AutismKB 2.0

Evidence Details for ALDH18A1


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Basic Information Top
Gene Symbol:ALDH18A1 ( GSAS,MGC117316,P5CS,PYCS )
Gene Full Name: aldehyde dehydrogenase 18 family, member A1
Band: 10q24.1
Quick LinksEntrez ID:5832; OMIM: 138250; Uniprot ID:P5CS_HUMAN; ENSEMBL ID: ENSG00000059573; HGNC ID: 9722
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALDH18A1|5832|nucleotide
ATGTTGAGTCAAGTTTACCGCTGTGGGTTCCAGCCCTTCAACCAACATCTTCTGCCCTGGGTCAAGTGTACAACCGTCTTCAGATCTCATTGTATCCAGCCTTCA
GTCATCAGACATGTTCGTTCTTGGAGCAACATCCCGTTTATCACTGTACCCCTCAGTCGTACACATGGCAAGTCCTTCGCCCACCGCAGTGAGCTGAAGCATGCC
AAGAGAATCGTGGTGAAGCTCGGCAGTGCCGTGGTGACCCGAGGGGATGAATGTGGCCTGGCCCTGGGGCGCTTGGCATCTATTGTTGAGCAGGTATCAGTGCTG
CAGAATCAGGGCAGAGAGATGATGCTGGTGACCAGTGGAGCCGTAGCCTTTGGCAAACAACGCTTGCGCCATGAGATCCTTCTGTCTCAGAGCGTGCGGCAGGCC
CTCCACTCGGGGCAGAACCAGCTGAAAGAAATGGCAATTCCAGTCTTAGAGGCACGAGCCTGTGCAGCTGCCGGACAGAGTGGGCTGATGGCCTTGTATGAGGCT
ATGTTTACCCAGTACAGCATCTGTGCTGCCCAGATTTTGGTGACCAATTTGGATTTCCATGATGAGCAGAAGCGCCGGAACCTCAATGGAACACTTCATGAACTC
CTTAGAATGAACATTGTCCCCATTGTCAACACAAATGATGCTGTTGTCCCCCCAGCTGAGCCCAACAGTGACCTGCAGGGGGTTATTAGTGTTAAAGATAATGAT
AGCCTGGCTGCCCGACTGGCTGTGGAAATGAAAACTGATCTCTTGATTGTTCTTTCAGATGTAGAAGGCCTTTTTGACAGCCCCCCAGGTTCAGATGATGCAAAG
CTTATTGATATATTTTATCCCGGAGATCAGCAGTCTGTGACATTTGGAACCAAGTCTAGAGTGGGAATGGGTGGCATGGAAGCCAAGGTGAAAGCAGCCCTCTGG
GCTTTGCAAGGTGGCACTTCTGTTGTTATTGCCAATGGAACCCACCCAAAGGTGTCTGGGCACGTCATCACAGACATTGTGGAGGGGAAGAAAGTTGGTACCTTC
TTTTCAGAAGTAAAGCCTGCAGGCCCTACTGTTGAGCAGCAGGGAGAAATGGCGCGATCTGGAGGAAGGATGTTGGCCACCTTGGAACCTGAGCAGAGAGCAGAA
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>ALDH18A1|5832|protein
MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVL
QNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHEL
LRMNIVPIVNTNDAVVPPAEPNSDLQGVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTKSRVGMGGMEAKVKAALW
ALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAAPL
LKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIH
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top