AutismKB 2.0

Evidence Details for APPL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:APPL1 ( APPL,DIP13alpha )
Gene Full Name: adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Band: 3p14.3
Quick LinksEntrez ID:26060; OMIM: 604299; Uniprot ID:DP13A_HUMAN; ENSEMBL ID: ENSG00000157500; HGNC ID: 24035
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>APPL1|26060|nucleotide
ATGCCGGGGATCGACAAGCTGCCCATCGAGGAGACGCTGGAGGACAGCCCGCAGACAAGGTCTTTACTAGGTGTATTTGAAGAAGATGCCACAGCTATTTCCAAC
TATATGAACCAGTTGTATCAAGCTATGCATCGGATTTATGATGCACAGAATGAATTAAGTGCAGCAACACACCTGACCTCAAAACTTTTAAAAGAATATGAAAAA
CAGCGTTTTCCATTGGGAGGTGATGATGAAGTTATGAGCTCTACATTGCAACAGTTTTCAAAAGTTATAGATGAGCTTAGCTCTTGTCATGCAGTGCTTTCAACT
CAACTTGCTGATGCCATGATGTTCCCCATTACCCAGTTTAAAGAAAGAGATCTGAAAGAAATACTAACATTAAAGGAAGTATTTCAGATTGCAAGTAATGATCAT
GATGCTGCGATTAATAGATATAGCCGTTTATCAAAAAAAAGAGAAAATGACAAGGTGAAGTATGAAGTAACAGAAGATGTGTACACATCCAGAAAGAAACAACAC
CAGACCATGATGCATTATTTTTGTGCATTAAATACTCTTCAGTACAAGAAGAAAATAGCATTGTTAGAACCTCTACTTGGGTACATGCAAGCTCAGATAAGTTTC
TTTAAGATGGGTTCTGAAAATCTTAATGAACAACTGGAAGAATTTTTAGCTAATATTGGAACAAGCGTTCAGAATGTTCGCAGGGAAATGGACAGTGATATAGAG
ACCATGCAACAGACAATAGAGGATTTGGAAGTAGCCAGTGATCCCTTATATGTGCCTGACCCAGACCCCACCAAATTTCCTGTTAATCGAAATTTAACCCGAAAG
GCTGGATACCTTAATGCTAGGAATAAAACAGGCTTGGTGTCATCTACCTGGGACAGACAGTTTTACTTCACGCAGGGTGGAAATTTAATGAGTCAGGCCCGTGGG
GATGTAGCAGGAGGCCTGGCCATGGACATAGACAACTGTTCAGTGATGGCTGTGGACTGTGAAGACAGACGATATTGTTTTCAGATCACCTCTTTCGATGGAAAA
AAATCTTCAATTTTGCAAGCAGAGAGTAAAAAAGATCATGAAGAGTGGATCTGTACAATAAACAACATATCTAAACAAATATACTTAAGTGAAAATCCAGAGGAA
Show »

>APPL1|26060|protein
MPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAMHRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDELSSCHAVLST
QLADAMMFPITQFKERDLKEILTLKEVFQIASNDHDAAINRYSRLSKKRENDKVKYEVTEDVYTSRKKQHQTMMHYFCALNTLQYKKKIALLEPLLGYMQAQISF
FKMGSENLNEQLEEFLANIGTSVQNVRREMDSDIETMQQTIEDLEVASDPLYVPDPDPTKFPVNRNLTRKAGYLNARNKTGLVSSTWDRQFYFTQGGNLMSQARG
DVAGGLAMDIDNCSVMAVDCEDRRYCFQITSFDGKKSSILQAESKKDHEEWICTINNISKQIYLSENPEETAARVNQSALEAVTPSPSFQQRHESLRPAAGQSRP
PTARTSSSGSLGSESTNLAALSLDSLVAPDTPIQFDIISPVCEDQPGQAKAFGQGGRRTNPFGESGGSTKSETEDSILHQLFIVRFLGSMEVKSDDHPDVVYETM
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top