AutismKB 2.0

Evidence Details for DIS3L2


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Basic Information Top
Gene Symbol:DIS3L2 ( FAM6A,FLJ36974,MGC42174 )
Gene Full Name: DIS3 mitotic control homolog (S. cerevisiae)-like 2
Band: 2q37.1
Quick LinksEntrez ID:129563; OMIM: NA; Uniprot ID:DI3L2_HUMAN; ENSEMBL ID: ENSG00000144535; HGNC ID: 28648
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DIS3L2|129563|nucleotide
ATGAGCCATCCTGACTACAGAATGAACCTCCGGCCCCTGGGGACCCCCAGAGGTGTGTCTGCTGTGGCTGGTCCACATGACATTGGTGCTTCGCCAGGTGACAAA
AAGTCAAAGAACAGGTCCACACGAGGGAAGAAAAAGAGCATATTTGAAACTTACATGTCCAAGGAGGATGTTTCAGAAGGCTTGAAGAGAGGAACACTCATCCAG
GGTGTATTGAGAATTAATCCAAAGAAGTTTCATGAAGCCTTCATTCCTTCCCCGGATGGTGATCGAGACATTTTTATTGATGGGGTTGTTGCTCGTAATAGAGCC
TTAAATGGGGATCTGGTGGTCGTGAAACTGCTTCCCGAGGAGCATTGGAAGGTAGTTAAACCAGAGAGCAATGACAAAGAAACAGAAGCTGCGTATGAATCAGAT
ATCCCCGAGGAGCTCTGTGGACACCATCTCCCGCAACAGTCCCTGAAAAGCTATAATGACAGTCCTGATGTCATTGTAGAGGCTCAGTTTGATGGCAGCGACTCA
GAAGATGGACATGGCATCACACAAAATGTGCTGGTTGATGGTGTTAAGAAACTCTCAGTTTGTGTTTCTGAGAAAGGAAGAGAGGATGGTGATGCACCGGTTACA
AAAGATGAGACCACCTGCATTTCACAAGACACAAGAGCTTTATCGGAGAAATCCCTGCAAAGATCAGCAAAGGTGGTTTACATCTTGGAGAAAAAACATTCTCGA
GCAGCAACCGGCTTCCTCAAACTCTTGGCTGATAAGAACAGCGAACTGTTTAGGAAATACGCCCTGTTTTCTCCCTCAGACCACCGAGTGCCTAGAATTTATGTG
CCTCTCAAGGACTGTCCCCAGGACTTTGTGGCACGGCCTAAAGATTATGCCAACACACTGTTCATCTGCCGCATTGTGGACTGGAAGGAGGACTGCAATTTTGCC
CTGGGGCAGCTGGCTAAGAGTCTTGGGCAGGCTGGTGAAATTGAGCCTGAAACAGAAGGAATACTAACAGAGTATGGCGTGGATTTCTCTGATTTCTCTTCAGAA
GTTCTAGAATGTCTTCCTCAAGGCCTGCCATGGACAATTCCACCAGAGGAGTTCAGCAAGAGAAGGGATTTAAGAAAAGACTGTATCTTCACCATTGACCCATCA
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>DIS3L2|129563|protein
MSHPDYRMNLRPLGTPRGVSAVAGPHDIGASPGDKKSKNRSTRGKKKSIFETYMSKEDVSEGLKRGTLIQGVLRINPKKFHEAFIPSPDGDRDIFIDGVVARNRA
LNGDLVVVKLLPEEHWKVVKPESNDKETEAAYESDIPEELCGHHLPQQSLKSYNDSPDVIVEAQFDGSDSEDGHGITQNVLVDGVKKLSVCVSEKGREDGDAPVT
KDETTCISQDTRALSEKSLQRSAKVVYILEKKHSRAATGFLKLLADKNSELFRKYALFSPSDHRVPRIYVPLKDCPQDFVARPKDYANTLFICRIVDWKEDCNFA
LGQLAKSLGQAGEIEPETEGILTEYGVDFSDFSSEVLECLPQGLPWTIPPEEFSKRRDLRKDCIFTIDPSTARDLDDALSCKPLADGNFKVGVHIADVSYFVPEG
SDLDKVAAERATSVYLVQKVVPMLPRLLCEELCSLNPMSDKLTFSVIWTLTPEGKILDEWFGRTIIRSCTKLSYEHAQSMIESPTEKIPAKELPPISPEHSSEEV
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top