AutismKB 2.0

Evidence Details for C9orf30


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Basic Information Top
Gene Symbol:C9orf30 ( FLJ34973,MGC17337 )
Gene Full Name: chromosome 9 open reading frame 30
Band: 9q31.1
Quick LinksEntrez ID:91283; OMIM: NA; Uniprot ID:CI030_HUMAN; ENSEMBL ID: ENSG00000066697; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf30|91283|nucleotide
ATGCAAAACAACGAAATTATAAAGCCTGCCAAATACTTCTCAGAATTGGAAAAGAGCATCCTGCTGGCTTTAGTAGAAAAGTATAAATATGTGCTGGAATGTAAG
AAAAGTGATGCGCGAACTATTGCCCTTAAGCAGCGTACCTGGCAGGCGCTGGCCCACGAATACAACTCTCAGCCCAGCGTGTCCCTGCGGGATTTCAAACAGCTG
AAGAAGTGCTGGGAGAACATCAAGGCTCGGACCAAAAAAATTATGGCCCATGAAAGGAGAGAGAAAGTGAAACGGAGCGTCAGCCCTCTCCTGAGTACCCACGTC
CTAGGGAAGGAGAAGATCGCCAGCATGCTGCCGGAGCAGCTCTACTTCCTGCAGAGCCCCCCGGAGGAGGAGCCCGAATACCACCCCGACGCCTCAGCCCAAGAA
TCATTTGCTGTTTCAAATAGAGAACTGTGCGATGATGAGAAAGAGTTCATACATTTTCCAGTATGTGAGGGGACCTCTCAACCTGAACCCTCGTGTTCAGCTGTC
AGAATAACAGCCAATAAAAACTACAGGAGCAAAACCTCTCAGGAAGGTGCTTTAAAAAAGATGCATGAGGAAGAACACCATCAACAAATGTCCATCTTACAACTG
CAACTGATACAAATGAATGAGGTGCATGTGGCCAAAATCCAGCAGATAGAGCGAGAGTGTGAGATGGCAGAGGAGGAACACAGGATAAAAATGGAAGTTCTCAAT
AAAAAGAAGATGTATTGGGAAAGAAAACTACAAACTTTTACCAAGGAATGGCCTGTTTCCTCATTTAACCGGCCCTTTCCCAATTCGCCCTAA



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>C9orf30|91283|protein
MQNNEIIKPAKYFSELEKSILLALVEKYKYVLECKKSDARTIALKQRTWQALAHEYNSQPSVSLRDFKQLKKCWENIKARTKKIMAHERREKVKRSVSPLLSTHV
LGKEKIASMLPEQLYFLQSPPEEEPEYHPDASAQESFAVSNRELCDDEKEFIHFPVCEGTSQPEPSCSAVRITANKNYRSKTSQEGALKKMHEEEHHQQMSILQL
QLIQMNEVHVAKIQQIERECEMAEEEHRIKMEVLNKKKMYWERKLQTFTKEWPVSSFNRPFPNSP


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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top