AutismKB 2.0

Evidence Details for ACE


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Basic Information Top
Gene Symbol:ACE ( ACE1,CD143,DCP,DCP1,MGC26566,MVCD3 )
Gene Full Name: angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Band: 17q23.3
Quick LinksEntrez ID:1636; OMIM: 106180; Uniprot ID:ACE_HUMAN; ENSEMBL ID: ENSG00000159640; HGNC ID: 2707
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACE|1636|nucleotide
ATGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTGCTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAG
CCCGGCAACTTTTCTGCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTGCTGTTCCAGAGCGTGGCCGCCAGCTGGGCG
CACGACACCAACATCACCGCGGAGAATGCAAGGCGCCAGGAGGAAGCAGCCCTGCTCAGCCAGGAGTTTGCGGAGGCCTGGGGCCAGAAGGCCAAGGAGCTGTAT
GAACCGATCTGGCAGAACTTCACGGACCCGCAGCTGCGCAGGATCATCGGAGCTGTGCGCACCCTGGGCTCTGCCAACCTGCCCCTGGCTAAGCGGCAGCAGTAC
AACGCCCTGCTAAGCAACATGAGCAGGATCTACTCCACCGCCAAGGTCTGCCTCCCCAACAAGACTGCCACCTGCTGGTCCCTGGACCCAGATCTCACCAACATC
CTGGCTTCCTCGCGAAGCTACGCCATGCTCCTGTTTGCCTGGGAGGGCTGGCACAACGCTGCGGGCATCCCGCTGAAACCGCTGTACGAGGATTTCACTGCCCTC
AGCAATGAAGCCTACAAGCAGGACGGCTTCACAGACACGGGGGCCTACTGGCGCTCCTGGTACAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACCAA
CAGCTAGAGCCCCTCTACCTGAACCTCCATGCCTTCGTCCGCCGCGCACTGCATCGCCGATACGGAGACAGATACATCAACCTCAGGGGACCCATCCCTGCTCAT
CTGCTGGGAGACATGTGGGCCCAGAGCTGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAG
GGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAG
CCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGATCAAGCAGTGCACACGGGTCACGATGGACCAGCTC
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>ACE|1636|protein
MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELY
EPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTAL
SNEAYKQDGFTDTGAYWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQ
GWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAI
GDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVT
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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 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top