AutismKB 2.0

Evidence Details for BCAR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCAR1 ( CAS,CAS1,CASS1,CRKAS,FLJ12176,FLJ45059,P130Cas )
Gene Full Name: breast cancer anti-estrogen resistance 1
Band: 16q23.1
Quick LinksEntrez ID:9564; OMIM: 602941; Uniprot ID:BCAR1_HUMAN; ENSEMBL ID: ENSG00000050820; HGNC ID: 971
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BCAR1|9564|nucleotide
ATGCCTGCCAAGCCCTTCCTCTCTTCTGTTCTGCTCTCCTGGAAAGTTCTGGACTTCTCTGGCCCAGGGCCTCAGGGGACTGGCCAGCCCTGCTCCTGTGGGCAC
TGGGCAGAGGGACAAGGCGGACCACCTGAGCCTGCTGGAGGGCCGAACGTGCTGGCCAAAGCGCTCTATGACAATGTGGCCGAGTCCCCGGATGAGCTCTCCTTC
CGCAAGGGTGACATCATGACGGTGCTGGAGCAGGACACGCAGGGCCTGGACGGCTGGTGGCTCTGCTCGCTGCATGGGCGCCAGGGCATCGTGCCTGGGAACCGC
CTCAAGATCTTGGTGGGCATGTATGATAAGAAGCCAGCAGGGCCTGGCCCCGGCCCTCCCGCCACCCCGGCCCAGCCTCAGCCTGGCCTCCATGCCCCAGCGCCT
CCGGCCTCCCAGTACACGCCCATGCTCCCCAACACCTACCAGCCCCAGCCAGACAGCGTCTACCTGGTGCCCACTCCCAGCAAGGCTCAGCAAGGCCTCTACCAA
GTCCCGGGTCCCAGCCCTCAGTTCCAGTCTCCCCCAGCCAAGCAGACATCCACCTTCTCGAAGCAGACACCCCATCACCCGTTTCCCAGCCCGGCCACAGACCTG
TACCAGGTGCCCCCAGGGCCTGGAGGCCCTGCCCAGGATATTTACCAGGTGCCACCTTCTGCCGGGATGGGGCATGACATCTACCAGGTCCCCCCGTCCATGGAC
ACACGCAGCTGGGAGGGCACGAAGCCCCCGGCAAAGGTGGTGGTGCCCACCCGCGTGGGGCAGGGCTATGTATACGAGGCCGCCCAGCCGGAGCAGGACGAGTAC
GACATCCCGCGACACCTGCTGGCCCCGGGGCCACAGGACATCTATGATGTGCCCCCGGTTCGGGGGCTGCTTCCCAGCCAGTATGGCCAGGAGGTGTATGACACA
CCCCCCATGGCTGTCAAGGGTCCCAATGGCCGAGACCCGTTGCTGGAGGTGTATGACGTGCCCCCCAGTGTGGAGAAGGGCCTGCCACCGTCCAACCACCACGCA
GTCTACGACGTTCCTCCATCGGTGAGCAAGGATGTGCCCGATGGCCCACTGCTGCGTGAGGAGACCTACGATGTGCCCCCCGCCTTCGCCAAGGCCAAGCCCTTT
Show »

>BCAR1|9564|protein
MPAKPFLSSVLLSWKVLDFSGPGPQGTGQPCSCGHWAEGQGGPPEPAGGPNVLAKALYDNVAESPDELSFRKGDIMTVLEQDTQGLDGWWLCSLHGRQGIVPGNR
LKILVGMYDKKPAGPGPGPPATPAQPQPGLHAPAPPASQYTPMLPNTYQPQPDSVYLVPTPSKAQQGLYQVPGPSPQFQSPPAKQTSTFSKQTPHHPFPSPATDL
YQVPPGPGGPAQDIYQVPPSAGMGHDIYQVPPSMDTRSWEGTKPPAKVVVPTRVGQGYVYEAAQPEQDEYDIPRHLLAPGPQDIYDVPPVRGLLPSQYGQEVYDT
PPMAVKGPNGRDPLLEVYDVPPSVEKGLPPSNHHAVYDVPPSVSKDVPDGPLLREETYDVPPAFAKAKPFDPARTPLVLAAPPPDSPPAEDVYDVPPPAPDLYDV
PPGLRRPGPGTLYDVPRERVLPPEVADGGVVDSGVYAVPPPAEREAPAEGKRLSASSTGSTRSSQSASSLEVAGPGREPLELEVAVEALARLQQGVSATVAHLLD
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.22 Up 0.0327
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1672596
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018