AutismKB 2.0

Evidence Details for BTRC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BTRC ( BETA-TRCP,FBW1A,FBXW1,FBXW1A,FWD1,MGC4643,bTrCP,bTrCP1,betaTrCP )
Gene Full Name: beta-transducin repeat containing
Band: 10q24.32
Quick LinksEntrez ID:8945; OMIM: 603482; Uniprot ID:FBW1A_HUMAN; ENSEMBL ID: ENSG00000166167; HGNC ID: 1144
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BTRC|8945|nucleotide
ATGGACCCGGCCGAGGCGGTGCTGCAAGAGAAGGCACTCAAGTTTATGAATTCCTCAGAGAGAGAAGACTGTAATAATGGCGAACCCCCTAGGAAGATAATACCA
GAGAAGAATTCACTTAGACAGACATACAACAGCTGTGCCAGACTCTGCTTAAACCAAGAAACAGTATGTTTAGCAAGCACTGCTATGAAGACTGAGAATTGTGTG
GCCAAAACAAAACTTGCCAATGGCACTTCCAGTATGATTGTGCCCAAGCAACGGAAACTCTCAGCAAGCTATGAAAAGGAAAAGGAACTGTGTGTCAAATACTTT
GAGCAGTGGTCAGAGTCAGATCAAGTGGAATTTGTGGAACATCTTATATCCCAAATGTGTCATTACCAACATGGGCACATAAACTCGTATCTTAAACCTATGTTG
CAGAGAGATTTCATAACTGCTCTGCCAGCTCGGGGATTGGATCATATTGCTGAGAACATTCTGTCATACCTGGATGCCAAATCACTATGTGCTGCTGAACTTGTG
TGCAAGGAATGGTACCGAGTGACCTCTGATGGCATGCTGTGGAAGAAGCTTATCGAGAGAATGGTCAGGACAGATTCTCTGTGGAGAGGCCTGGCAGAACGAAGA
GGATGGGGACAGTATTTATTCAAAAACAAACCTCCTGACGGGAATGCTCCTCCCAACTCTTTTTATAGAGCACTTTATCCTAAAATTATACAAGACATTGAGACA
ATAGAATCTAATTGGAGATGTGGAAGACATAGTTTACAGAGAATTCACTGCCGAAGTGAAACAAGCAAAGGAGTTTACTGTTTACAGTATGATGATCAGAAAATA
GTAAGCGGCCTTCGAGACAACACAATCAAGATCTGGGATAAAAACACATTGGAATGCAAGCGAATTCTCACAGGCCATACAGGTTCAGTCCTCTGTCTCCAGTAT
GATGAGAGAGTGATCATAACAGGATCATCGGATTCCACGGTCAGAGTGTGGGATGTAAATACAGGTGAAATGCTAAACACGTTGATTCACCATTGTGAAGCAGTT
CTGCACTTGCGTTTCAATAATGGCATGATGGTGACCTGCTCCAAAGATCGTTCCATTGCTGTATGGGATATGGCCTCCCCAACTGACATTACCCTCCGGAGGGTG
Show »

>BTRC|8945|protein
MDPAEAVLQEKALKFMNSSEREDCNNGEPPRKIIPEKNSLRQTYNSCARLCLNQETVCLASTAMKTENCVAKTKLANGTSSMIVPKQRKLSASYEKEKELCVKYF
EQWSESDQVEFVEHLISQMCHYQHGHINSYLKPMLQRDFITALPARGLDHIAENILSYLDAKSLCAAELVCKEWYRVTSDGMLWKKLIERMVRTDSLWRGLAERR
GWGQYLFKNKPPDGNAPPNSFYRALYPKIIQDIETIESNWRCGRHSLQRIHCRSETSKGVYCLQYDDQKIVSGLRDNTIKIWDKNTLECKRILTGHTGSVLCLQY
DERVIITGSSDSTVRVWDVNTGEMLNTLIHHCEAVLHLRFNNGMMVTCSKDRSIAVWDMASPTDITLRRVLVGHRAAVNVVDFDDKYIVSASGDRTIKVWNTSTC
EFVRTLNGHKRGIACLQYRDRLVVSGSSDNTIRLWDIECGACLRVLEGHEELVRCIRFDNKRIVSGAYDGKIKVWDLVAALDPRAPAGTLCLRTLVEHSGRVFRL
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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top