AutismKB 2.0

Evidence Details for UMODL1


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Basic Information Top
Gene Symbol:UMODL1 ( - )
Gene Full Name: uromodulin-like 1
Band: 21q22.3
Quick LinksEntrez ID:89766; OMIM: NA; Uniprot ID:UROL1_HUMAN; ENSEMBL ID: ENSG00000177398; HGNC ID: 12560
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UMODL1|89766|nucleotide
ATGCTCAGGACCTCGGGGCTGGCACTGCTGGCTCTGGTCAGTGCTGTGGGCCCAAGCCAGGCCAGCGGCTTCACAGAAAAAGGCCTCTCCCTGTTGGGCTACCAG
CTATGCAGCCACCGTGTGACCCACACTGTACAGAAGGTGGAGGCCGTGCAGACGTCCTACACGTCCTATGTGTCCTGCGGCGGCTGGATCCCCTGGAGGCGGTGC
CCTAAGATGGTTTACCGGACACAGTACCTGGTAGTGGAGGTCCCCGAGTCCAGGAACGTGACTGACTGCTGTGAGGGCTATGAACAGCTCGGCCTCTACTGTGTC
TTGCCCCTGAATCAGTCCGGGCAGTTCACGTCAAGACCTGGGGCCTGCCCCGCAGAGGGGCCTGAACCATCCACCTCCCCCTGCAGCTTGGACATCGACTGTCCT
GGACTTGAGAAGTGCTGCCCCTGGTCAGGGGGGCGCTACTGCATGGCCCCTGCACCCCAAGCTCCAGAGAGGGACCCTGTGGGCTCCTGGTACAACGTCACCATA
CTGGTGAAAATGGACTTCAAGGAACTCCAGCAAGTGGACCCCAGGCTCCTGAACCACATGCGCCTTCTGCATTCCTTGGTCACCAGCGCCCTGCAACCAATGGCC
TCCACCGTCCACCACCTGCACTCAGCCCCTGGGAACGCCTCCACCACAGTGTCGCGGCTGCTACTGGGCCTGCCACGGCCACTGCCTGTGGCTGACGTCTCCACC
CTGCTGGGTGACATTGCGAAGCGTGTCTATGAAGTGATCAGCGTCCAGGTGCAAGATGTCAATGAGTGTTTCTATGAGGAGCTCAATGCCTGCTCTGGAAGGGAA
CTGTGCGCAAACCTGGAGGGCTCGTACTGGTGCGTCTGTCACCAGGAAGCTCCAGCCACGTCTCCACGGAAGCTGAACCTGGAGTGGGAAGATTGTCCTCCAGTC
AGTGACTACGTGGTCCTCAACGTCACCAGTGACAGTTTTCAAGTATCCTGGCGTTTAAATTCTACACAGAACCACACTTTCCATGTCCGGGTTTACCGGGGTATG
GAGTTGCTCAGGAGCGCCAGGACACAGAGCCAGGCACTGGCAGTGGCTGGGCTGGAGGCTGGAGTGCTGTACAGGGTGAAGACCAGCTACCAGGGGTGCGGGGCC
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>UMODL1|89766|protein
MLRTSGLALLALVSAVGPSQASGFTEKGLSLLGYQLCSHRVTHTVQKVEAVQTSYTSYVSCGGWIPWRRCPKMVYRTQYLVVEVPESRNVTDCCEGYEQLGLYCV
LPLNQSGQFTSRPGACPAEGPEPSTSPCSLDIDCPGLEKCCPWSGGRYCMAPAPQAPERDPVGSWYNVTILVKMDFKELQQVDPRLLNHMRLLHSLVTSALQPMA
STVHHLHSAPGNASTTVSRLLLGLPRPLPVADVSTLLGDIAKRVYEVISVQVQDVNECFYEELNACSGRELCANLEGSYWCVCHQEAPATSPRKLNLEWEDCPPV
SDYVVLNVTSDSFQVSWRLNSTQNHTFHVRVYRGMELLRSARTQSQALAVAGLEAGVLYRVKTSYQGCGADVSTTLTIKTNAQVFEVTIKIVNHNLTEKLLNRSS
VEYQDFSRQLLHEVESSFPPVVSDLYRSGKLRMQIVSLQAGSVVVRLKLTVQDPGFPMGISTLAPILQPLLASTVFQIDRQGTRVQDWDECVDSAEHDCSPAAWC
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top