AutismKB 2.0

Evidence Details for DIAPH2


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Basic Information Top
Gene Symbol:DIAPH2 ( DIA,DIA2,DRF2,FLJ11167,POF,POF2 )
Gene Full Name: diaphanous homolog 2 (Drosophila)
Band: Xq21.33
Quick LinksEntrez ID:1730; OMIM: 300108; Uniprot ID:DIAP2_HUMAN; ENSEMBL ID: ENSG00000147202; HGNC ID: 2877
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DIAPH2|1730|nucleotide
ATGGAGCAGCCCGGGGCGGCGGCGTCGGGAGCGGGAGGCGGCAGCGAGGAACCCGGTGGGGGCCGGAGCAACAAGCGGAGCGCGGGGAACCGGGCCGCCAATGAA
GAGGAAACGAAAAACAAACCCAAATTGAACATTCAAATAAAAACTTTGGCAGATGATGTGCGTGACCGAATTACAAGTTTTAGAAAATCTACTGTCAAAAAAGAA
AAACCTCTTATTCAACATCCTATTGATTCTCAAGTCGCGATGAGTGAGTTTCCTGCAGCTCAGCCATTATATGATGAACGATCTTTGAATTTGTCAGAAAAGGAA
GTATTGGATCTCTTTGAAAAAATGATGGAGGACATGAACCTTAACGAAGAGAAAAAAGCTCCTTTACGAAACAAAGACTTTACCACCAAACGTGAGATGGTTGTC
CAGTATATTTCTGCCACTGCCAAATCTGGTGGGCTGAAAAACAGCAAACATGAATGCACCCTGTCTTCACAAGAATATGTTCATGAATTACGATCGGGTATATCA
GATGAGAAACTTCTTAATTGCCTAGAATCCCTCAGGGTTTCTTTAACCAGCAATCCGGTCAGCTGGGTTAACAACTTTGGCCATGAAGGTCTTGGACTCTTATTG
GATGAGCTGGAAAAGCTTCTGGACAAAAAACAGCAAGAAAATATTGACAAGAAGAATCAGTATAAACTTATTCAATGCCTCAAAGCATTTATGAATAATAAGTTT
GGATTACAAAGGATTCTAGGAGATGAAAGAAGTCTTTTACTATTGGCAAGAGCAATTGACCCCAAACAACCCAACATGATGACTGAAATAGTAAAAATACTTTCT
GCTATTTGCATTGTTGGAGAAGAGAACATTCTAGATAAACTTTTAGGGGCTATAACAACAGCAGCAGAAAGAAATAACAGGGAACGATTTTCACCAATTGTGGAA
GGTTTAGAAAATCAGGAAGCCTTGCAATTACAGGTGGCCTGCATGCAGTTTATAAATGCCCTTGTCACTTCTCCTTATGAGCTTGATTTTCGAATACATTTAAGG
AATGAATTCCTCCGTTCAGGACTAAAAACAATGTTACCAGATCTAAAAGAAAAAGAGAATGATGAGCTTGATATTCAGTTGAAAGTATTTGATGAAAACAAAGAA
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>DIAPH2|1730|protein
MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKEKPLIQHPIDSQVAMSEFPAAQPLYDERSLNLSEKE
VLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSGGLKNSKHECTLSSQEYVHELRSGISDEKLLNCLESLRVSLTSNPVSWVNNFGHEGLGLLL
DELEKLLDKKQQENIDKKNQYKLIQCLKAFMNNKFGLQRILGDERSLLLLARAIDPKQPNMMTEIVKILSAICIVGEENILDKLLGAITTAAERNNRERFSPIVE
GLENQEALQLQVACMQFINALVTSPYELDFRIHLRNEFLRSGLKTMLPDLKEKENDELDIQLKVFDENKEDDLTELSHRLNDIRAEMDDMNEVYHLLYNMLKDTA
AENYFLSILQHFLLIRNDYYIRPQYYKIIEECVSQIVLHCSGMDPDFKYRQRLDIDLTHLIDSCVNKAKVEESEQKAAEFSKKFDEEFTARQEAQAELQKRDEKI
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top