AARD (alanine and arginine rich domain containing protein) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AARD (alanine and arginine rich domain containing protein) Homo sapiens
Analyze
Symbol: AARD
Name: alanine and arginine rich domain containing protein
RGD ID: 2311262
HGNC Page HGNC
Description: Predicted to be involved in lung development; INTERACTS WITH benzo[a]pyrene; bisphenol A; calcitriol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: alanine and arginine-rich domain-containing protein; C8orf85
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Pig
Green Monkey
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 Ensembl8116,938,207 - 116,944,487 (+)EnsemblGRCh38hg38GRCh38
GRCh388116,938,207 - 116,944,487 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378117,950,446 - 117,956,726 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,019,664 - 118,024,403 (+)NCBINCBI36hg18NCBI36
Celera8114,139,154 - 114,144,929 (+)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8113,276,873 - 113,282,648 (+)NCBIHuRef
CHM1_18117,990,693 - 117,996,449 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
lung development  (IEA,ISO)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:20549515   PMID:27959439   PMID:32296183  


Genomics

Comparative Map Data
AARD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8116,938,207 - 116,944,487 (+)EnsemblGRCh38hg38GRCh38
GRCh388116,938,207 - 116,944,487 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378117,950,446 - 117,956,726 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,019,664 - 118,024,403 (+)NCBINCBI36hg18NCBI36
Celera8114,139,154 - 114,144,929 (+)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8113,276,873 - 113,282,648 (+)NCBIHuRef
CHM1_18117,990,693 - 117,996,449 (+)NCBICHM1_1
Aard
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391551,903,503 - 51,909,118 (+)NCBIGRCm39mm39
GRCm39 Ensembl1551,903,503 - 51,909,118 (+)Ensembl
GRCm381552,040,107 - 52,045,722 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1552,040,107 - 52,045,722 (+)EnsemblGRCm38mm10GRCm38
MGSCv371551,871,653 - 51,877,269 (+)NCBIGRCm37mm9NCBIm37
MGSCv361551,870,181 - 51,875,795 (+)NCBImm8
Celera1553,613,350 - 53,618,906 (+)NCBICelera
Cytogenetic Map15CNCBI
Aard
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2783,364,478 - 83,369,319 (+)NCBI
Rnor_6.0 Ensembl791,588,458 - 91,593,297 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0791,588,458 - 91,593,299 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0792,232,534 - 92,237,375 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4788,346,189 - 88,351,030 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1788,366,918 - 88,371,758 (+)NCBI
Celera780,241,346 - 80,246,187 (+)NCBICelera
Cytogenetic Map7q31NCBI
AARD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18116,155,559 - 116,160,040 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08113,610,223 - 113,619,903 (+)NCBIMhudiblu_PPA_v0panPan3
Aard
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530321,786,039 - 21,952,526 (-)NCBI
SpeTri2.0NW_00493647029,320,937 - 29,325,193 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AARD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl421,715,819 - 21,720,764 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1421,715,688 - 21,720,760 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2422,984,620 - 22,989,689 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AARD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18111,574,689 - 111,580,903 (+)NCBI
ChlSab1.1 Ensembl8111,575,266 - 111,580,871 (+)Ensembl

Position Markers
A009J48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,950,114 - 117,950,220UniSTSGRCh37
Build 368118,019,295 - 118,019,401RGDNCBI36
Celera8114,138,804 - 114,138,910RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,276,523 - 113,276,629UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
G32598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378117,950,114 - 117,950,220UniSTSGRCh37
Celera8114,138,804 - 114,138,910UniSTS
Cytogenetic Map8q24.11UniSTS
HuRef8113,276,523 - 113,276,629UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1088
Count of miRNA genes:604
Interacting mature miRNAs:657
Transcripts:ENST00000378279, ENST00000523536
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.


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 799 4 3 13 2 24 561 3 14 444 33 1 4 12
Low 1045 41 283 159 357 9 1476 353 1489 184 391 658 150 307 707 3 2
Below cutoff 549 2005 991 151 1040 146 2251 972 2139 177 560 798 17 1 740 1596 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000378279   ⟹   ENSP00000367528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,938,207 - 116,944,487 (+)Ensembl
RefSeq Acc Id: ENST00000523536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8116,938,546 - 116,942,922 (+)Ensembl
RefSeq Acc Id: NM_001025357   ⟹   NP_001020528
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,938,207 - 116,944,487 (+)NCBI
GRCh378117,950,464 - 117,956,239 (+)RGD
Build 368118,019,664 - 118,024,403 (+)NCBI Archive
Celera8114,139,154 - 114,144,929 (+)RGD
HuRef8113,276,873 - 113,282,648 (+)RGD
CHM1_18117,990,693 - 117,996,449 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001020528 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI40925 (Get FASTA)   NCBI Sequence Viewer  
  AAI42622 (Get FASTA)   NCBI Sequence Viewer  
  BAE03184 (Get FASTA)   NCBI Sequence Viewer  
  Q4LEZ3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001020528   ⟸   NM_001025357
- UniProtKB: Q4LEZ3 (UniProtKB/Swiss-Prot),   B2RU19 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000367528   ⟸   ENST00000378279

Promoters
RGD ID:7214033
Promoter ID:EPDNEW_H12762
Type:initiation region
Name:AARD_1
Description:alanine and arginine rich domain containing protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12761  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388116,938,219 - 116,938,279EPDNEW
RGD ID:6806554
Promoter ID:HG_KWN:61959
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001025357
Position:
Human AssemblyChrPosition (strand)Source
Build 368118,019,601 - 118,020,101 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
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 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
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 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 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
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 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
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 8q23.3-24.11(chr8:116497730-117379167)x1 copy number loss See cases [RCV000142553] Chr8:116497730..117379167 [GRCh38]
Chr8:117509968..118391406 [GRCh37]
Chr8:117579149..118460587 [NCBI36]
Chr8:8q23.3-24.11
uncertain significance
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 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 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
GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1 copy number loss See cases [RCV000240065] Chr8:117714768..119072307 [GRCh37]
Chr8:8q24.11
pathogenic
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 8q23.3-24.11(chr8:116902507-118942698)x1 copy number loss See cases [RCV000448534] Chr8:116902507..118942698 [GRCh37]
Chr8:8q23.3-24.11
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
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1 copy number loss See cases [RCV000512409] Chr8:111137305..119897611 [GRCh37]
Chr8:8q23.2-24.12
pathogenic
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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
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
NM_001025357.3(AARD):c.210G>A (p.Ala70=) single nucleotide variant not provided [RCV000947127] Chr8:116938453 [GRCh38]
Chr8:117950692 [GRCh37]
Chr8:8q24.11
benign
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
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
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33842 AgrOrtholog
COSMIC AARD COSMIC
Ensembl Genes ENSG00000205002 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000367528 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378279 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000205002 GTEx
HGNC ID HGNC:33842 ENTREZGENE
Human Proteome Map AARD Human Proteome Map
KEGG Report hsa:441376 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 441376 ENTREZGENE
PharmGKB PA164717502 PharmGKB
UniProt AARD_HUMAN UniProtKB/Swiss-Prot
  B2RU19 ENTREZGENE, UniProtKB/TrEMBL
  Q4LEZ3 ENTREZGENE
UniProt Secondary A5PKU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-04-24 AARD  alanine and arginine rich domain containing protein  C8orf85  chromosome 8 open reading frame 85  Symbol and/or name change 5135510 APPROVED