p.Glu1131Ala) single nucleotide variant Inborn genetic diseases [RCV003217992] Chr9:131584333 [GRCh38]
Chr9:134459720 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.2467G>A (p.Val823Ile) single nucleotide variant Inborn genetic diseases [RCV003340320] Chr9:131602095 [GRCh38]
Chr9:134477482 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.158C>T (p.Pro53Leu) single nucleotide variant Inborn genetic diseases [RCV003361655] Chr9:131650853 [GRCh38]
Chr9:134526240 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.752T>G (p.Leu251Arg) single nucleotide variant Inborn genetic diseases [RCV003385959] Chr9:131629243 [GRCh38]
Chr9:134504630 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.601A>G (p.Met201Val) single nucleotide variant not provided [RCV003425837] Chr9:131638685 [GRCh38]
Chr9:134514072 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001377935.1(RAPGEF1):c.3251T>C (p.Met1084Thr) single nucleotide variant not provided [RCV003430331] Chr9:131584579 [GRCh38]
Chr9:134459966 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13(chr9:134382079-134513578)x1 copy number loss not specified [RCV003986840] Chr9:134382079..134513578 [GRCh37]
Chr9:9q34.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6076
Count of miRNA genes:1071
Interacting mature miRNAs:1330
Transcripts:ENST00000372189, ENST00000372190, ENST00000372195, ENST00000414781, ENST00000419442, ENST00000427994, ENST00000438647, ENST00000481260
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
SHGC-34480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,535,841 - 134,535,990UniSTSGRCh37
Build 369133,525,662 - 133,525,811RGDNCBI36
Celera9105,075,994 - 105,076,143RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,029,827 - 104,029,976UniSTS
Stanford-G3 RH Map94903.0UniSTS
GeneMap99-GB4 RH Map9403.79UniSTS
Whitehead-RH Map9485.2UniSTS
NCBI RH Map91226.8UniSTS
GeneMap99-G3 RH Map94801.0UniSTS
RH70308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,590,482 - 134,590,645UniSTSGRCh37
Build 369133,580,303 - 133,580,466RGDNCBI36
Celera9105,130,635 - 105,130,798RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,084,479 - 104,084,642UniSTS
GeneMap99-GB4 RH Map9405.53UniSTS
NCBI RH Map91251.9UniSTS
STS-D21239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,454,466 - 134,454,654UniSTSGRCh37
Build 369133,444,287 - 133,444,475RGDNCBI36
Celera9104,994,598 - 104,994,786RGD
Cytogenetic Map9q34.3UniSTS
HuRef9103,948,422 - 103,948,610UniSTS
GeneMap99-GB4 RH Map9403.9UniSTS
NCBI RH Map91200.7UniSTS
SHGC-85759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,588,550 - 134,588,844UniSTSGRCh37
Build 369133,578,371 - 133,578,665RGDNCBI36
Celera9105,128,705 - 105,128,999RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,082,550 - 104,082,844UniSTS
TNG Radiation Hybrid Map951440.0UniSTS
SHGC-84926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,554,523 - 134,554,841UniSTSGRCh37
Build 369133,544,344 - 133,544,662RGDNCBI36
Celera9105,094,675 - 105,094,993RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,048,509 - 104,048,827UniSTS
TNG Radiation Hybrid Map951423.0UniSTS
G60020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,538,887 - 134,538,992UniSTSGRCh37
Build 369133,528,708 - 133,528,813RGDNCBI36
Celera9105,079,040 - 105,079,145RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,032,874 - 104,032,979UniSTS
TNG Radiation Hybrid Map951415.0UniSTS
SHGC-147667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,469,357 - 134,469,673UniSTSGRCh37
Build 369133,459,178 - 133,459,494RGDNCBI36
Celera9105,009,500 - 105,009,816RGD
Cytogenetic Map9q34.3UniSTS
HuRef9103,963,333 - 103,963,649UniSTS
TNG Radiation Hybrid Map951372.0UniSTS
SHGC-148792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,489,627 - 134,489,959UniSTSGRCh37
Build 369133,479,448 - 133,479,780RGDNCBI36
Celera9105,029,777 - 105,030,109RGD
Cytogenetic Map9q34.3UniSTS
HuRef9103,983,609 - 103,983,941UniSTS
TNG Radiation Hybrid Map951388.0UniSTS
D9S2054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,452,206 - 134,452,344UniSTSGRCh37
Build 369133,442,027 - 133,442,165RGDNCBI36
Celera9104,992,338 - 104,992,476RGD
Cytogenetic Map9q34.3UniSTS
HuRef9103,946,162 - 103,946,300UniSTS
TNG Radiation Hybrid Map951345.0UniSTS
Stanford-G3 RH Map94908.0UniSTS
NCBI RH Map91226.8UniSTS
GeneMap99-G3 RH Map94806.0UniSTS
RH11721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,452,206 - 134,452,410UniSTSGRCh37
Build 369133,442,027 - 133,442,231RGDNCBI36
Celera9104,992,338 - 104,992,542RGD
Cytogenetic Map9q34.3UniSTS
HuRef9103,946,162 - 103,946,366UniSTS
GeneMap99-GB4 RH Map9403.9UniSTS
NCBI RH Map91200.7UniSTS
D12S288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,660,359 - 66,660,517UniSTSGRCh37
GRCh379134,517,947 - 134,518,103UniSTSGRCh37
Build 369133,507,768 - 133,507,924RGDNCBI36
Celera9105,058,100 - 105,058,256RGD
Celera1266,324,593 - 66,324,751UniSTS
Cytogenetic Map9q34.3UniSTS
HuRef9104,011,933 - 104,012,089UniSTS
HuRef1263,711,199 - 63,711,369UniSTS
Stanford-G3 RH Map122545.0UniSTS
NCBI RH Map12483.7UniSTS
RH48515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,538,876 - 134,538,997UniSTSGRCh37
Build 369133,528,697 - 133,528,818RGDNCBI36
Celera9105,079,029 - 105,079,150RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,032,863 - 104,032,984UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
RH65780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,584,802 - 134,584,982UniSTSGRCh37
Build 369133,574,623 - 133,574,803RGDNCBI36
Celera9105,124,957 - 105,125,137RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,078,799 - 104,078,979UniSTS
GeneMap99-GB4 RH Map9405.32UniSTS
A002Q14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,452,256 - 134,452,452UniSTSGRCh37
Build 369133,442,077 - 133,442,273RGDNCBI36
Celera9104,992,388 - 104,992,584RGD
Cytogenetic Map9q34.3UniSTS
HuRef9103,946,212 - 103,946,408UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
RH16486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,535,873 - 134,536,058UniSTSGRCh37
Build 369133,525,694 - 133,525,879RGDNCBI36
Celera9105,076,026 - 105,076,211RGD
Cytogenetic Map9q34.3UniSTS
HuRef9104,029,859 - 104,030,044UniSTS
GeneMap99-GB4 RH Map9403.9UniSTS
NCBI RH Map91200.7UniSTS
D1S3697  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q12UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map3p21.31-p21.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map1p36.13UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2426 2898 1567 469 1885 316 4346 2165 3525 389 1434 1602 166 1204 2786 4
Low 8 93 157 153 62 148 9 31 191 29 17 8 6 2 2
Below cutoff 2 2 1 9 1 6 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA761516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF467069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF058595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG429001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG546427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ054243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ772947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN360609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX533477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372189   ⟹   ENSP00000361263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,576,770 - 131,737,538 (-)Ensembl
RefSeq Acc Id: ENST00000372190   ⟹   ENSP00000361264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,576,775 - 131,709,842 (-)Ensembl
RefSeq Acc Id: ENST00000372195   ⟹   ENSP00000361269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,576,770 - 131,740,074 (-)Ensembl
RefSeq Acc Id: ENST00000414781   ⟹   ENSP00000407210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,587,736 - 131,621,838 (-)Ensembl
RefSeq Acc Id: ENST00000419442   ⟹   ENSP00000394296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,576,770 - 131,628,013 (-)Ensembl
RefSeq Acc Id: ENST00000438647   ⟹   ENSP00000410640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,638,698 - 131,739,944 (-)Ensembl
RefSeq Acc Id: ENST00000481260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,626,160 - 131,643,391 (-)Ensembl
RefSeq Acc Id: ENST00000683357   ⟹   ENSP00000508246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9131,576,775 - 131,740,076 (-)Ensembl
RefSeq Acc Id: NM_001304275   ⟹   NP_001291204
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,740,076 (-)NCBI
CHM1_19134,601,537 - 134,764,677 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377935   ⟹   NP_001364864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,740,076 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377936   ⟹   NP_001364865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,651,403 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,864,356 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377937   ⟹   NP_001364866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,740,076 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377938   ⟹   NP_001364867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,740,076 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005312   ⟹   NP_005303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,737,447 (-)NCBI
GRCh379134,452,157 - 134,615,364 (-)NCBI
Build 369133,441,978 - 133,602,746 (-)NCBI Archive
HuRef9103,946,113 - 104,106,918 (-)ENTREZGENE
CHM1_19134,601,537 - 134,762,344 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,950,364 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198679   ⟹   NP_941372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,709,842 (-)NCBI
GRCh379134,452,157 - 134,615,364 (-)NCBI
Build 369133,441,978 - 133,575,050 (-)NCBI Archive
HuRef9103,946,113 - 104,106,918 (-)ENTREZGENE
CHM1_19134,601,537 - 134,734,628 (-)NCBI
T2T-CHM13v2.09143,789,743 - 143,922,806 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272186   ⟹   XP_005272243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,740,076 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717067   ⟹   XP_006717130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717072   ⟹   XP_006717135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717074   ⟹   XP_006717137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518571   ⟹   XP_011516873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,709,842 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518572   ⟹   XP_011516874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,740,076 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518576   ⟹   XP_011516878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518577   ⟹   XP_011516879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518578   ⟹   XP_011516880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518579   ⟹   XP_011516881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518581   ⟹   XP_011516883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,598,234 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518582   ⟹   XP_011516884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,619,051 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014633   ⟹   XP_016870122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,737,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014635   ⟹   XP_016870124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,668,452 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014636   ⟹   XP_016870125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,668,452 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447521   ⟹   XP_024303289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423251   ⟹   XP_047279207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,709,842 (-)NCBI
RefSeq Acc Id: XM_047423252   ⟹   XP_047279208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,737,447 (-)NCBI
RefSeq Acc Id: XM_047423253   ⟹   XP_047279209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
RefSeq Acc Id: XM_047423254   ⟹   XP_047279210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,576,775 - 131,676,835 (-)NCBI
RefSeq Acc Id: XM_047423255   ⟹   XP_047279211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,619,051 - 131,676,835 (-)NCBI
RefSeq Acc Id: XM_047423256   ⟹   XP_047279212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,619,326 - 131,740,076 (-)NCBI
RefSeq Acc Id: XM_054362780   ⟹   XP_054218755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,922,806 (-)NCBI
RefSeq Acc Id: XM_054362781   ⟹   XP_054218756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBI
RefSeq Acc Id: XM_054362782   ⟹   XP_054218757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,011 (-)NCBI
RefSeq Acc Id: XM_054362783   ⟹   XP_054218758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,952,984 (-)NCBI
RefSeq Acc Id: XM_054362784   ⟹   XP_054218759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,950,364 (-)NCBI
RefSeq Acc Id: XM_054362785   ⟹   XP_054218760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,881,334 (-)NCBI
RefSeq Acc Id: XM_054362786   ⟹   XP_054218761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,011 (-)NCBI
RefSeq Acc Id: XM_054362787   ⟹   XP_054218762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,922,806 (-)NCBI
RefSeq Acc Id: XM_054362788   ⟹   XP_054218763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,950,364 (-)NCBI
RefSeq Acc Id: XM_054362789   ⟹   XP_054218764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,009 (-)NCBI
RefSeq Acc Id: XM_054362790   ⟹   XP_054218765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,009 (-)NCBI
RefSeq Acc Id: XM_054362791   ⟹   XP_054218766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,008 (-)NCBI
RefSeq Acc Id: XM_054362792   ⟹   XP_054218767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,007 (-)NCBI
RefSeq Acc Id: XM_054362793   ⟹   XP_054218768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,006 (-)NCBI
RefSeq Acc Id: XM_054362794   ⟹   XP_054218769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,005 (-)NCBI
RefSeq Acc Id: XM_054362795   ⟹   XP_054218770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,007 (-)NCBI
RefSeq Acc Id: XM_054362796   ⟹   XP_054218771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,789,743 - 143,890,005 (-)NCBI
RefSeq Acc Id: XM_054362797   ⟹   XP_054218772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,811,214 - 143,890,014 (-)NCBI
RefSeq Acc Id: XM_054362798   ⟹   XP_054218773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,832,028 - 143,890,014 (-)NCBI
RefSeq Acc Id: XM_054362799   ⟹   XP_054218774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,832,028 - 143,890,012 (-)NCBI
RefSeq Acc Id: XM_054362800   ⟹   XP_054218775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09143,832,360 - 143,952,984 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001291204 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364864 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364865 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364866 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364867 (Get FASTA)   NCBI Sequence Viewer  
  NP_005303 (Get FASTA)   NCBI Sequence Viewer  
  NP_941372 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272243 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717130 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717135 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717137 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516873 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516874 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516878 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516879 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516880 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516881 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516883 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516884 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870122 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870124 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870125 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279207 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279208 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279209 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279210 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279211 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218755 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218756 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218758 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218760 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218761 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218762 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218763 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218764 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218765 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218766 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218767 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218768 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218769 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218770 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218771 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218772 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218773 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218775 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH41710 (Get FASTA)   NCBI Sequence Viewer  
  AAP97718 (Get FASTA)   NCBI Sequence Viewer  
  ABL59904 (Get FASTA)   NCBI Sequence Viewer  
  ABL59905 (Get FASTA)   NCBI Sequence Viewer  
  ABL59906 (Get FASTA)   NCBI Sequence Viewer  
  ABL59907 (Get FASTA)   NCBI Sequence Viewer  
  ABL59908 (Get FASTA)   NCBI Sequence Viewer  
  ABL59909 (Get FASTA)   NCBI Sequence Viewer  
  ABL59910 (Get FASTA)   NCBI Sequence Viewer  
  ABL59911 (Get FASTA)   NCBI Sequence Viewer  
  AQN67631 (Get FASTA)   NCBI Sequence Viewer  
  BAA04770 (Get FASTA)   NCBI Sequence Viewer  
  BAG63974 (Get FASTA)   NCBI Sequence Viewer  
  CAH18207 (Get FASTA)   NCBI Sequence Viewer  
  EAW87985 (Get FASTA)   NCBI Sequence Viewer  
  EAW87986 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000361263
  ENSP00000361263.2
  ENSP00000361264
  ENSP00000361264.3
  ENSP00000361269
  ENSP00000361269.1
  ENSP00000407210.1
  ENSP00000410640.1
  ENSP00000508246
  ENSP00000508246.1
GenBank Protein Q13905 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005303   ⟸   NM_005312
- Peptide Label: isoform a
- UniProtKB: Q68DL3 (UniProtKB/Swiss-Prot),   Q5JUE4 (UniProtKB/Swiss-Prot),   Q8IV73 (UniProtKB/Swiss-Prot),   Q13905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_941372   ⟸   NM_198679
- Peptide Label: isoform b
- UniProtKB: Q13905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272243   ⟸   XM_005272186
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006717135   ⟸   XM_006717072
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006717130   ⟸   XM_006717067
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006717137   ⟸   XM_006717074
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: NP_001291204   ⟸   NM_001304275
- Peptide Label: isoform c
- UniProtKB: Q13905 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516874   ⟸   XM_011518572
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516873   ⟸   XM_011518571
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011516881   ⟸   XM_011518579
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011516880   ⟸   XM_011518578
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011516879   ⟸   XM_011518577
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011516878   ⟸   XM_011518576
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011516883   ⟸   XM_011518581
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_011516884   ⟸   XM_011518582
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016870122   ⟸   XM_017014633
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016870124   ⟸   XM_017014635
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870125   ⟸   XM_017014636
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024303289   ⟸   XM_024447521
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: NP_001364866   ⟸   NM_001377937
- Peptide Label: isoform f
RefSeq Acc Id: NP_001364867   ⟸   NM_001377938
- Peptide Label: isoform g
RefSeq Acc Id: NP_001364864   ⟸   NM_001377935
- Peptide Label: isoform d
- UniProtKB: A0A804HL87 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364865   ⟸   NM_001377936
- Peptide Label: isoform e
- UniProtKB: A0A1S5UYZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000410640   ⟸   ENST00000438647
RefSeq Acc Id: ENSP00000361263   ⟸   ENST00000372189
RefSeq Acc Id: ENSP00000361264   ⟸   ENST00000372190
RefSeq Acc Id: ENSP00000361269   ⟸   ENST00000372195
RefSeq Acc Id: ENSP00000407210   ⟸   ENST00000414781
RefSeq Acc Id: ENSP00000394296   ⟸   ENST00000419442
RefSeq Acc Id: ENSP00000508246   ⟸   ENST00000683357
RefSeq Acc Id: XP_047279208   ⟸   XM_047423252
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047279207   ⟸   XM_047423251
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279210   ⟸   XM_047423254
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047279209   ⟸   XM_047423253
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047279211   ⟸   XM_047423255
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047279212   ⟸   XM_047423256
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054218758   ⟸   XM_054362783
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218756   ⟸   XM_054362781
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218763   ⟸   XM_054362788
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054218759   ⟸   XM_054362784
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218762   ⟸   XM_054362787
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054218755   ⟸   XM_054362780
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218761   ⟸   XM_054362786
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218757   ⟸   XM_054362782
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218765   ⟸   XM_054362790
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054218764   ⟸   XM_054362789
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054218766   ⟸   XM_054362791
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054218770   ⟸   XM_054362795
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054218767   ⟸   XM_054362792
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054218768   ⟸   XM_054362793
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054218771   ⟸   XM_054362796
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054218769   ⟸   XM_054362794
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054218760   ⟸   XM_054362785
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218772   ⟸   XM_054362797
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054218773   ⟸   XM_054362798
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054218774   ⟸   XM_054362799
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054218775   ⟸   XM_054362800
- Peptide Label: isoform X22
Protein Domains
N-terminal Ras-GEF   Ras-GEF

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13905-F1-model_v2 AlphaFold Q13905 1-1077 view protein structure

Promoters
RGD ID:7216441
Promoter ID:EPDNEW_H13967
Type:initiation region
Name:RAPGEF1_2
Description:Rap guanine nucleotide exchange factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13968  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,709,742 - 131,709,802EPDNEW
RGD ID:7216443
Promoter ID:EPDNEW_H13968
Type:initiation region
Name:RAPGEF1_1
Description:Rap guanine nucleotide exchange factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,740,065 - 131,740,125EPDNEW
RGD ID:6813691
Promoter ID:HG_ACW:82730
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:RAPGEF1.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,454,416 - 133,455,317 (-)MPROMDB
RGD ID:6808030
Promoter ID:HG_KWN:65370
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000054764,   UC010MZL.1,   UC010MZM.1,   UC010MZN.1,   UC010MZO.1,   UC010MZP.1,   UC010MZQ.1,   UC010MZR.1,   UC010MZS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,486,796 - 133,488,032 (-)MPROMDB
RGD ID:6808031
Promoter ID:HG_KWN:65371
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000054765
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,490,736 - 133,491,607 (-)MPROMDB
RGD ID:6808027
Promoter ID:HG_KWN:65372
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000054763,   OTTHUMT00000054766
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,508,136 - 133,509,337 (-)MPROMDB
RGD ID:6814820
Promoter ID:HG_XEF:8448
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001045665,   NM_201126
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,516,244 - 133,516,744 (-)MPROMDB
RGD ID:6808029
Promoter ID:HG_KWN:65373
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000337036,   ENST00000357686,   ENST00000372190,   ENST00000372191,   NM_198679,   OTTHUMT00000054762
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,574,776 - 133,575,427 (-)MPROMDB
RGD ID:6808028
Promoter ID:HG_KWN:65375
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000372189,   NM_005312
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,602,306 - 133,602,806 (-)MPROMDB
RGD ID:6808035
Promoter ID:HG_KWN:65376
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372195,   ENST00000398415,   OTTHUMT00000054761,   UC004CBD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,604,786 - 133,605,432 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4568 AgrOrtholog
COSMIC RAPGEF1 COSMIC
Ensembl Genes ENSG00000107263 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372189 ENTREZGENE
  ENST00000372189.7 UniProtKB/Swiss-Prot
  ENST00000372190 ENTREZGENE
  ENST00000372190.8 UniProtKB/Swiss-Prot
  ENST00000372195 ENTREZGENE
  ENST00000372195.5 UniProtKB/Swiss-Prot
  ENST00000414781.1 UniProtKB/TrEMBL
  ENST00000419442 ENTREZGENE
  ENST00000438647.3 UniProtKB/TrEMBL
  ENST00000683357 ENTREZGENE
  ENST00000683357.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.840.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Son of sevenless (SoS) protein Chain: S domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107263 GTEx
HGNC ID HGNC:4568 ENTREZGENE
Human Proteome Map RAPGEF1 Human Proteome Map
InterPro Ras-like_GEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ras-like_Gua-exchang_fac_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ras_G-nucl-exch_fac_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ras_GEF_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RASGEF_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RASGEF_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2889 UniProtKB/Swiss-Prot
NCBI Gene 2889 ENTREZGENE
OMIM 600303 OMIM
PANTHER PTHR23113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RasGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGEF_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28964 PharmGKB
PROSITE RASGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RASGEF_CAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RASGEF_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RasGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RasGEFN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1S5UYZ7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HL87 ENTREZGENE, UniProtKB/TrEMBL
  A5XEI4_HUMAN UniProtKB/TrEMBL
  A5XEI5_HUMAN UniProtKB/TrEMBL
  A5XEI6_HUMAN UniProtKB/TrEMBL
  A5XEI7_HUMAN UniProtKB/TrEMBL
  A5XEI8_HUMAN UniProtKB/TrEMBL
  A5XEI9_HUMAN UniProtKB/TrEMBL
  A5XEJ0_HUMAN UniProtKB/TrEMBL
  A5XEJ1_HUMAN UniProtKB/TrEMBL
  H0Y6R4_HUMAN UniProtKB/TrEMBL
  Q13905 ENTREZGENE
  Q5JUE4 ENTREZGENE
  Q5JUE9_HUMAN UniProtKB/TrEMBL
  Q68DL3 ENTREZGENE
  Q8IV73 ENTREZGENE
  RPGF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5JUE4 UniProtKB/Swiss-Prot
  Q68DL3 UniProtKB/Swiss-Prot
  Q8IV73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 RAPGEF1  Rap guanine nucleotide exchange factor 1  RAPGEF1  Rap guanine nucleotide exchange factor (GEF) 1  Symbol and/or name change 5135510 APPROVED