AutismKB 2.0

Evidence Details for ABCD3


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Basic Information Top
Gene Symbol:ABCD3 ( ABC43,PMP70,PXMP1,ZWS2 )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 3
Band: 1p21.3
Quick LinksEntrez ID:5825; OMIM: 170995; Uniprot ID:ABCD3_HUMAN; ENSEMBL ID: ENSG00000117528; HGNC ID: 67
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCD3|5825|nucleotide
ATGGCGGCCTTCAGCAAGTACTTGACGGCGCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCTGCCTGCTCCACAAGCGGCGCCGCGCCCTCGGCCTG
CACGGTAAGAAAAGTGGAAAACCACCATTACAGAACAATGAGAAAGAGGGGAAAAAGGAGCGAGCTGTGGTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATT
CTGAAAATCATGGTCCCTAGAACATTTTGTAAAGAGACAGGTTACTTGGTACTTATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATTCAA
AATGGGACACTAATTGAAAGTGGTATCATTGGTCGTAGCAGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTTATCTCTCTGGTTAAT
AACTTCTTGAAGTATGGGTTAAATGAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAGGAGTATCTTCAAGCTTTCACATATTATAAAATG
GGGAATCTGGACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTAGTCGATCTGTATTCAAATCTTAGTAAGCCA
TTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCAATTGGAGCTCAGGTACTTGGAAAAATTTTGTGGCATTAA




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>ABCD3|5825|protein
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQ
NGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKP
FLDIVLYIFKLTSAIGAQVLGKILWH


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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top