AutismKB 2.0

Evidence Details for ABCA13


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Basic Information Top
Gene Symbol:ABCA13 ( DKFZp313D2411,FLJ16398,FLJ33876,FLJ33951 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 13
Band: 7p12.3
Quick LinksEntrez ID:154664; OMIM: 607807; Uniprot ID:ABCAD_HUMAN; ENSEMBL ID: ENSG00000179869; HGNC ID: 14638
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCA13|154664|nucleotide
ATGGGGCATGCCGGGTGCCAGTTCAAAGCCCTGCTGTGGAAGAATTGGCTCTGCAGACTCAGGAACCCGGTCCTTTTCCTTGCTGAATTCTTCTGGCCTTGTATC
CTGTTTGTAATTCTGACAGTTCTTCGTTTTCAAGAACCTCCCAGATACAGAGACATTTGTTATTTGCAGCCCCGAGATCTACCCAGCTGTGGTGTTATCCCCTTT
GTTCAAAGCCTTCTTTGTAACACTGGATCAAGGTGTAGGAACTTCAGCTATGAAGGGTCAATGGAGCATCATTTTCGTTTGTCTAGGTTCCAAACTGCAGCTGAC
CCCAAGAAAGTCAACAACCTGGCCTTTTTAAAAGAGATACAAGACCTGGCAGAGGAAATTCATGGAATGATGGACAAGGCAAAAAACTTAAAAAGACTTTGGGTA
GAACGATCCAACACTCCAGATTCTTCTTATGGTTCCAGTTTTTTTACAATGGATCTCAATAAGACCGAGGAGGTAATATTGAAACTGGAAAGCCTCCATCAGCAG
CCTCATATCTGGGATTTTCTACTTTTACTGCCGAGACTACACACAAGCCATGATCATGTGGAAGATGGCATGGATGTTGCAGTGAACCTTCTCCAGACCATTTTG
AATTCCTTAATATCCCTAGAAGATTTAGATTGGCTTCCACTCAACCAAACTTTTTCCCAGGTTTCTGAACTTGTACTGAATGTGACCATTTCGACACTGACATTT
CTGCAGCAACATGGAGTAGCAGTCACCGAGCCAGTTTACCACCTGTCCATGCAGAATATAGTGTGGGATCCACAGAAAGTCCAGTATGATCTCAAATCCCAGTTT
GGCTTTGATGATCTTCACACGGAACAGATCCTGAACTCTTCAGCTGAACTGAAGGAGATTCCCACAGACACTTCCTTGGAGAAGATGGTGTGTTCAGTCTTGTCT
AGCACATCAGAGGATGAAGCTGAGAAATGGGGCCACGTTGGAGGCTGCCACCCTAAGTGGTCAGAAGCCAAAAACTATCTTGTCCATGCAGTCAGCTGGCTGCGA
GTCTACCAACAGGTGTTTGTTCAGTGGCAACAGGGTAGCCTGCTTCAGAAGACACTCACAGGCATGGGCCATAGTCTGGAGGCTCTCAGGAATCAGTTTGAAGAA
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>ABCA13|154664|protein
MGHAGCQFKALLWKNWLCRLRNPVLFLAEFFWPCILFVILTVLRFQEPPRYRDICYLQPRDLPSCGVIPFVQSLLCNTGSRCRNFSYEGSMEHHFRLSRFQTAAD
PKKVNNLAFLKEIQDLAEEIHGMMDKAKNLKRLWVERSNTPDSSYGSSFFTMDLNKTEEVILKLESLHQQPHIWDFLLLLPRLHTSHDHVEDGMDVAVNLLQTIL
NSLISLEDLDWLPLNQTFSQVSELVLNVTISTLTFLQQHGVAVTEPVYHLSMQNIVWDPQKVQYDLKSQFGFDDLHTEQILNSSAELKEIPTDTSLEKMVCSVLS
STSEDEAEKWGHVGGCHPKWSEAKNYLVHAVSWLRVYQQVFVQWQQGSLLQKTLTGMGHSLEALRNQFEEESKPWKVVEALHTALLLLNDSLSADGPKDNHTFPK
ILQHLWKLQSLLQNLPQWPALKRFLQLDGALRNAIAQNLHFVQEVLICLETSANDFKWFELNQLKLEKDVFFWELKQMLAKNAVCPNGRFSEKEVFLPPGNSSIW
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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 (1) 1 (4) 1 (1) 0 (0) 0 (0) 2 (3) 0 (0) 0 (1) 0 (0) 24 (10)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wolpert, 2001 - FISHautism - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top