AutismKB 2.0

Evidence Details for C11orf30


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Basic Information Top
Gene Symbol:C11orf30 ( EMSY,FLJ90741 )
Gene Full Name: chromosome 11 open reading frame 30
Band: 11q13.5
Quick LinksEntrez ID:56946; OMIM: 608574; Uniprot ID:EMSY_HUMAN; ENSEMBL ID: ENSG00000158636; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C11orf30|56946|nucleotide
ATGCCTGTTGTGTGGCCAACCCTTCTGGATCTCAGCAGGGATGAATGCAAAAGAATTCTTCGAAAATTGGAATTGGAGGCATATGCTGGAGTTATCAGTGCACTT
CGGGCACAGGGGGATCTCACCAAGGAAAAGAAAGATCTTCTTGGAGAACTATCAAAAGTTCTTAGCATCTCAACAGAACGCCACCGTGCTGAAGTTCGGAGAGCA
GTAAACGATGAACGGTTAACAACAATTGCACATAATATGTCTGGACCTAATAGCTCTTCAGAATGGTCCATTGAAGGTCGTCGATTGGTACCACTGATGCCCCGG
CTCGTTCCCCAAACCGCCTTTACTGTAACAGCTAATGCTGTTGCTAATGCAGCTATCCAGCATAATGCATCTCTTCCAGTGCCTGCAGAAACAGGAAGCAAGGAA
GTGGTTTGCTATTCCTACACAAGTACCACGTCAACCCCAACCTCTACCCCTGTTCCAAGTGGCAGCATAGCAACGGTTAAGTCTCCAAGACCTGCCAGTCCTGCC
TCCAATGTAGTTGTCTTGCCAAGTGGAAGTACTGTTTATGTCAAAAGTGTAAGCTGTTCAGATGAAGATGAAAAACCCAGAAAACGAAGGCGAACAAACTCTTCC
AGCTCCTCTCCTGTTGTTCTAAAGGAAGTTCCAAAGGCCGTTGTTCCAGTCTCAAAGACGATCACTGTGCCTGTGAGTGGTAGTCCCAAGATGAGCAACATCATG
CAGAGCATTGCCAACTCCTTACCACCCCACATGTCTCCTGTAAAAATAACCTTCACTAAACCATCAACACAGACAACAAACACAACAACACAGAAGGTTATTATA
GTCACCACATCACCAAGCTCAACCTTCGTGCCCAACATTCTCTCCAAATCCCATAACTATGCAGCAGTCACTAAGCTTGTACCAACGTCAGTCATTGCTTCTACA
ACCCAGAAGCCACCAGTTGTTATAACTGCTTCACAGTCCTCTCTGGTCAGTAATAGCAGCAGTGGCAGCAGCAGTTCTACACCATCACCTATTCCTAATACAGTT
GCAGTAACAGCTGTGGTGTCCTCTACACCATCTGTGGTCATGTCAACAGTAGCACAAGGTGTATCTACATCAGCAATCAAAATGGCATCAACCAGACTTCCTTCC
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>C11orf30|56946|protein
MPVVWPTLLDLSRDECKRILRKLELEAYAGVISALRAQGDLTKEKKDLLGELSKVLSISTERHRAEVRRAVNDERLTTIAHNMSGPNSSSEWSIEGRRLVPLMPR
LVPQTAFTVTANAVANAAIQHNASLPVPAETGSKEVVCYSYTSTTSTPTSTPVPSGSIATVKSPRPASPASNVVVLPSGSTVYVKSVSCSDEDEKPRKRRRTNSS
SSSPVVLKEVPKAVVPVSKTITVPVSGSPKMSNIMQSIANSLPPHMSPVKITFTKPSTQTTNTTTQKVIIVTTSPSSTFVPNILSKSHNYAAVTKLVPTSVIAST
TQKPPVVITASQSSLVSNSSSGSSSSTPSPIPNTVAVTAVVSSTPSVVMSTVAQGVSTSAIKMASTRLPSPKSLVSAPTQILAQFPKQHQQSPKQQLYQVQQQTQ
QQVAQPSPVSHQQQPQQSPLPPGIKPTIQIKQESGVKIITQQVQPSKILPKPVTATLPTSSNSPIMVVSSNGAIMTTKLVTTPTGTQATYTRPTVSPSIGRMAAT
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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