AutismKB 2.0

Evidence Details for CCBL2


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Basic Information Top
Gene Symbol:CCBL2 ( DKFZp547N1117,DKFZp667D0223,KAT3,KATIII,MGC9398,RP4-531M19.2 )
Gene Full Name: cysteine conjugate-beta lyase 2
Band: 1p22.2
Quick LinksEntrez ID:56267; OMIM: 610656; Uniprot ID:KAT3_HUMAN; ENSEMBL ID: ENSG00000137944; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCBL2|56267|nucleotide
ATGTTTTTGGCCCAGAGGAGCCTCTGCTCTCTTAGCGGTAGAGCAAAATTCCTGAAGACAATTTCTTCTTCCAAAATCCTCGGATTCTCTACTTCTGCTAAAATG
TCACTGAAATTCACAAATGCAAAACGGATTGAAGGACTTGATAGTAATGTGTGGATTGAATTTACCAAATTGGCTGCAGACCCTTCTGTTGTGAATCTTGGCCAA
GGCTTTCCAGATATATCCCCTCCTACATATGTAAAAGAAGAATTATCAAAGATTGCAGCAATCGATAGCCTGAATCAGTATACACGAGGCTTTGGCCATCCATCA
CTTGTGAAAGCTCTGTCCTATCTGTATGAAAAGCTTTATCAAAAGCAAATTGATTCAAATAAAGAAATCCTTGTGACAGTAGGAGCATATGGATCTCTTTTTAAC
ACCATTCAAGCATTAATTGATGAGGGAGATGAAGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTT
ATTCCCCTGAGATCTAAACCTGTTTATGGAAAAAGATGGTCTAGTTCTGACTGGACATTAGATCCTCAAGAACTGGAAAGTAAATTTAATTCCAAAACCAAAGCT
ATTATACTAAATACTCCACATAACCCACTTGGCAAGGTGTATAACAGAGAGGAACTGCAAGTAATTGCTGACCTTTGCATCAAATATGACACACTCTGCATCAGC
GATGAGGTTTATGAATGGCTTGTATATTCTGGAAATAAGCACTTAAAAATAGCTACTTTTCCAGGTATGTGGGAGAGAACAATAACAATAGGAAGTGCTGGAAAG
ACTTTCAGTGTAACTGGCTGGAAGCTTGGCTGGTCCATTGGTCCAAATCATTTGATAAAACATTTACAGACAGTTCAACAAAACACGATTTATACTTGTGCAACT
CCTTTACAGGAAGCCTTGGCTCAAGCTTTCTGGATTGACATCAAGCGCATGGATGACCCAGAATGTTACTTTAATTCTTTGCCAAAAGAGTTAGAAGTAAAAAGA
GATCGGATGGTACGTTTACTTGAAAGTGTTGGCCTAAAACCCATAGTTCCTGATGGAGGATACTTCATCATCGCTGATGTGTCTTTGCTAGATCCAGACCTCTCT
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>CCBL2|56267|protein
MFLAQRSLCSLSGRAKFLKTISSSKILGFSTSAKMSLKFTNAKRIEGLDSNVWIEFTKLAADPSVVNLGQGFPDISPPTYVKEELSKIAAIDSLNQYTRGFGHPS
LVKALSYLYEKLYQKQIDSNKEILVTVGAYGSLFNTIQALIDEGDEVILIVPFYDCYEPMVRMAGATPVFIPLRSKPVYGKRWSSSDWTLDPQELESKFNSKTKA
IILNTPHNPLGKVYNREELQVIADLCIKYDTLCISDEVYEWLVYSGNKHLKIATFPGMWERTITIGSAGKTFSVTGWKLGWSIGPNHLIKHLQTVQQNTIYTCAT
PLQEALAQAFWIDIKRMDDPECYFNSLPKELEVKRDRMVRLLESVGLKPIVPDGGYFIIADVSLLDPDLSDMKNNEPYDYKFVKWMTKHKKLSAIPVSAFCNSET
KSQFEKFVRFCFIKKDSTLDAAEEIIKAWSVQKS
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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