AutismKB 2.0

Evidence Details for APLF


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Basic Information Top
Gene Symbol:APLF ( APFL,C2orf13,FLJ16593,MGC47799,PALF,Xip1 )
Gene Full Name: aprataxin and PNKP like factor
Band: 2p13.3
Quick LinksEntrez ID:200558; OMIM: 611035; Uniprot ID:APLF_HUMAN; ENSEMBL ID: ENSG00000169621; HGNC ID: 28724
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>APLF|200558|nucleotide
ATGTCCGGGGGCTTCGAGCTGCAGCCGCGGGACGGCGGTCCCCGGGTGGCCCTGGCGCCCGGGGAGACGGTGATCGGCCGCGGGCCGCTGCTGGGAATAACAGAC
AAGAGAGTATCCAGAAGACATGCCATTCTTGAGGTGGCAGGTGGTCAGCTGCGAATCAAACCGATACACACAAATCCATGTTTTTACCAGTCTTCAGAGAAGAGT
CAGCTCTTACCATTGAAGCCAAATCTATGGTGCTATTTGAATCCTGGAGACAGCTTTTCTTTGTTAGTTGACAAATACATTTTCCGCATTCTCTCTATACCCTCT
GAAGTGGAAATGCAATGTACCTTAAGAAACAGTCAAGTGCTTGATGAAGATAATATATTGAATGAAACACCAAAATCCCCCGTGATTAATTTACCTCATGAGACT
ACTGGTGCCTCACAACTGGAAGGAAGCACAGAAATAGCCAAGACCCAGATGACTCCCACAAATAGTGTGTCTTTCCTAGGTGAAAATAGAGACTGCAATAAGCAG
CAGCCAATCCTTGCCGAGAGGAAAAGAATCCTTCCAACTTGGATGTTAGCAGAACATTTAAGTGATCAAAACCTTTCAGTACCAGCAATCAGTGGAGGTAATGTA
ATCCAGGGAAGTGGAAAAGAAGAAATCTGCAAAGATAAATCCCAGCTAAACACAACCCAGCAAGGAAGAAGGCAATTAATTTCATCAGGAAGTTCAGAAAATACA
TCAGCAGAACAAGACACAGGAGAAGAGTGCAAAAATACTGATCAGGAAGAGTCTACCATTTCATCCAAGGAAATGCCACAATCATTTTCTGCAATCACATTAAGT
AACACAGAGATGAATAATATTAAGACTAATGCACAGAGAAACAAACTTCCAATAGAGGAACTTGGTAAAGTTTCTAAACATAAAATTGCCACTAAAAGAACACCA
CATAAAGAAGATGAGGCAATGAGCTGTTCTGAAAATTGTTCGAGTGCCCAGGGCGACTCACTTCAGGATGAGTCTCAAGGGTCTCATTCTGAGTCCAGCTCTAAT
CCCTCCAATCCTGAAACTTTGCATGCAAAGGCAACTGATTCAGTTCTACAAGGTTCTGAAGGAAACAAGGTCAAGAGGACATCCTGCATGTATGGGGCAAACTGC
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>APLF|200558|protein
MSGGFELQPRDGGPRVALAPGETVIGRGPLLGITDKRVSRRHAILEVAGGQLRIKPIHTNPCFYQSSEKSQLLPLKPNLWCYLNPGDSFSLLVDKYIFRILSIPS
EVEMQCTLRNSQVLDEDNILNETPKSPVINLPHETTGASQLEGSTEIAKTQMTPTNSVSFLGENRDCNKQQPILAERKRILPTWMLAEHLSDQNLSVPAISGGNV
IQGSGKEEICKDKSQLNTTQQGRRQLISSGSSENTSAEQDTGEECKNTDQEESTISSKEMPQSFSAITLSNTEMNNIKTNAQRNKLPIEELGKVSKHKIATKRTP
HKEDEAMSCSENCSSAQGDSLQDESQGSHSESSSNPSNPETLHAKATDSVLQGSEGNKVKRTSCMYGANCYRKNPVHFQHFSHPGDSDYGGVQIVGQDETDDRPE
CPYGPSCYRKNPQHKIEYRHNTLPVRNVLDEDNDNVGQPNEYDLNDSFLDDEEEDYEPTDEDSDWEPGKEDEEKEDVEELLKEAKRFMKRK
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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