AutismKB 2.0

Evidence Details for ANAPC7


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Basic Information Top
Gene Symbol:ANAPC7 ( APC7 )
Gene Full Name: anaphase promoting complex subunit 7
Band: 12q24.11
Quick LinksEntrez ID:51434; OMIM: 606949; Uniprot ID:APC7_HUMAN; ENSEMBL ID: ENSG00000196510; HGNC ID: 17380
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANAPC7|51434|nucleotide
ATGGACCCCGGCGACGCCGCCATTTTGGAGTCTTCCCTAAGGATCCTCTACCGGCTTTTCGAGTCAGTGCTGCCGCCGCTGCCCGCGGCTTTGCAGAGCAGGATG
AATGTGATAGACCACGTGCGGGACATGGCGGCCGCGGGGCTGCACTCCAACGTGCGGCTCCTCAGCAGCTTGTTACTTACAATGAGTAATAACAACCCTGAGTTA
TTCTCCCCACCTCAGAAGTACCAGCTTTTGGTGTATCATGCAGATTCTCTCTTTCATGATAAGGAATATCGGAATGCTGTGAGTAAGTATACCATGGCTTTACAG
CAGAAGAAAGCGCTAAGTAAAACTTCAAAAGTGAGACCTTCAACTGGAAATTCTGCATCTACTCCACAAAGTCAGTGTCTTCCATCTGAAATTGAAGTGAAATAC
AAAATGGCTGAATGTTATACAATGCTAAAACAAGATAAAGATGCCATTGCTATACTTGATGGGATCCCTTCAAGACAAAGAACTCCCAAAATAAACATGATGCTG
GCAAACCTGTACAAGAAGGCTGGTCAGGAGCGCCCTTCAGTCACCAGCTATAAGGAGGTGCTGAGGCAGTGCCCATTAGCCCTTGATGCCATTCTAGGCTTGTTG
TCCCTTTCTGTAAAAGGGGCAGAGGTGGCATCCATGACAATGAATGTGATCCAAACCGTGCCTAACTTGGACTGGCTCTCTGTGTGGATCAAAGCGTATGCTTTT
GTGCACACTGGTGACAACTCAAGAGCAATCAGTACCATCTGTTCACTAGAGAAAAAATCCTTATTGCGAGATAACGTGGACCTATTGGGAAGCTTGGCAGATCTG
TACTTCAGAGCTGGAGACAATAAAAACTCTGTCCTCAAGTTTGAACAGGCACAGATGTTGGATCCTTATCTGATAAAAGGAATGGATGTATATGGCTACCTACTG
GCACGAGAAGGGCGGCTAGAGGATGTTGAGAACCTTGGATGCCGCCTTTTCAATATCTCTGATCAGCATGCAGAACCGTGGGTGGTTTCTGGCTGTCACAGCTTC
TATAGCAAACGCTACTCCCGGGCCCTCTATTTAGGAGCCAAGGCCATTCAGCTGAACAGTAATAGTGTTCAAGCTCTGCTACTTAAGGGAGCAGCACTTAGGAAC
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>ANAPC7|51434|protein
MDPGDAAILESSLRILYRLFESVLPPLPAALQSRMNVIDHVRDMAAAGLHSNVRLLSSLLLTMSNNNPELFSPPQKYQLLVYHADSLFHDKEYRNAVSKYTMALQ
QKKALSKTSKVRPSTGNSASTPQSQCLPSEIEVKYKMAECYTMLKQDKDAIAILDGIPSRQRTPKINMMLANLYKKAGQERPSVTSYKEVLRQCPLALDAILGLL
SLSVKGAEVASMTMNVIQTVPNLDWLSVWIKAYAFVHTGDNSRAISTICSLEKKSLLRDNVDLLGSLADLYFRAGDNKNSVLKFEQAQMLDPYLIKGMDVYGYLL
AREGRLEDVENLGCRLFNISDQHAEPWVVSGCHSFYSKRYSRALYLGAKAIQLNSNSVQALLLKGAALRNMGRVQEAIIHFREAIRLAPCRLDCYEGLIECYLAS
NSIREAMVMANNVYKTLGANAQTLTLLATVCLEDPVTQEKAKTLLDKALTQRPDYIKAVVKKAELLSREQKYEDGIALLRNALANQSDCVLHRILGDFLVAVNEY
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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 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top