ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1) - Rat Genome Database

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Gene: ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1) Homo sapiens
Analyze
Symbol: ARFGEF1
Name: ADP ribosylation factor guanine nucleotide exchange factor 1
RGD ID: 1348298
HGNC Page HGNC
Description: Exhibits guanyl-nucleotide exchange factor activity; myosin binding activity; and protein kinase A regulatory subunit binding activity. Involved in several processes, including negative regulation of GTPase activity; negative regulation of actin filament polymerization; and positive regulation of protein glycosylation in Golgi. Localizes to several cellular components, including Golgi membrane; nucleus; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited); ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited); ARFGEP1; BIG1; brefeldin A-inhibited GEP 1; brefeldin A-inhibited guanine nucleotide-exchange protein 1; D730028O18Rik; DKFZP434L057; P200; p200 ARF guanine nucleotide exchange factor; p200 ARF-GEP1
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
GRCh38.p13 Ensembl867,173,511 - 67,343,781 (-)EnsemblGRCh38hg38GRCh38
GRCh38867,174,298 - 67,343,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37868,109,893 - 68,256,016 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36868,272,451 - 68,418,466 (-)NCBINCBI36hg18NCBI36
Build 34868,272,450 - 68,418,466NCBI
Celera864,103,297 - 64,249,319 (-)NCBI
Cytogenetic Map8q13.2NCBI
HuRef863,601,813 - 63,748,371 (-)NCBIHuRef
CHM1_1868,165,896 - 68,311,968 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:8917509   PMID:10212200   PMID:10393931   PMID:10716990   PMID:11013081   PMID:12571360   PMID:12606707   PMID:14702039   PMID:14973189   PMID:15644318   PMID:16417406  
PMID:16467138   PMID:16866877   PMID:17079330   PMID:17081983   PMID:17227842   PMID:17360629   PMID:18003980   PMID:18029348   PMID:18203920   PMID:18292223   PMID:18417613   PMID:18832381  
PMID:19020088   PMID:19332778   PMID:19651892   PMID:20360857   PMID:20379614   PMID:20668708   PMID:20818722   PMID:21871176   PMID:21873635   PMID:22084092   PMID:22190034   PMID:23220274  
PMID:23386609   PMID:23572552   PMID:23918382   PMID:23956138   PMID:25060954   PMID:25921289   PMID:26186194   PMID:26831064   PMID:27162341   PMID:27373159   PMID:27834853   PMID:28514442  
PMID:29507755   PMID:29568061   PMID:30021884   PMID:30639242   PMID:31073040   PMID:31091453   PMID:31199673   PMID:31240132   PMID:31594818   PMID:32415087   PMID:33845483  


Genomics

Comparative Map Data
ARFGEF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl867,173,511 - 67,343,781 (-)EnsemblGRCh38hg38GRCh38
GRCh38867,174,298 - 67,343,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37868,109,893 - 68,256,016 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36868,272,451 - 68,418,466 (-)NCBINCBI36hg18NCBI36
Build 34868,272,450 - 68,418,466NCBI
Celera864,103,297 - 64,249,319 (-)NCBI
Cytogenetic Map8q13.2NCBI
HuRef863,601,813 - 63,748,371 (-)NCBIHuRef
CHM1_1868,165,896 - 68,311,968 (-)NCBICHM1_1
Arfgef1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39110,207,732 - 10,303,306 (-)NCBIGRCm39mm39
GRCm39 Ensembl110,207,796 - 10,302,895 (-)Ensembl
GRCm38110,137,507 - 10,232,670 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl110,137,571 - 10,232,670 (-)EnsemblGRCm38mm10GRCm38
MGSCv37110,127,588 - 10,222,751 (-)NCBIGRCm37mm9NCBIm37
MGSCv36110,122,721 - 10,218,159 (-)NCBImm8
Celera110,111,100 - 10,206,279 (-)NCBICelera
Cytogenetic Map1A2NCBI
Arfgef1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.258,982,061 - 9,076,326 (+)NCBI
Rnor_6.0 Ensembl58,666,200 - 8,760,458 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.058,666,046 - 8,760,458 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0513,474,381 - 13,568,680 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.458,498,644 - 8,592,918 (+)NCBIRGSC3.4rn4RGSC3.4
Celera58,494,495 - 8,587,878 (+)NCBICelera
Cytogenetic Map5q11NCBI
Arfgef1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544411,986,595 - 12,110,172 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544411,986,595 - 12,110,172 (+)NCBIChiLan1.0ChiLan1.0
ARFGEF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1865,402,117 - 65,546,014 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl865,403,386 - 65,545,789 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0863,740,512 - 63,884,189 (-)NCBIMhudiblu_PPA_v0panPan3
ARFGEF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12916,712,872 - 16,852,478 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2916,708,820 - 16,852,844 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2917,028,251 - 17,168,331 (-)NCBI
ROS_Cfam_1.02916,793,854 - 16,933,903 (-)NCBI
UMICH_Zoey_3.12916,825,243 - 16,966,723 (-)NCBI
UNSW_CanFamBas_1.02916,925,119 - 17,065,181 (-)NCBI
UU_Cfam_GSD_1.02917,182,796 - 17,322,945 (-)NCBI
Arfgef1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530367,870,517 - 67,978,189 (-)NCBI
SpeTri2.0NW_0049364966,807,388 - 6,914,960 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARFGEF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl467,466,014 - 67,639,442 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1467,465,517 - 67,613,611 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2473,526,804 - 73,674,463 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARFGEF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1863,058,504 - 63,204,238 (-)NCBI
ChlSab1.1 Ensembl863,057,200 - 63,204,292 (-)Ensembl
Vero_WHO_p1.0NW_02366603978,298,523 - 78,446,510 (+)NCBI
Arfgef1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474424,010,609 - 24,144,474 (+)NCBI

Position Markers
L17871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37188,653,450 - 8,653,735UniSTSGRCh37
GRCh37868,231,076 - 68,231,695UniSTSGRCh37
Build 36188,643,450 - 8,643,735RGDNCBI36
Celera864,224,485 - 64,225,104UniSTS
Celera188,537,798 - 8,538,083RGD
Cytogenetic Map8q13UniSTS
HuRef188,617,770 - 8,618,054UniSTS
HuRef863,723,237 - 63,723,856UniSTS
G17212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,233,543 - 68,233,677UniSTSGRCh37
Build 36868,396,097 - 68,396,231RGDNCBI36
Celera864,226,952 - 64,227,086RGD
Cytogenetic Map8q13UniSTS
HuRef863,725,701 - 63,725,835UniSTS
RH91158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,948 - 68,110,093UniSTSGRCh37
Build 36868,272,502 - 68,272,647RGDNCBI36
Celera864,103,348 - 64,103,493RGD
Cytogenetic Map8q13UniSTS
HuRef863,601,877 - 63,602,022UniSTS
GeneMap99-GB4 RH Map8344.92UniSTS
RH93991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,110,904 - 68,111,026UniSTSGRCh37
Build 36868,273,458 - 68,273,580RGDNCBI36
Celera864,104,304 - 64,104,426RGD
Cytogenetic Map8q13UniSTS
HuRef863,602,833 - 63,602,955UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS
G59907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,125,602 - 68,125,702UniSTSGRCh37
Build 36868,288,156 - 68,288,256RGDNCBI36
Celera864,119,002 - 64,119,102RGD
Cytogenetic Map8q13UniSTS
HuRef863,617,531 - 63,617,631UniSTS
TNG Radiation Hybrid Map833801.0UniSTS
RH118724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,219,555 - 68,219,833UniSTSGRCh37
Build 36868,382,109 - 68,382,387RGDNCBI36
Celera864,212,950 - 64,213,228RGD
Cytogenetic Map8q13UniSTS
HuRef863,712,330 - 63,712,608UniSTS
TNG Radiation Hybrid Map834455.0UniSTS
D8S1378E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,942 - 68,110,082UniSTSGRCh37
Build 36868,272,496 - 68,272,636RGDNCBI36
Celera864,103,342 - 64,103,482RGD
Cytogenetic Map8q13UniSTS
HuRef863,601,871 - 63,602,011UniSTS
ARFGEF1_9142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,822 - 68,110,631UniSTSGRCh37
Build 36868,272,376 - 68,273,185RGDNCBI36
Celera864,103,222 - 64,104,031RGD
HuRef863,601,751 - 63,602,560UniSTS
G06218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,933 - 68,110,158UniSTSGRCh37
Build 36868,272,487 - 68,272,712RGDNCBI36
Celera864,103,333 - 64,103,558RGD
Cytogenetic Map8q13UniSTS
HuRef863,601,862 - 63,602,087UniSTS
RH36443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,237,485 - 68,237,702UniSTSGRCh37
Build 36868,400,039 - 68,400,256RGDNCBI36
Celera864,230,894 - 64,231,111RGD
Cytogenetic Map8q13UniSTS
HuRef863,729,642 - 63,729,859UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS
A009B39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,237,554 - 68,237,723UniSTSGRCh37
Build 36868,400,108 - 68,400,277RGDNCBI36
Celera864,230,963 - 64,231,132RGD
Cytogenetic Map8q13UniSTS
HuRef863,729,711 - 63,729,880UniSTS
GeneMap99-GB4 RH Map8358.38UniSTS
NCBI RH Map8833.0UniSTS
WIAF-2084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,125,593 - 68,125,713UniSTSGRCh37
Build 36868,288,147 - 68,288,267RGDNCBI36
Celera864,118,993 - 64,119,113RGD
Cytogenetic Map8q13UniSTS
HuRef863,617,522 - 63,617,642UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS
G32393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,237,554 - 68,237,723UniSTSGRCh37
Celera864,230,963 - 64,231,132UniSTS
Cytogenetic Map8q13UniSTS
HuRef863,729,711 - 63,729,880UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2116
Count of miRNA genes:1050
Interacting mature miRNAs:1254
Transcripts:ENST00000262215, ENST00000517631, ENST00000517955, ENST00000518230, ENST00000518290, ENST00000518789, ENST00000519436, ENST00000520381, ENST00000522878
Prediction methods: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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2125 1554 1254 254 1397 111 3604 984 1502 307 1391 1586 156 998 2104 4
Low 312 1429 471 370 553 353 752 1208 2219 112 67 24 17 1 206 684 1 2
Below cutoff 1 6 1 1 1 3 12 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI523655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI692863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI797683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE048435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA314908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262215   ⟹   ENSP00000262215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,197,658 - 67,343,781 (-)Ensembl
RefSeq Acc Id: ENST00000517955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,198,405 - 67,201,889 (-)Ensembl
RefSeq Acc Id: ENST00000518230   ⟹   ENSP00000430891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,199,929 - 67,238,754 (-)Ensembl
RefSeq Acc Id: ENST00000518290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,197,674 - 67,201,805 (-)Ensembl
RefSeq Acc Id: ENST00000518789   ⟹   ENSP00000429560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,175,487 - 67,211,529 (-)Ensembl
RefSeq Acc Id: ENST00000519436   ⟹   ENSP00000429002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,299,314 - 67,343,677 (-)Ensembl
RefSeq Acc Id: ENST00000520381   ⟹   ENSP00000428429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,173,511 - 67,271,708 (-)Ensembl
RefSeq Acc Id: ENST00000522878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl867,199,011 - 67,207,190 (-)Ensembl
RefSeq Acc Id: NM_006421   ⟹   NP_006412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,658 - 67,343,781 (-)NCBI
GRCh37868,085,746 - 68,255,912 (-)NCBI
Build 36868,272,451 - 68,418,466 (-)NCBI Archive
HuRef863,601,813 - 63,748,371 (-)NCBI
CHM1_1868,165,896 - 68,311,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251134   ⟹   XP_005251191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,673 - 67,343,824 (-)NCBI
GRCh37868,085,746 - 68,255,912 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251135   ⟹   XP_005251192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,197,673 - 67,343,368 (-)NCBI
GRCh37868,085,746 - 68,255,912 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251136   ⟹   XP_005251193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,174,298 - 67,343,368 (-)NCBI
GRCh37868,085,746 - 68,255,912 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006412   ⟸   NM_006421
- UniProtKB: Q9Y6D6 (UniProtKB/Swiss-Prot),   A0A024R7X0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251193   ⟸   XM_005251136
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005251191   ⟸   XM_005251134
- Peptide Label: isoform X1
- UniProtKB: Q9Y6D6 (UniProtKB/Swiss-Prot),   A0A024R7X0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251192   ⟸   XM_005251135
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000429560   ⟸   ENST00000518789
RefSeq Acc Id: ENSP00000430891   ⟸   ENST00000518230
RefSeq Acc Id: ENSP00000429002   ⟸   ENST00000519436
RefSeq Acc Id: ENSP00000428429   ⟸   ENST00000520381
RefSeq Acc Id: ENSP00000262215   ⟸   ENST00000262215
Protein Domains
DCB   DUF1981   SEC7

Promoters
RGD ID:7213459
Promoter ID:EPDNEW_H12475
Type:initiation region
Name:ARFGEF1_2
Description:ADP ribosylation factor 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_H12476  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,343,338 - 67,343,398EPDNEW
RGD ID:7213461
Promoter ID:EPDNEW_H12476
Type:initiation region
Name:ARFGEF1_1
Description:ADP ribosylation factor 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_H12475  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,343,781 - 67,343,841EPDNEW
RGD ID:6806501
Promoter ID:HG_KWN:61445
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006421
Position:
Human AssemblyChrPosition (strand)Source
Build 36868,418,376 - 68,418,876 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn) single nucleotide variant Global developmental delay [RCV001290721] Chr8:67258134 [GRCh38]
Chr8:68170369 [GRCh37]
Chr8:8q13.2
pathogenic
NM_024790.6(CSPP1):c.3206-2A>G single nucleotide variant not provided [RCV000722928] Chr8:67190648 [GRCh38]
Chr8:68102883 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3156+6C>T single nucleotide variant Joubert syndrome 21 [RCV001246867] Chr8:67177732 [GRCh38]
Chr8:68089967 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
NM_024790.6(CSPP1):c.3512G>A (p.Gly1171Glu) single nucleotide variant Malignant melanoma [RCV000068372] Chr8:67195439 [GRCh38]
Chr8:68107674 [GRCh37]
Chr8:68270228 [NCBI36]
Chr8:8q13.2
not provided
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) duplication Joubert syndrome 21 [RCV000087069] Chr8:67190655..67190656 [GRCh38]
Chr8:68102890..68102891 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) single nucleotide variant Joubert syndrome 21 [RCV001332557] Chr8:67190721 [GRCh38]
Chr8:68102956 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter) single nucleotide variant Global developmental delay [RCV001290722] Chr8:67200461 [GRCh38]
Chr8:68112696 [GRCh37]
Chr8:8q13.2
pathogenic
NM_006421.5(ARFGEF1):c.2158del (p.Leu720fs) deletion Global developmental delay [RCV001290724] Chr8:67259892 [GRCh38]
Chr8:68172127 [GRCh37]
Chr8:8q13.2
pathogenic
NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter) single nucleotide variant Global developmental delay [RCV001290730] Chr8:67226067 [GRCh38]
Chr8:68138302 [GRCh37]
Chr8:8q13.2
pathogenic
NM_024790.6(CSPP1):c.3205+1G>A single nucleotide variant Joubert syndrome 21 [RCV000201570] Chr8:67179927 [GRCh38]
Chr8:68092162 [GRCh37]
Chr8:8q13.2
pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3 copy number gain See cases [RCV000141417] Chr8:66968881..67271875 [GRCh38]
Chr8:67881116..68184110 [GRCh37]
Chr8:68043670..68346664 [NCBI36]
Chr8:8q13.1-13.2
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_024790.6(CSPP1):c.3380_3382del (p.Val1127del) deletion Joubert syndrome 21 [RCV001315988]|not provided [RCV000488973] Chr8:67193526..67193528 [GRCh38]
Chr8:68105761..68105763 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3451dup (p.Thr1151fs) duplication not provided [RCV000598647] Chr8:67193598..67193599 [GRCh38]
Chr8:68105833..68105834 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3555_3557dup (p.Ser1186dup) duplication not provided [RCV000723134] Chr8:67195480..67195481 [GRCh38]
Chr8:68107715..68107716 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q13.2(chr8:68041907-68464647)x3 copy number gain See cases [RCV000454319] Chr8:68041907..68464647 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) single nucleotide variant Joubert syndrome 21 [RCV000950923]|not specified [RCV000420814] Chr8:67193538 [GRCh38]
Chr8:68105773 [GRCh37]
Chr8:8q13.2
likely benign
NM_024790.6(CSPP1):c.3205+13A>G single nucleotide variant not specified [RCV000432453] Chr8:67179939 [GRCh38]
Chr8:68092174 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) single nucleotide variant Joubert syndrome 21 [RCV000550141]|not specified [RCV000432483] Chr8:67190742 [GRCh38]
Chr8:68102977 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) single nucleotide variant Joubert syndrome 21 [RCV000535434]|not specified [RCV000439471] Chr8:67177708 [GRCh38]
Chr8:68089943 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3416G>A (p.Arg1139Gln) single nucleotide variant Joubert syndrome 21 [RCV001308223]|not provided [RCV000426272] Chr8:67193564 [GRCh38]
Chr8:68105799 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 copy number loss See cases [RCV000445999] Chr8:65194424..68570319 [GRCh37]
Chr8:8q12.3-13.2
pathogenic
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) single nucleotide variant Joubert syndrome 21 [RCV000560276]|not specified [RCV000440178] Chr8:67195405 [GRCh38]
Chr8:68107640 [GRCh37]
Chr8:8q13.2
benign|likely benign
NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) single nucleotide variant Joubert syndrome 21 [RCV000945690]|not specified [RCV000437529] Chr8:67190714 [GRCh38]
Chr8:68102949 [GRCh37]
Chr8:8q13.2
benign|likely benign
NM_024790.6(CSPP1):c.3095-1G>A single nucleotide variant not provided [RCV000483022] Chr8:67177679 [GRCh38]
Chr8:68089914 [GRCh37]
Chr8:8q13.2
likely pathogenic
NM_024790.6(CSPP1):c.*6A>G single nucleotide variant not specified [RCV000499657] Chr8:67195599 [GRCh38]
Chr8:68107834 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_024790.6(CSPP1):c.3230C>T (p.Ala1077Val) single nucleotide variant not provided [RCV000498042] Chr8:67190674 [GRCh38]
Chr8:68102909 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3150T>C (p.Asp1050=) single nucleotide variant Joubert syndrome 21 [RCV000878340]|not specified [RCV000502767] Chr8:67179871 [GRCh38]
Chr8:68092106 [GRCh37]
Chr8:8q13.2
benign|likely benign
NM_024790.6(CSPP1):c.3632T>A (p.Phe1211Tyr) single nucleotide variant not provided [RCV000493427] Chr8:67195559 [GRCh38]
Chr8:68107794 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_024790.6(CSPP1):c.3094+18C>T single nucleotide variant not specified [RCV000615664] Chr8:67175454 [GRCh38]
Chr8:68087689 [GRCh37]
Chr8:8q13.2
likely benign
NM_024790.6(CSPP1):c.3095-11A>G single nucleotide variant not specified [RCV000612679] Chr8:67177669 [GRCh38]
Chr8:68089904 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) single nucleotide variant Global developmental delay [RCV000735303]|Joubert syndrome 21 [RCV000714686]|not specified [RCV000608030] Chr8:67190725 [GRCh38]
Chr8:68102960 [GRCh37]
Chr8:8q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024790.6(CSPP1):c.3455-20G>T single nucleotide variant not specified [RCV000604720] Chr8:67195362 [GRCh38]
Chr8:68107597 [GRCh37]
Chr8:8q13.2
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_024790.6(CSPP1):c.3206-19C>T single nucleotide variant not specified [RCV000601091] Chr8:67190631 [GRCh38]
Chr8:68102866 [GRCh37]
Chr8:8q13.2
likely benign
GRCh37/hg19 8q13.2(chr8:68038759-68245969)x3 copy number gain not provided [RCV000682943] Chr8:68038759..68245969 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q13.2(chr8:68174995-68230922)x1 copy number loss not provided [RCV000682914] Chr8:68174995..68230922 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3494_3497dup (p.His1166fs) duplication Joubert syndrome 21 [RCV000687761] Chr8:67195419..67195420 [GRCh38]
Chr8:68107654..68107655 [GRCh37]
Chr8:8q13.2
uncertain significance
NC_000008.10:g.(?_68024187)_(68107848_?)dup duplication Joubert syndrome 21 [RCV000708130] Chr8:67111952..67195613 [GRCh38]
Chr8:68024187..68107848 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3440_3445del (p.Lys1147_Pro1148del) deletion not provided [RCV000722367] Chr8:67193586..67193591 [GRCh38]
Chr8:68105821..68105826 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2(chr8:68137315-68161638)x1 copy number loss not provided [RCV000747627] Chr8:68137315..68161638 [GRCh37]
Chr8:8q13.2
benign
GRCh37/hg19 8q13.2(chr8:68158038-68161638)x1 copy number loss not provided [RCV000747628] Chr8:68158038..68161638 [GRCh37]
Chr8:8q13.2
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_024790.6(CSPP1):c.3623C>G (p.Pro1208Arg) single nucleotide variant Joubert syndrome 21 [RCV001044562] Chr8:67195550 [GRCh38]
Chr8:68107785 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3173A>G (p.Asn1058Ser) single nucleotide variant Joubert syndrome 21 [RCV001066592] Chr8:67179894 [GRCh38]
Chr8:68092129 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3563C>T (p.Thr1188Met) single nucleotide variant Joubert syndrome 21 [RCV000946259] Chr8:67195490 [GRCh38]
Chr8:68107725 [GRCh37]
Chr8:8q13.2
likely benign
NM_006421.5(ARFGEF1):c.4968G>A (p.Ala1656=) single nucleotide variant not provided [RCV000967090] Chr8:67203243 [GRCh38]
Chr8:68115478 [GRCh37]
Chr8:8q13.2
benign
NM_006421.5(ARFGEF1):c.4131G>A (p.Val1377=) single nucleotide variant not provided [RCV000967091] Chr8:67224980 [GRCh38]
Chr8:68137215 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3640C>G (p.Gln1214Glu) single nucleotide variant Joubert syndrome 21 [RCV001062425] Chr8:67195567 [GRCh38]
Chr8:68107802 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3260C>T (p.Ser1087Leu) single nucleotide variant Joubert syndrome 21 [RCV001042057] Chr8:67190704 [GRCh38]
Chr8:68102939 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3142C>T (p.Pro1048Ser) single nucleotide variant Joubert syndrome 21 [RCV001068552] Chr8:67179863 [GRCh38]
Chr8:68092098 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3091A>G (p.Lys1031Glu) single nucleotide variant Joubert syndrome 21 [RCV001054269] Chr8:67175433 [GRCh38]
Chr8:68087668 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3660T>C (p.His1220=) single nucleotide variant not provided [RCV000945946] Chr8:67195587 [GRCh38]
Chr8:68107822 [GRCh37]
Chr8:8q13.2
likely benign
NM_006421.5(ARFGEF1):c.330G>A (p.Gly110=) single nucleotide variant not provided [RCV000972592] Chr8:67299338 [GRCh38]
Chr8:68211573 [GRCh37]
Chr8:8q13.2
benign
NM_006421.5(ARFGEF1):c.796G>T (p.Asp266Tyr) single nucleotide variant not provided [RCV000955187] Chr8:67291967 [GRCh38]
Chr8:68204202 [GRCh37]
Chr8:8q13.2
likely benign
NM_024790.6(CSPP1):c.3455-187C>G single nucleotide variant not provided [RCV000832148] Chr8:67195195 [GRCh38]
Chr8:68107430 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3316-37G>A single nucleotide variant not provided [RCV000839323] Chr8:67193427 [GRCh38]
Chr8:68105662 [GRCh37]
Chr8:8q13.2
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3 copy number gain not provided [RCV000848585] Chr8:67780228..68161496 [GRCh37]
Chr8:8q13.1-13.2
uncertain significance
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) single nucleotide variant Joubert syndrome 21 [RCV001206212] Chr8:67175356 [GRCh38]
Chr8:68087591 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) single nucleotide variant Joubert syndrome 21 [RCV001243429] Chr8:67175377 [GRCh38]
Chr8:68087612 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) single nucleotide variant Joubert syndrome 21 [RCV001243477] Chr8:67195515 [GRCh38]
Chr8:68107750 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.2650A>G (p.Met884Val) single nucleotide variant not provided [RCV000850381] Chr8:67253499 [GRCh38]
Chr8:68165734 [GRCh37]
Chr8:8q13.2
uncertain significance
NC_000008.11:g.(?_67111972)_(67218138_?)dup duplication Joubert syndrome 21 [RCV001032443] Chr8:68024207..68130373 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.207A>G (p.Lys69=) single nucleotide variant not provided [RCV000931757] Chr8:67301329 [GRCh38]
Chr8:68213564 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.3389T>G (p.Leu1130Arg) single nucleotide variant Joubert syndrome 21 [RCV000960785] Chr8:67193537 [GRCh38]
Chr8:68105772 [GRCh37]
Chr8:8q13.2
likely benign
NM_001382391.1(CSPP1):c.3331-2A>G single nucleotide variant Joubert syndrome 21 [RCV001231245] Chr8:67193462 [GRCh38]
Chr8:68105697 [GRCh37]
Chr8:8q13.2
likely pathogenic
NM_006421.5(ARFGEF1):c.294A>C (p.Thr98=) single nucleotide variant not provided [RCV000956639] Chr8:67301242 [GRCh38]
Chr8:68213477 [GRCh37]
Chr8:8q13.2
benign
NM_006421.5(ARFGEF1):c.2784C>T (p.Ala928=) single nucleotide variant not provided [RCV000956637] Chr8:67251365 [GRCh38]
Chr8:68163600 [GRCh37]
Chr8:8q13.2
benign
NM_006421.5(ARFGEF1):c.1572+4C>T single nucleotide variant not provided [RCV000956638] Chr8:67271698 [GRCh38]
Chr8:68183933 [GRCh37]
Chr8:8q13.2
benign
NM_006421.5(ARFGEF1):c.4365C>T (p.Cys1455=) single nucleotide variant not provided [RCV000935026] Chr8:67218112 [GRCh38]
Chr8:68130347 [GRCh37]
Chr8:8q13.2
benign
NM_024790.6(CSPP1):c.2972A>C (p.Asp991Ala) single nucleotide variant Joubert syndrome 21 [RCV001046893] Chr8:67175314 [GRCh38]
Chr8:68087549 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3437A>G (p.Asn1146Ser) single nucleotide variant Joubert syndrome 21 [RCV001059985] Chr8:67193585 [GRCh38]
Chr8:68105820 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.2996C>T (p.Pro999Leu) single nucleotide variant Joubert syndrome 21 [RCV001060348] Chr8:67175338 [GRCh38]
Chr8:68087573 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) single nucleotide variant Joubert syndrome 21 [RCV001208673] Chr8:67175308 [GRCh38]
Chr8:68087543 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_024790.6(CSPP1):c.3094G>A (p.Val1032Ile) single nucleotide variant Joubert syndrome 21 [RCV001034776] Chr8:67175436 [GRCh38]
Chr8:68087671 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3 copy number gain not provided [RCV001258413] Chr8:67744375..68387850 [GRCh37]
Chr8:8q13.1-13.2
uncertain significance
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) single nucleotide variant Joubert syndrome 21 [RCV001262917] Chr8:67193474 [GRCh38]
Chr8:68105709 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.3592-2A>G single nucleotide variant Global developmental delay [RCV001290723] Chr8:67227600 [GRCh38]
Chr8:68139835 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) single nucleotide variant Joubert syndrome 21 [RCV001301361] Chr8:67195565 [GRCh38]
Chr8:68107800 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) single nucleotide variant Joubert syndrome 21 [RCV001305709] Chr8:67193494 [GRCh38]
Chr8:68105729 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.2524C>T (p.Gln842Ter) single nucleotide variant Seizures [RCV001290121] Chr8:67257734 [GRCh38]
Chr8:68169969 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) single nucleotide variant Joubert syndrome 21 [RCV001340212] Chr8:67175367 [GRCh38]
Chr8:68087602 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.2923_2924dup (p.Cys976fs) microsatellite Global developmental delay [RCV001290725] Chr8:67240216..67240217 [GRCh38]
Chr8:68152451..68152452 [GRCh37]
Chr8:8q13.2
pathogenic
NM_006421.5(ARFGEF1):c.1006del (p.Met336fs) deletion Global developmental delay [RCV001290727] Chr8:67287976 [GRCh38]
Chr8:68200211 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) single nucleotide variant Joubert syndrome 21 [RCV001325759] Chr8:67195432 [GRCh38]
Chr8:68107667 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) duplication Joubert syndrome 21 [RCV001324825] Chr8:67195592..67195593 [GRCh38]
Chr8:68107827..68107828 [GRCh37]
Chr8:8q13.2
uncertain significance
NC_000008.10:g.(?_68024207)_(68130373_?)dup duplication Joubert syndrome 21 [RCV001305615] Chr8:68024207..68130373 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.2395C>T (p.Arg799Ter) single nucleotide variant Global developmental delay [RCV001290726] Chr8:67258131 [GRCh38]
Chr8:68170366 [GRCh37]
Chr8:8q13.2
pathogenic
NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter) single nucleotide variant Global developmental delay [RCV001290729] Chr8:67227493 [GRCh38]
Chr8:68139728 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) single nucleotide variant Joubert syndrome 21 [RCV001392648] Chr8:67195491 [GRCh38]
Chr8:68107726 [GRCh37]
Chr8:8q13.2
likely benign
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) duplication Joubert syndrome 21 [RCV001323878] Chr8:67195383..67195384 [GRCh38]
Chr8:68107618..68107619 [GRCh37]
Chr8:8q13.2
uncertain significance
NC_000008.10:g.68107615_68107616insGAT microsatellite Joubert syndrome 21 [RCV001362942] Chr8:67195380..67195381 [GRCh38]
Chr8:68107615..68107616 [GRCh37]
Chr8:8q13.2
uncertain significance
NC_000008.10:g.(?_67786376)_(68165857_?)dup duplication Joubert syndrome 21 [RCV001346674] Chr8:67786376..68165857 [GRCh37]
Chr8:8q13.1-13.2
uncertain significance
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) single nucleotide variant Joubert syndrome 21 [RCV001361294] Chr8:67193488 [GRCh38]
Chr8:68105723 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) single nucleotide variant Joubert syndrome 21 [RCV001346130] Chr8:67195499 [GRCh38]
Chr8:68107734 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter) single nucleotide variant Global developmental delay [RCV001290728] Chr8:67266187 [GRCh38]
Chr8:68178422 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) single nucleotide variant Joubert syndrome 21 [RCV001351278] Chr8:67195408 [GRCh38]
Chr8:68107643 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) duplication Joubert syndrome 21 [RCV001343033] Chr8:67195444..67195445 [GRCh38]
Chr8:68107679..68107680 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) single nucleotide variant Joubert syndrome 21 [RCV001363778] Chr8:67175367 [GRCh38]
Chr8:68087602 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) single nucleotide variant Joubert syndrome 21 [RCV001350382] Chr8:67195441 [GRCh38]
Chr8:68107676 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) single nucleotide variant Joubert syndrome 21 [RCV001371159] Chr8:67195525 [GRCh38]
Chr8:68107760 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.3109+5G>C single nucleotide variant Joubert syndrome 21 [RCV001365710] Chr8:67175441 [GRCh38]
Chr8:68087676 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) single nucleotide variant Joubert syndrome 21 [RCV001380746] Chr8:67175307 [GRCh38]
Chr8:68087542 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3156+16C>A single nucleotide variant Joubert syndrome 21 [RCV001436807] Chr8:67177742 [GRCh38]
Chr8:68089977 [GRCh37]
Chr8:8q13.2
likely benign
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) microsatellite Joubert syndrome 21 [RCV001385755] Chr8:67193537..67193538 [GRCh38]
Chr8:68105772..68105773 [GRCh37]
Chr8:8q13.2
pathogenic
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) single nucleotide variant Joubert syndrome 21 [RCV001441974] Chr8:67195573 [GRCh38]
Chr8:68107808 [GRCh37]
Chr8:8q13.2
likely benign
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) single nucleotide variant Joubert syndrome 21 [RCV001434970] Chr8:67190687 [GRCh38]
Chr8:68102922 [GRCh37]
Chr8:8q13.2
likely benign
NM_001382391.1(CSPP1):c.3331-10C>T single nucleotide variant Joubert syndrome 21 [RCV001418830] Chr8:67193454 [GRCh38]
Chr8:68105689 [GRCh37]
Chr8:8q13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15772 AgrOrtholog
COSMIC ARFGEF1 COSMIC
Ensembl Genes ENSG00000066777 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428429 UniProtKB/TrEMBL
  ENSP00000429002 UniProtKB/TrEMBL
  ENSP00000429560 UniProtKB/TrEMBL
  ENSP00000430891 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518230 UniProtKB/TrEMBL
  ENST00000518789 UniProtKB/TrEMBL
  ENST00000519436 UniProtKB/TrEMBL
  ENST00000520381 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1000.11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000066777 GTEx
HGNC ID HGNC:15772 ENTREZGENE
Human Proteome Map ARFGEF1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DCB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10565 ENTREZGENE
OMIM 604141 OMIM
Pfam DCB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1981 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134908197 PharmGKB
PROSITE SEC7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Sec7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48425 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7X0 ENTREZGENE, UniProtKB/TrEMBL
  BIG1_HUMAN UniProtKB/Swiss-Prot
  E5RHL7_HUMAN UniProtKB/TrEMBL
  E5RHZ1_HUMAN UniProtKB/TrEMBL
  E5RIF2_HUMAN UniProtKB/TrEMBL
  E5RJN9_HUMAN UniProtKB/TrEMBL
  Q9Y6D6 ENTREZGENE
UniProt Secondary Q9NV46 UniProtKB/Swiss-Prot
  Q9UFV2 UniProtKB/Swiss-Prot
  Q9UNL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ARFGEF1  ADP ribosylation factor guanine nucleotide exchange factor 1  ARFGEF1  ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)  Symbol and/or name change 5135510 APPROVED
2011-08-23 ARFGEF1  ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)  ARFGEF1  ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)  Symbol and/or name change 5135510 APPROVED