AutismKB 2.0

Evidence Details for ALDH1L1


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Basic Information Top
Gene Symbol:ALDH1L1 ( 10-fTHF,DKFZp781N0997,FTHFD )
Gene Full Name: aldehyde dehydrogenase 1 family, member L1
Band: 3q21.3
Quick LinksEntrez ID:10840; OMIM: 600249; Uniprot ID:FTHFD_HUMAN; ENSEMBL ID: ENSG00000144908; HGNC ID: 3978
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALDH1L1|10840|nucleotide
ATGAAGATTGCAGTGATTGGACAGAGCCTGTTTGGCCAGGAAGTTTACTGCCACCTGAGGAAGGAGGGCCACGAAGTGGTGGGTGTGTTCACTGTTCCAGACAAG
GATGGAAAGGCCGACCCCCTGGGTCTGGAAGCTGAGAAGGATGGAGTGCCGGTATTCAAGTACTCCCGGTGGCGTGCAAAAGGACAGGCTTTGCCTGATGTGGTG
GCAAAATACCAGGCTTTGGGGGCCGAGCTCAACGTCCTGCCCTTCTGCAGCCAATTCATCCCCATGGAGATAATCAGTGCCCCCCGGCATGGCTCCATCATCTAT
CACCCGTCACTGCTCCCTAGGCACCGAGGGGCCTCGGCCATCAACTGGACCCTCATTCACGGAGATAAGAAAGGGGGGTTTTCCATCTTCTGGGCGGATGATGGT
CTGGACACCGGAGACCTGCTGCTGCAGAAGGAGTGTGAGGTGCTCCCGGACGACACCGTGAGCACGCTGTACAACCGCTTCCTCTTCCCTGAAGGCATCAAAGGG
ATGGTGCAGGCCGTGAGGCTGATCGCTGAGGGCAAAGCCCCCAGACTCCCTCAGCCTGAGGAAGGAGCCACCTATGAGGGGATTCAGAAGAAGGAGACAGCCAAG
ATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGAAACTGACATTTTTC
AACTCAACGCTGAACACTTCAGGCCTGGTGCCCGAGGGAGACGCTTTGCCCATCCCAGGAGCCCATCGGCCAGGGGTGGTCACCAAAGCAGGACTCATCCTCTTT
GGGAATGATGACAAAATGCTGCTGGTGAAGAATATTCAGCTGGAGGATGGCAAAATGATCCTGGCCTCGAACTTCTTTAAGGGGGCAGCCAGCAGTGTCCTTGAG
CTGACAGAGGCAGAGCTGGTTACTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCCAAAGTCCTGGAGGTTGAAGACTCCACTGATTTCTTCAAGTCA
GGGGCCGCGTCTGTGGACGTTGTGAGGCTGGTGGAGGAAGTGAAGGAGCTGTGTGATGGCCTGGAGTTAGAAAATGAAGATGTGTACATGGCATCCACCTTTGGG
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>ALDH1L1|10840|protein
MKIAVIGQSLFGQEVYCHLRKEGHEVVGVFTVPDKDGKADPLGLEAEKDGVPVFKYSRWRAKGQALPDVVAKYQALGAELNVLPFCSQFIPMEIISAPRHGSIIY
HPSLLPRHRGASAINWTLIHGDKKGGFSIFWADDGLDTGDLLLQKECEVLPDDTVSTLYNRFLFPEGIKGMVQAVRLIAEGKAPRLPQPEEGATYEGIQKKETAK
INWDQPAEAIHNWIRGNDKVPGAWTEACEQKLTFFNSTLNTSGLVPEGDALPIPGAHRPGVVTKAGLILFGNDDKMLLVKNIQLEDGKMILASNFFKGAASSVLE
LTEAELVTAEAVRSVWQRILPKVLEVEDSTDFFKSGAASVDVVRLVEEVKELCDGLELENEDVYMASTFGDFIQLLVRKLRGDDEEGECSIDYVEMAVNKRTVRM
PHQLFIGGEFVDAEGAKTSETINPTDGSVICQVSLAQVTDVDKAVAAAKDAFENGRWGKISARDRGRLMYRLADLMEQHQEELATIEALDAGAVYTLALKTHVGM
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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