AutismKB 2.0

Evidence Details for CASC4


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Basic Information Top
Gene Symbol:CASC4 ( DKFZp459F1927,H63,MGC74708 )
Gene Full Name: cancer susceptibility candidate 4
Band: 15q15.3
Quick LinksEntrez ID:113201; OMIM: NA; Uniprot ID:CASC4_HUMAN; ENSEMBL ID: ENSG00000166734; HGNC ID: 24892
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CASC4|113201|nucleotide
ATGGTGGGTTTCGGGGCCAACCGGCGGGCTGGCCGCCTGCCCTCTCTCGTGCTGGTGGTGCTGCTGGTGGTGATCGTCGTCCTCGCCTTCAACTACTGGAGCATC
TCCTCCCGCCACGTCCTGCTTCAGGAGGAGGTGGCCGAGCTGCAGGGCCAGGTCCAGCGCACCGAAGTGGCCCGCGGGCGGCTGGAAAAGCGCAATTCGGACCTC
TTGCTGTTGGTGGACACGCACAAGAAACAGATCGACCAGAAGGAGGCCGACTACGGCCGCCTCAGCAGCCGGCTGCAGGCCAGAGAGGGCCTCGGGAAGAGATGC
GAGGATGACAAGGTTAAACTACAGAACAACATATCGTATCAGATGGCAGACATACATCATTTAAAGGAGCAACTTGCTGAGCTTCGTCAGGAATTTCTTCGACAA
GAAGACCAGCTTCAGGACTATAGGAAGAACAATACTTACCTTGTGAAGAGGTTAGAATATGAAAGTTTTCAGTGTGGACAGCAGATGAAGGAATTGAGAGCACAG
CATGAAGAAAATATTAAAAAGTTAGCAGACCAGTTTTTAGAGGAACAAAAGCAAGAGACCCAAAAGATTCAATCAAATGATGGAAAGGAATTGGATATAAACAAT
CAAGTAGTACCTAAAAATATTCCAAAAGTAGCTGAGAATGTTGCAGATAAGAATGAAGAACCCTCAAGCAATCATATTCCACATGGGAAAGAACAAATCAAAAGA
GGTGGTGATGCAGGGATGCCTGGAATAGAAGAGAATGACCTAGCAAAAGTTGATGATCTTCCCCCTGCTTTAAGGAAGCCTCCTATTTCAGTTTCTCAACATGAA
AGTCATCAAGCAATCTCCCATCTTCCAACTGGACAACCTCTCTCCCCAAATATGCCTCCAGATTCACACATAAACCACAATGGAAACCCCGGTACTTCAAAACAG
AATCCTTCCAGTCCTCTTCAGCGTTTAATTCCAGGCTCAAACTTGGACAGTGAACCCAGAATTCAAACAGATATACTAAAGCAGGCTACCAAGGACAGAGTCAGT
GATTTCCATAAATTGAAGCAAAGCCGATTCTTTGATGAAAATGAATCCCCTGTTGATCCGCAGCATGGCTCTAAACTGGCGGATTATAATGGGGATGATGGTAAC
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>CASC4|113201|protein
MVGFGANRRAGRLPSLVLVVLLVVIVVLAFNYWSISSRHVLLQEEVAELQGQVQRTEVARGRLEKRNSDLLLLVDTHKKQIDQKEADYGRLSSRLQAREGLGKRC
EDDKVKLQNNISYQMADIHHLKEQLAELRQEFLRQEDQLQDYRKNNTYLVKRLEYESFQCGQQMKELRAQHEENIKKLADQFLEEQKQETQKIQSNDGKELDINN
QVVPKNIPKVAENVADKNEEPSSNHIPHGKEQIKRGGDAGMPGIEENDLAKVDDLPPALRKPPISVSQHESHQAISHLPTGQPLSPNMPPDSHINHNGNPGTSKQ
NPSSPLQRLIPGSNLDSEPRIQTDILKQATKDRVSDFHKLKQSRFFDENESPVDPQHGSKLADYNGDDGNVGEYEADKQAELAYNEEEDGDGGEEDVQDDEEREL
QMDPADYGKQHFNDVL
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Evidence summary Top

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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