APBA1 (amyloid beta precursor protein binding family A member 1) - Rat Genome Database

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Gene: APBA1 (amyloid beta precursor protein binding family A member 1) Homo sapiens
Analyze
Symbol: APBA1
Name: amyloid beta precursor protein binding family A member 1
RGD ID: 732461
HGNC Page HGNC
Description: Predicted to have amyloid-beta binding activity. Predicted to be involved in chemical synaptic transmission. Localizes to Golgi apparatus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adapter protein X11alpha; adaptor protein X11alpha; amyloid beta (A4) precursor protein-binding, family A, member 1 (X11); amyloid beta A4 precursor protein-binding family A member 1; amyloid-beta A4 precursor protein-binding family A member 1; D9S411E; LIN10; mint-1; MINT1; neuron-specific X11 protein; neuronal munc18-1-interacting protein 1; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; X11; X11A; X11ALPHA
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 Ensembl969,427,532 - 69,672,371 (-)EnsemblGRCh38hg38GRCh38
GRCh38969,427,532 - 69,673,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37972,042,448 - 72,287,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36971,235,022 - 71,477,042 (-)NCBINCBI36hg18NCBI36
Build 34969,274,755 - 69,516,776NCBI
Celera942,632,969 - 42,877,657 (-)NCBI
Cytogenetic Map9q21.12NCBI
HuRef941,881,637 - 42,126,250 (-)NCBIHuRef
CHM1_1972,188,922 - 72,433,742 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:1968060   PMID:7545337   PMID:7678331   PMID:7719031   PMID:8887653   PMID:9321393   PMID:9395480   PMID:9585438   PMID:9614075   PMID:9753324   PMID:9822620   PMID:9952408  
PMID:10455105   PMID:11010978   PMID:11036064   PMID:11083918   PMID:11115513   PMID:12006486   PMID:12016213   PMID:12093160   PMID:12177192   PMID:12196555   PMID:12514209   PMID:12842896  
PMID:12849748   PMID:12970358   PMID:14756819   PMID:14960569   PMID:14970211   PMID:15024025   PMID:15164053   PMID:15563604   PMID:15699037   PMID:16007100   PMID:16344560   PMID:16413130  
PMID:16458391   PMID:17428983   PMID:18836734   PMID:19720620   PMID:20016085   PMID:20160714   PMID:20379614   PMID:20468060   PMID:20531236   PMID:21178287   PMID:21763699   PMID:21873635  
PMID:22355143   PMID:23737971   PMID:24742670   PMID:26186194   PMID:26865271   PMID:26972000   PMID:28514442   PMID:31413325  


Genomics

Comparative Map Data
APBA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl969,427,532 - 69,672,371 (-)EnsemblGRCh38hg38GRCh38
GRCh38969,427,532 - 69,673,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37972,042,448 - 72,287,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36971,235,022 - 71,477,042 (-)NCBINCBI36hg18NCBI36
Build 34969,274,755 - 69,516,776NCBI
Celera942,632,969 - 42,877,657 (-)NCBI
Cytogenetic Map9q21.12NCBI
HuRef941,881,637 - 42,126,250 (-)NCBIHuRef
CHM1_1972,188,922 - 72,433,742 (-)NCBICHM1_1
Apba1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391923,736,170 - 23,926,961 (+)NCBIGRCm39mm39
GRCm39 Ensembl1923,736,251 - 23,926,960 (+)Ensembl
GRCm381923,758,806 - 23,949,598 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1923,758,887 - 23,949,596 (+)EnsemblGRCm38mm10GRCm38
MGSCv371923,833,366 - 24,024,087 (+)NCBIGRCm37mm9NCBIm37
MGSCv361923,825,973 - 24,016,694 (+)NCBImm8
Celera1924,515,896 - 24,708,645 (+)NCBICelera
Cytogenetic Map19BNCBI
Apba1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21221,363,769 - 221,569,496 (+)NCBI
Rnor_6.0 Ensembl1241,594,565 - 241,796,513 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01241,594,565 - 241,796,512 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01248,875,910 - 249,079,588 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,106,828 - 227,309,416 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11227,270,850 - 227,473,431 (+)NCBI
Celera1218,575,430 - 218,778,639 (+)NCBICelera
Cytogenetic Map1q51NCBI
Apba1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554343,519,314 - 3,588,829 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554343,384,978 - 3,588,771 (+)NCBIChiLan1.0ChiLan1.0
APBA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1968,191,877 - 68,435,013 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl968,191,877 - 68,275,554 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0955,124,040 - 55,365,521 (+)NCBIMhudiblu_PPA_v0panPan3
APBA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1187,787,039 - 87,980,204 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl187,786,836 - 87,980,194 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha188,255,280 - 88,452,053 (+)NCBI
ROS_Cfam_1.0188,335,484 - 88,532,249 (+)NCBI
UMICH_Zoey_3.1187,990,598 - 88,187,087 (+)NCBI
UNSW_CanFamBas_1.0187,697,128 - 87,893,940 (+)NCBI
UU_Cfam_GSD_1.0188,460,793 - 88,657,815 (+)NCBI
Apba1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947135,402,119 - 135,473,424 (+)NCBI
SpeTri2.0NW_0049365035,699,580 - 5,770,920 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APBA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,758,508 - 222,990,335 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,758,508 - 222,990,000 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21249,028,220 - 249,062,572 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APBA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11280,506,807 - 80,733,095 (-)NCBI
ChlSab1.1 Ensembl1280,506,776 - 80,577,500 (-)Ensembl
Apba1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247363,404,915 - 3,637,346 (+)NCBI

Position Markers
D9S2022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,262,896 - 72,263,030UniSTSGRCh37
Build 36971,452,716 - 71,452,850RGDNCBI36
Celera942,853,269 - 42,853,403RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef942,101,940 - 42,102,074UniSTS
RH93021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,042,538 - 72,042,659UniSTSGRCh37
Build 36971,232,358 - 71,232,479RGDNCBI36
Celera942,633,058 - 42,633,179RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,881,726 - 41,881,847UniSTS
GeneMap99-GB4 RH Map9238.02UniSTS
SHGC-83193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,161,107 - 72,161,393UniSTSGRCh37
Build 36971,350,927 - 71,351,213RGDNCBI36
Celera942,751,475 - 42,751,761RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef942,000,240 - 42,000,526UniSTS
TNG Radiation Hybrid Map923003.0UniSTS
D9S411E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,045,384 - 72,045,543UniSTSGRCh37
Build 36971,235,204 - 71,235,363RGDNCBI36
Celera942,635,904 - 42,636,063RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,884,572 - 41,884,731UniSTS
Whitehead-YAC Contig Map9 UniSTS
D9S327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,276,897 - 72,277,016UniSTSGRCh37
Build 36971,466,717 - 71,466,836RGDNCBI36
Celera942,867,279 - 42,867,398RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef942,115,950 - 42,116,069UniSTS
D9S1754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,101,824 - 72,101,913UniSTSGRCh37
Build 36971,291,644 - 71,291,733RGDNCBI36
Celera942,692,213 - 42,692,302RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,941,006 - 41,941,095UniSTS
SHGC-141873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,060,284 - 72,060,613UniSTSGRCh37
Build 36971,250,104 - 71,250,433RGDNCBI36
Celera942,650,663 - 42,650,992RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,899,472 - 41,899,801UniSTS
TNG Radiation Hybrid Map922954.0UniSTS
SHGC-148287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,057,700 - 72,058,002UniSTSGRCh37
Build 36971,247,520 - 71,247,822RGDNCBI36
Celera942,648,079 - 42,648,381RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,896,888 - 41,897,190UniSTS
TNG Radiation Hybrid Map922934.0UniSTS
WI-17743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,043,361 - 72,043,510UniSTSGRCh37
Build 36971,233,181 - 71,233,330RGDNCBI36
Celera942,633,881 - 42,634,030RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,882,549 - 41,882,698UniSTS
GeneMap99-GB4 RH Map9219.28UniSTS
Whitehead-RH Map9252.7UniSTS
NCBI RH Map9653.8UniSTS
AB047613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,064,995 - 72,065,144UniSTSGRCh37
Build 36971,254,815 - 71,254,964RGDNCBI36
Celera942,655,374 - 42,655,523RGD
HuRef941,904,182 - 41,904,331UniSTS
RH48024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,248,118 - 72,248,260UniSTSGRCh37
Build 36971,437,938 - 71,438,080RGDNCBI36
Celera942,838,483 - 42,838,625RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef942,087,153 - 42,087,295UniSTS
GeneMap99-GB4 RH Map9238.02UniSTS
D9S1154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,199,753 - 72,199,984UniSTSGRCh37
Build 36971,389,573 - 71,389,804RGDNCBI36
Celera942,790,118 - 42,790,349RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef942,038,881 - 42,039,112UniSTS
Whitehead-RH Map9265.5UniSTS
Whitehead-YAC Contig Map9 UniSTS
RH17597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,045,388 - 72,045,619UniSTSGRCh37
Build 36971,235,208 - 71,235,439RGDNCBI36
Celera942,635,908 - 42,636,139RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,884,576 - 41,884,807UniSTS
GeneMap99-GB4 RH Map9238.02UniSTS
G15857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,045,387 - 72,045,586UniSTSGRCh37
Build 36971,235,207 - 71,235,406RGDNCBI36
Celera942,635,907 - 42,636,106RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef941,884,575 - 41,884,774UniSTS
WI-16198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,283,080 - 72,283,204UniSTSGRCh37
Build 36971,472,900 - 71,473,024RGDNCBI36
Celera942,873,462 - 42,873,586RGD
Cytogenetic Map9q13-q21.1UniSTS
HuRef942,122,133 - 42,122,257UniSTS
GeneMap99-GB4 RH Map9220.77UniSTS
Whitehead-RH Map9252.8UniSTS
NCBI RH Map9653.8UniSTS
APBA1__4338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,045,042 - 72,045,828UniSTSGRCh37
Build 36971,234,862 - 71,235,648RGDNCBI36
Celera942,635,562 - 42,636,348RGD
HuRef941,884,230 - 41,885,016UniSTS
D9S411E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q13-q21.1UniSTS
D9S411E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q13-q21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1723
Count of miRNA genes:833
Interacting mature miRNAs:998
Transcripts:ENST00000265381, ENST00000470082
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 2 13 194 58 14 58 254 2629 15 77 33 3 245
Low 2359 2149 1443 539 572 381 3874 1951 1087 362 1330 1492 171 1 1200 2396 4
Below cutoff 66 790 81 21 840 21 226 237 14 39 41 70 3 1 147 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC208386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF435835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ269294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA179202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA313538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z32676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265381   ⟹   ENSP00000265381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl969,427,532 - 69,672,371 (-)Ensembl
RefSeq Acc Id: ENST00000470082   ⟹   ENSP00000486435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl969,456,279 - 69,467,948 (-)Ensembl
RefSeq Acc Id: ENST00000628769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl969,460,673 - 69,465,522 (-)Ensembl
RefSeq Acc Id: NM_001163   ⟹   NP_001154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,427,532 - 69,672,371 (-)NCBI
GRCh37972,042,448 - 72,287,275 (-)NCBI
Build 36971,235,022 - 71,477,042 (-)NCBI Archive
HuRef941,881,637 - 42,126,250 (-)ENTREZGENE
CHM1_1972,188,922 - 72,433,742 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251968   ⟹   XP_005252025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,427,532 - 69,672,390 (-)NCBI
GRCh37972,042,448 - 72,287,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518617   ⟹   XP_011516919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,427,532 - 69,673,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014670   ⟹   XP_016870159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,427,532 - 69,571,430 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001154   ⟸   NM_001163
- UniProtKB: Q02410 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252025   ⟸   XM_005251968
- Peptide Label: isoform X2
- UniProtKB: Q02410 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516919   ⟸   XM_011518617
- Peptide Label: isoform X1
- UniProtKB: Q02410 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870159   ⟸   XM_017014670
- Peptide Label: isoform X1
- UniProtKB: Q02410 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000486435   ⟸   ENST00000470082
RefSeq Acc Id: ENSP00000265381   ⟸   ENST00000265381
Protein Domains
PDZ   PID

Promoters
RGD ID:7215215
Promoter ID:EPDNEW_H13354
Type:single initiation site
Name:APBA1_2
Description:amyloid beta precursor protein binding family A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13355  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,607,117 - 69,607,177EPDNEW
RGD ID:7215217
Promoter ID:EPDNEW_H13355
Type:initiation region
Name:APBA1_1
Description:amyloid beta precursor protein binding family A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13354  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,672,361 - 69,672,421EPDNEW
RGD ID:6814426
Promoter ID:HG_MGC:985
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:BC157030
Position:
Human AssemblyChrPosition (strand)Source
Build 36971,320,586 - 71,321,086 (-)MPROMDB
RGD ID:6807242
Promoter ID:HG_KWN:63607
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001163
Position:
Human AssemblyChrPosition (strand)Source
Build 36971,477,336 - 71,477,836 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 copy number loss See cases [RCV000052904] Chr9:68426796..69606104 [GRCh38]
Chr9:71130848..72221020 [GRCh37]
Chr9:70231532..71410840 [NCBI36]
Chr9:9q21.11-21.12
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)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 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) 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 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12
likely pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:69060538-69564402)x3 copy number gain See cases [RCV000137473] Chr9:69060538..69564402 [GRCh38]
Chr9:71675454..72179318 [GRCh37]
Chr9:70865274..71369138 [NCBI36]
Chr9:9q21.11-21.12
likely benign
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32
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 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
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-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13
likely 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
Single allele deletion Small for gestational age [RCV000161571] Chr9:69485202..69500795 [GRCh38]
Chr9:72100118..72115711 [GRCh37]
Chr9:9q21.12
not provided
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 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 See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-21.12(chr9:71907529-72265504)x3 copy number gain See cases [RCV000446279] Chr9:71907529..72265504 [GRCh37]
Chr9:9q21.11-21.12
likely benign
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 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13
likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
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 9q21.11(chr9:71959778-72185751)x3 copy number gain not provided [RCV000683098] Chr9:71959778..72185751 [GRCh37]
Chr9:9q21.11
likely benign
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31
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 9q21.11(chr9:72027641-72048098)x3 copy number gain not provided [RCV000748461] Chr9:72027641..72048098 [GRCh37]
Chr9:9q21.11
benign
GRCh37/hg19 9q21.11(chr9:72100118-72116806)x1 copy number loss not provided [RCV000748462] Chr9:72100118..72116806 [GRCh37]
Chr9:9q21.11
benign
GRCh37/hg19 9q21.11(chr9:72100118-72132199)x1 copy number loss not provided [RCV000748463] Chr9:72100118..72132199 [GRCh37]
Chr9:9q21.11
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 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(chr9:71910953-72118434)x3 copy number gain not provided [RCV000846190] Chr9:71910953..72118434 [GRCh37]
Chr9:9q21.11
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q21.11(chr9:71965068-72187141)x3 copy number gain not provided [RCV000849350] Chr9:71965068..72187141 [GRCh37]
Chr9:9q21.11
uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
NM_001163.4(APBA1):c.1041G>A (p.Ser347=) single nucleotide variant not provided [RCV000885904] Chr9:69516170 [GRCh38]
Chr9:72131086 [GRCh37]
Chr9:9q21.12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:578 AgrOrtholog
COSMIC APBA1 COSMIC
Ensembl Genes ENSG00000107282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276497 UniProtKB/TrEMBL
Ensembl Protein ENSP00000265381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479031 UniProtKB/TrEMBL
  ENSP00000486435 UniProtKB/TrEMBL
  ENSP00000486873 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000470082 UniProtKB/TrEMBL
  ENST00000617471 UniProtKB/TrEMBL
  ENST00000620509 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107282 GTEx
  ENSG00000276497 GTEx
HGNC ID HGNC:578 ENTREZGENE
Human Proteome Map APBA1 Human Proteome Map
InterPro Apba1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTB/PI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:320 UniProtKB/Swiss-Prot
NCBI Gene 320 ENTREZGENE
OMIM 602414 OMIM
PANTHER PTHR12345:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24869 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SFA9_HUMAN UniProtKB/TrEMBL
  A0A0G2JMD7_HUMAN UniProtKB/TrEMBL
  APBA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O14914 UniProtKB/Swiss-Prot
  O60570 UniProtKB/Swiss-Prot
  Q5VYR8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 APBA1  amyloid beta precursor protein binding family A member 1    amyloid beta (A4) precursor protein-binding, family A, member 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 APBA1  amyloid beta (A4) precursor protein-binding, family A, member 1  APBA1  amyloid beta (A4) precursor protein-binding, family A, member 1  Symbol and/or name change 5135510 APPROVED