AutismKB 2.0

Evidence Details for BCAS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCAS1 ( AIBC1,NABC1 )
Gene Full Name: breast carcinoma amplified sequence 1
Band: 20q13.2
Quick LinksEntrez ID:8537; OMIM: 602968; Uniprot ID:BCAS1_HUMAN; ENSEMBL ID: ENSG00000064787; HGNC ID: 974
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BCAS1|8537|nucleotide
ATGGGTAACCAAATGAGTGTTCCCCAAAGAGTTGAAGACCAAGAGAATGAACCAGAAGCAGAGACTTACCAGGACAACGCGTCTGCTCTGAACGGGGTTCCAGTG
GTGGTGTCGACCCACACAGTTCAGCACTTAGAGGAAGTCGACTTGGGAATAAGTGTCAAGACGGATAATGTGGCCACTTCTTCCCCCGAGACAACGGAGATAAGT
GCTGTTGCGGATGCCAACGGAAAGAATCTTGGGAAAGAGGCCAAACCCGAGGCACCAGCTGCTAAATCTCGTTTTTTCTTGATGCTCTCTCGGCCTGTACCAGGA
CGTACCGGAGACCAAGCCGCAGATTCATCCCTTGGATCAGTGAAGCTTGATGTCAGCTCCAATAAAGCTCCAGCGAACAAAGACCCAAGTGAGAGCTGGACACTT
CCGGTGGCAGCTGGACCGGGGCAGGACACAGATAAAACCCCAGGGCACGCCCCGGCCCAAGACAAGGTCCTCTCTGCCGCCAGGGATCCCACGCTTCTCCCACCT
GAGACAGGGGGAGCAGGAGGAGAAGCTCCCTCCAAGCCCAAGGACTCCAGCTTTTTTGACAAATTCTTCAAGCTGGACAAGGGACAGGAAAAGGTGCCAGGTGAC
AGCCAACAGGAAGCCAAGAGGGCAGAGCATCAAGACAAGGTGGATGAGGTTCCTGGCTTATCAGGGCAGTCCGATGATGTCCCTGCAGGGAAGGACATAGTTGAC
GGCAAGGAAAAAGAAGGACAAGAACTTGGAACTGCGGATTGCTCTGTCCCTGGGGACCCAGAAGGACTGGAGACTGCAAAGGACGATTCCCAGGCAGCAGCTATA
GCAGAGAATAATAATTCCATCATGAGTTTCTTTAAAACTCTGGTTTCACCTAACAAAGCTGAAACAAAAAAGGACCCAGAAGACACGGGTGCTGAAAAGTCACCC
ACCACTTCAGCTGACCTTAAGTCAGACAAAGCCAACTTTACATCCCAGGAGACCCAAGGGGCTGGCAAGAATTCCAAAGGATGCAACCCATCGGGGCACACACAG
TCCGTGACAACCCCTGAACCTGCGAAGGAAGGCACCAAGGAGAAATCAGGACCCACCTCTCTGCCTCTGGGCAAACTGTTTTGGAAAAAGTCAGTTAAAGAGGAC
Show »

>BCAS1|8537|protein
MGNQMSVPQRVEDQENEPEAETYQDNASALNGVPVVVSTHTVQHLEEVDLGISVKTDNVATSSPETTEISAVADANGKNLGKEAKPEAPAAKSRFFLMLSRPVPG
RTGDQAADSSLGSVKLDVSSNKAPANKDPSESWTLPVAAGPGQDTDKTPGHAPAQDKVLSAARDPTLLPPETGGAGGEAPSKPKDSSFFDKFFKLDKGQEKVPGD
SQQEAKRAEHQDKVDEVPGLSGQSDDVPAGKDIVDGKEKEGQELGTADCSVPGDPEGLETAKDDSQAAAIAENNNSIMSFFKTLVSPNKAETKKDPEDTGAEKSP
TTSADLKSDKANFTSQETQGAGKNSKGCNPSGHTQSVTTPEPAKEGTKEKSGPTSLPLGKLFWKKSVKEDSVPTGAEENVVCESPVEIIKSKEVESALQTVDLNE
GDAAPEPTEAKLKREESKPRTSLMAFLRQMSVKGDGGITHSEEINGKDSSCQTSDSTEKTITPPEPEPTGAPQKGKEGSSKDKKSAAEMNKQKSNKQEAKEPAQC
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 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Kuo PH, 2015_1 Discovery Affymetrix SNP array 6.0 597
(-)
ASD -
-
- 1595
(-)
-
-
CNV Studies Top
Linkage Studies Top