ABRA (actin binding Rho activating protein) - Rat Genome Database

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Gene: ABRA (actin binding Rho activating protein) Homo sapiens
Analyze
Symbol: ABRA
Name: actin binding Rho activating protein
RGD ID: 1603582
HGNC Page HGNC
Description: Predicted to have actin binding activity. Predicted to be involved in positive regulation of DNA-binding transcription factor activity; positive regulation of Rho protein signal transduction; and positive regulation of transcription by RNA polymerase II. Localizes to plasma membrane; INTERACTS WITH benzo[a]pyrene; doxorubicin; etoposide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: actin-binding Rho-activating protein; STARS; striated muscle activator of Rho-dependent signaling
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 Ensembl8106,759,483 - 106,770,244 (-)EnsemblGRCh38hg38GRCh38
GRCh388106,759,483 - 106,809,073 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378107,771,711 - 107,782,472 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368107,842,321 - 107,851,649 (-)NCBINCBI36hg18NCBI36
Celera8103,958,692 - 103,969,453 (-)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8103,092,762 - 103,103,523 (-)NCBIHuRef
CHM1_18107,812,158 - 107,822,919 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:11983702   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15489336   PMID:15798203   PMID:16381901   PMID:17194709   PMID:17415416  
PMID:19255118   PMID:21486805   PMID:21873635   PMID:23259602   PMID:23414517   PMID:23753523   PMID:27132186   PMID:27739650   PMID:29504288   PMID:32296183  


Genomics

Comparative Map Data
ABRA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8106,759,483 - 106,770,244 (-)EnsemblGRCh38hg38GRCh38
GRCh388106,759,483 - 106,809,073 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378107,771,711 - 107,782,472 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368107,842,321 - 107,851,649 (-)NCBINCBI36hg18NCBI36
Celera8103,958,692 - 103,969,453 (-)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8103,092,762 - 103,103,523 (-)NCBIHuRef
CHM1_18107,812,158 - 107,822,919 (-)NCBICHM1_1
Abra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391541,728,689 - 41,733,116 (-)NCBIGRCm39mm39
GRCm39 Ensembl1541,727,472 - 41,733,116 (-)Ensembl
GRCm381541,865,293 - 41,869,720 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1541,864,076 - 41,869,720 (-)EnsemblGRCm38mm10GRCm38
MGSCv371541,696,839 - 41,701,266 (-)NCBIGRCm37mm9NCBIm37
MGSCv361541,695,367 - 41,699,794 (-)NCBImm8
Celera1542,363,406 - 42,367,822 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
Abra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2772,970,187 - 72,974,255 (-)NCBI
Rnor_6.0 Ensembl780,792,600 - 80,796,670 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0780,792,615 - 80,796,683 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0780,816,575 - 80,820,643 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4777,506,885 - 77,510,953 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1777,527,614 - 77,531,683 (-)NCBI
Celera769,986,321 - 69,990,389 (-)NCBICelera
Cytogenetic Map7q31NCBI
Abra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541729,875,928 - 29,883,584 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541729,874,234 - 29,883,648 (-)NCBIChiLan1.0ChiLan1.0
ABRA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18105,546,026 - 105,556,777 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8105,546,026 - 105,556,777 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08103,399,433 - 103,410,184 (-)NCBIMhudiblu_PPA_v0panPan3
ABRA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1137,589,840 - 7,599,573 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl137,589,665 - 7,599,529 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha137,595,649 - 7,605,524 (-)NCBI
ROS_Cfam_1.0137,850,252 - 7,860,117 (-)NCBI
UMICH_Zoey_3.1137,604,638 - 7,614,480 (-)NCBI
UNSW_CanFamBas_1.0137,725,256 - 7,735,119 (-)NCBI
UU_Cfam_GSD_1.0137,801,727 - 7,811,618 (-)NCBI
Abra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530330,293,845 - 30,300,974 (+)NCBI
SpeTri2.0NW_00493647037,719,469 - 37,727,066 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABRA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl430,712,238 - 30,721,193 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1430,712,238 - 30,719,495 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2433,354,419 - 33,361,711 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABRA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18101,541,780 - 101,552,423 (-)NCBI
ChlSab1.1 Ensembl8101,538,492 - 101,551,440 (-)Ensembl
Abra
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476322,346,911 - 22,353,213 (-)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:451
Count of miRNA genes:357
Interacting mature miRNAs:385
Transcripts:ENST00000311955
Prediction methods:Miranda, 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 3 599 2 7 1 840 987 4 24 5 9 4 840
Low 448 1388 171 48 48 5 829 509 330 19 552 271 43 1 245 729 1 2
Below cutoff 1755 740 1112 281 1165 180 2176 630 2685 214 590 989 104 878 1115

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000311955   ⟹   ENSP00000311436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,759,483 - 106,770,244 (-)Ensembl
RefSeq Acc Id: NM_139166   ⟹   NP_631905
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,759,483 - 106,770,244 (-)NCBI
GRCh378107,771,711 - 107,782,472 (-)RGD
Build 368107,842,321 - 107,851,649 (-)NCBI Archive
Celera8103,958,692 - 103,969,453 (-)RGD
HuRef8103,092,762 - 103,103,523 (-)RGD
CHM1_18107,812,158 - 107,822,919 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447063   ⟹   XP_024302831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,759,483 - 106,809,073 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_631905   ⟸   NM_139166
- UniProtKB: Q8N0Z2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302831   ⟸   XM_024447063
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000311436   ⟸   ENST00000311955

Promoters
RGD ID:7213975
Promoter ID:EPDNEW_H12733
Type:multiple initiation site
Name:ABRA_1
Description:actin binding Rho activating protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12734  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,770,242 - 106,770,302EPDNEW
RGD ID:7213977
Promoter ID:EPDNEW_H12734
Type:initiation region
Name:ABRA_2
Description:actin binding Rho activating protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12733  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,809,055 - 106,809,115EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1 copy number loss See cases [RCV000051020] Chr8:105053530..107803535 [GRCh38]
Chr8:106065758..108815763 [GRCh37]
Chr8:106134934..108884939 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
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 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 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
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 8q23.1(chr8:106761128-106784262)x1 copy number loss See cases [RCV000141278] Chr8:106761128..106784262 [GRCh38]
Chr8:107773356..107796490 [GRCh37]
Chr8:107842532..107865666 [NCBI36]
Chr8:8q23.1
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
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
GRCh38/hg38 8q23.1(chr8:106784262-107356237)x3 copy number gain See cases [RCV000050784] Chr8:106784262..107356237 [GRCh38]
Chr8:107796490..108368465 [GRCh37]
Chr8:107865666..108437641 [NCBI36]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q23.1(chr8:106801494-107326594)x3 copy number gain See cases [RCV000139123] Chr8:106801494..107326594 [GRCh38]
Chr8:107813722..108338822 [GRCh37]
Chr8:107882898..108407998 [NCBI36]
Chr8:8q23.1
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
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
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
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q23.1(chr8:106805128-107380054)x3 copy number gain See cases [RCV000142346] Chr8:106805128..107380054 [GRCh38]
Chr8:107817356..108392282 [GRCh37]
Chr8:107886532..108461458 [NCBI36]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q23.1(chr8:106784262-107380780)x3 copy number gain See cases [RCV000138560] Chr8:106784262..107380780 [GRCh38]
Chr8:107796490..108393008 [GRCh37]
Chr8:107865666..108462184 [NCBI36]
Chr8:8q23.1
likely benign|uncertain significance
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
GRCh37/hg19 8q23.1(chr8:107509850-107773415)x0 copy number loss not provided [RCV000585120] Chr8:107509850..107773415 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
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 8q23.1(chr8:107779580-107819358)x3 copy number gain not provided [RCV000747761] Chr8:107779580..107819358 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30655 AgrOrtholog
COSMIC ABRA COSMIC
Ensembl Genes ENSG00000174429 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000311436 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311955 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.1540 UniProtKB/Swiss-Prot
GTEx ENSG00000174429 GTEx
HGNC ID HGNC:30655 ENTREZGENE
Human Proteome Map ABRA Human Proteome Map
InterPro Abra UniProtKB/Swiss-Prot
  Costars_dom UniProtKB/Swiss-Prot
  Costars_sf UniProtKB/Swiss-Prot
KEGG Report hsa:137735 UniProtKB/Swiss-Prot
NCBI Gene 137735 ENTREZGENE
OMIM 609747 OMIM
PANTHER PTHR22739 UniProtKB/Swiss-Prot
Pfam Costars UniProtKB/Swiss-Prot
PharmGKB PA143485290 PharmGKB
SMART Costars UniProtKB/Swiss-Prot
UniProt ABRA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-05-05 ABRA  actin binding Rho activating protein    actin-binding Rho activating protein  Symbol and/or name change 5135510 APPROVED