AutismKB 2.0

Evidence Details for DLGAP1


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Basic Information Top
Gene Symbol:DLGAP1 ( DAP-1,DAP-1-ALPHA,DAP-1-BETA,GKAP,MGC88156,SAPAP1,hGKAP )
Gene Full Name: discs, large (Drosophila) homolog-associated protein 1
Band: 18p11.31
Quick LinksEntrez ID:9229; OMIM: 605445; Uniprot ID:DLGP1_HUMAN; ENSEMBL ID: ENSG00000170579; HGNC ID: 2905
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLGAP1|9229|nucleotide
ATGAACTTAATTTTCCATAAAGACATTCTGTTTGGCATTCCAGCTAATAAGGTTCCACAAGATGAATGGACAGGGTACACCCCACGAGGTAAAGATGATGAAATT
CCATGCCGAAGAATGCGGAGTGGCAGTTATATCAAGGCCATGGGGGATGAAGACAGTGGAGACTCAGACACGAGTCCTAAGCCTTCTCCAAAAGTTGCTGCGCGG
AGAGAAAGCTATCTCAAGGCTACTCAGCCATCCCTTACAGAACTCACCACACTCAAAATCTCCAATGAACACTCACCCAAACTCCAGATCCGGAGTCATAGTTAC
CTGAGGGCAGTGAGTGAAGTCTCCATCAACCGGAGCCTGGACAGCCTGGACCCTGCAGGCTTGCTCACATCACCAAAGTTCCGCTCCAGGAATGAGAGCTACATG
CGAGCCATGAGCACCATCAGCCAGGTGAGCGAGATGGAAGTGAACGGGCAGTTCGAGTCCGTGTGCGAGTCCGTGTTCAGCGAGCTGGAGTCGCAGGCCGTGGAA
GCGCTGGACCTGCCCATGCCCGGCTGCTTCCGCATGCGGAGCCACAGCTATGTGCGGGCCATTGAGAAAGGCTGCTCCCAGGACGACGAGTGCGTGTCCCTGAGG
TCGTCCTCGCCGCCGCGCACCACCACCACCGTTAGGACCATCCAGAGCAGCACGGTGTCATCTTGCATTACAACATATAAGAAGACACCACCTCCAGTCCCACCC
AGAACTACCACGAAACCTTTCATTTCTATCACAGCCCAGAGTAGCACAGAGTCAGCCCAGGATGCCTACATGGACGGACAGGGCCAGCGAGGAGATATTATCAGC
CAGTCTGGACTCAGCAACTCCACCGAGAGCCTGGACAGTATGAAGGCTCTGACAGCCGCCATCGAAGCTGCAAACGCCCAGATCCATGGCCCTGCCAGTCAACAC
ATGGGCAATAACACTGCCACTGTCACCACCACGACTACCATAGCCACCGTCACCACGGAGGACAGGAAGAAGGACCACTTTAAGAAAAATCGATGCCTGTCTATC
GGGATACAGGTGGATGATGCTGAAGAACCTGACAAAACAGGGGAGAATAAAGCACCCAGTAAGTTCCAGTCCGTGGGAGTGCAAGTAGAAGAAGAGAAGTGCTTC
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>DLGAP1|9229|protein
MNLIFHKDILFGIPANKVPQDEWTGYTPRGKDDEIPCRRMRSGSYIKAMGDEDSGDSDTSPKPSPKVAARRESYLKATQPSLTELTTLKISNEHSPKLQIRSHSY
LRAVSEVSINRSLDSLDPAGLLTSPKFRSRNESYMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLR
SSSPPRTTTTVRTIQSSTVSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQH
MGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDNSC
PGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDI
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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) 1 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top