AutismKB 2.0

Evidence Details for ABCD4


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Basic Information Top
Gene Symbol:ABCD4 ( ABC41,EST352188,P70R,P79R,PMP69,PXMP1L )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 4
Band: 14q24.3
Quick LinksEntrez ID:5826; OMIM: 603214; Uniprot ID:ABCD4_HUMAN; ENSEMBL ID: ENSG00000119688; HGNC ID: 68
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCD4|5826|nucleotide
ATGGCGGTCGCGGGGCCCGCGCCCGGAGCTGGCGCCAGGCCCAGGTTAGATCTGCAATTTCTCCAGCGGTTCCTGCAGATACTGAAGGTTTTGTTTCCTTCTTGG
TCATCACAAAATGCCTTGATGTTCCTGACCCTTTTGTGCCTGACCCTACTGGAGCAATTTGTGATCTACCAGGTTGGCTTGATCCCCAGTCAGTACTATGGGGTC
CTGGGAAACAAAGACTTGGAAGGGTTTAAGACTCTGACATTCCTGGCTGTCATGCTCATTGTTCTGAACTCCACGCTGAAGAGCTTTGATCAGTTCACCTGCAAC
CTGCTGTATGTGAGCTGGAGGAAGGACCTCACTGAGCACCTTCACCGCCTCTACTTCCGGGGCCGTGCGTACTACACCCTCAACGTGCTGCGGGATGACATCGAT
AACCCGGACCAGCGCATCAGCCAGGACGTGGAGCGATTCTGCCGGCAGCTCAGCAGCATGGCCAGCAAGCTCATCATCTCCCCGTTCACCCTCGTCTACTACACT
TACCAGTGCTTCCAAAGCACAGGCTGGCTCGGGCCTGTGAGCATCTTCGGGTATTTCATCCTGGGGACCGTGGTGAACAAAACTTTGATGGGCCCCATTGTGATG
AAGCTGGTGCATCAGGAGAAGCTGGAGGGAGATTTTAGGTTCAAGCACATGCAGATTCGGGTGAATGCGGAGCCTGCTGCTTTCTACAGAGCTGGGCATGTGGAG
CACATGAGGACAGACCGCAGGCTGCAGAGACTCCTTCAGACCCAGAGGGAGCTGATGTCCAAGGAGCTCTGGCTGTACATCGGCATCAACACCTTTGACTATCTG
GGCAGCATCCTGAGTTACGTTGTCATCGCAATCCCCATTTTCAGCGGGGTCTATGGAGACCTGAGTCCCGCAGAGCTTAGCACCCTGGTCAGCAAGAATGCCTTT
GTGTGCATCTACCTCATCAGCTGCTTCACCCAGCTCATCGACCTGTCCACGACGCTCTCAGATGTGGCTGGCTACACGCACAGAATTGGGCAGCTTCGGGAGACG
CTTCTGGACATGTCCCTGAAGTCACAGGACTGCGAGATCCTGGGCGAGAGCGAGTGGGGCTTGGACACACCCCCAGGGTGGCCAGCGGCAGAGCCAGCAGACACA
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>ABCD4|5826|protein
MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCN
LLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVM
KLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAF
VCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT
GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLS
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top