AutismKB 2.0

Evidence Details for GALM


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Basic Information Top
Gene Symbol:GALM ( IBD1 )
Gene Full Name: galactose mutarotase (aldose 1-epimerase)
Band: 2p22.1
Quick LinksEntrez ID:130589; OMIM: 608883; Uniprot ID:GALM_HUMAN; ENSEMBL ID: ENSG00000143891; HGNC ID: 24063
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GALM|130589|nucleotide
ATGGCTTCGGTGACCAGGGCCGTGTTTGGAGAGCTGCCCTCGGGAGGAGGGACAGTGGAGAAGTTCCAGCTGCAGTCAGACCTCTTGAGAGTGGACATCATCTCC
TGGGGCTGCACGATCACAGCCCTAGAGGTCAAAGACAGGCAGGGGAGAGCCTCGGACGTGGTGCTTGGCTTCGCCGAGTTGGAAGGATACCTCCAAAAGCAGCCA
TACTTTGGAGCAGTTATTGGGAGGGTGGCCAACCGAATCGCCAAAGGAACCTTCAAGGTGGATGGGAAGGAGTATCACCTGGCCATTAACAAGGAACCCAACAGT
CTGCATGGAGGAGTCAGAGGGTTTGATAAAGTGCTCTGGACCCCTCGGGTGCTGTCAAATGGCGTCCAGTTCTCGCGCATCAGTCCAGATGGTGAAGAAGGCTAC
CCCGGAGAGTTAAAAGTCTGGGTGACATACACCCTGGATGGCGGAGAGCTCATAGTCAACTACAGAGCACAAGCCAGTCAGGCCACACCAGTCAACCTGACCAAC
CATTCTTACTTCAACCTGGCAGGCCAGGCTTCCCCAAATATAAATGACCATGAAGTCACCATAGAAGCGGATACTTATTTGCCTGTGGATGAAACCCTGATTCCT
ACAGGAGAAGTTGCCCCAGTGCAAGGCACTGCATTCGACCTGAGAAAGCCAGTGGAGCTTGGAAAACACCTGCAGGACTTCCATCTCAATGGTTTTGACCACAAT
TTCTGTCTGAAGGGATCTAAAGAAAAGCATTTTTGTGCAAGGGTGCATCATGCTGCAAGCGGGCGGGTACTAGAAGTATACACCACCCAGCCCGGGGTCCAGTTT
TACACGGGCAACTTCCTGGATGGCACATTAAAGGGCAAGAATGGAGCTGTCTATCCCAAGCACTCCGGTTTCTGCCTGGAGACTCAGAACTGGCCTGATGCAGTC
AATCAGCCCCGCTTCCCTCCTGTGCTGCTGAGGCCTGGTGAGGAGTATGACCACACCACCTGGTTCAAGTTTTCTGTGGCTTAA

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>GALM|130589|protein
MASVTRAVFGELPSGGGTVEKFQLQSDLLRVDIISWGCTITALEVKDRQGRASDVVLGFAELEGYLQKQPYFGAVIGRVANRIAKGTFKVDGKEYHLAINKEPNS
LHGGVRGFDKVLWTPRVLSNGVQFSRISPDGEEGYPGELKVWVTYTLDGGELIVNYRAQASQATPVNLTNHSYFNLAGQASPNINDHEVTIEADTYLPVDETLIP
TGEVAPVQGTAFDLRKPVELGKHLQDFHLNGFDHNFCLKGSKEKHFCARVHHAASGRVLEVYTTQPGVQFYTGNFLDGTLKGKNGAVYPKHSGFCLETQNWPDAV
NQPRFPPVLLRPGEEYDHTTWFKFSVA

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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 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top