Evidence Details for UEVLD
Basic Information Top
Gene Symbol: | UEVLD ( ATTP,FLJ11068,UEV3 ) |
---|---|
Gene Full Name: | UEV and lactate/malate dehyrogenase domains |
Band: | 11p15.1 |
Quick Links | Entrez ID:55293; OMIM: 610985; Uniprot ID:UEVLD_HUMAN; ENSEMBL ID: ENSG00000151116; HGNC ID: 30866 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>UEVLD|55293|nucleotide
ATGGAGTTCGACTGCGAGGGCCTGAGACGGCTGCTTGGCAAGTACAAGTTCAGGGACCTAACTGTGGAAGAACTAAGGAATGTAAATGTATTTTTCCCACATTTC
AAATATTCCATGGACACCTATGTTTTTAAAGATAGTTCTCAGAAAGACCTGCTGAATTTTACTGGCACAATTCCTGTGATGTATCAGGGTAATACATATAACATA
CCAATTCGTTTCTGGATTTTGGATTCTCACCCTTTCGCTCCCCCTATTTGCTTCTTGAAGCCAACTGCAAATATGGGAATCTTAGTCGGAAAACATGTGGATGCT
CAAGGCAGAATATATTTGCCCTATCTCCAAAACTGGAGCCATCCTAAATCTGTCATTGTTGGATTAATTAAAGAAATGATTGCCAAGTTTCAAGAGGAACTTCCC
ATGTATTCTCTATCATCATCTGATGAGGCACGGCAGGTAGACTTGCTAGCCTATATTGCAAAAATCACTGAAGGTGTTTCAGATACAAATTCAAAGAGCTGGGCA
AATCATGAGAATAAAACAGTCAATAAAATTACTGTGGTTGGAGGTGGAGAACTCGGTATTGCCTGCACATTAGCAATTTCAGCAAAGGGTATTGCAGACAGGCTT
GTCCTCTTAGACCTCTCAGAAGGGACTAAAGGAGCCACGATGGACCTTGAAATCTTCAACCTTCCTAATGTGGAGATCAGCAAAGATTTGTCTGCCTCTGCTCAT
TCCAAGGTGGTGATCTTCACAGTCAACTCTTTGGGTAGTTCTCAGTCGTACCTTGATGTGGTACAGAGCAATGTGGATATGTTCAGAGCCCTTGTCCCAGCTCTG
GGACATTATAGTCAACACAGTGTCCTGCTCGTTGCATCTCAACCAGTGGAAATCATGACCTATGTAACATGGAAACTGAGTACATTTCCTGCAAATCGAGTGATC
GGAATTGGATGTAATCTGGATTCACAGAGATTACAGTATATTATTACAAATGTTTTGAAGGCACAGACTTCAGGCAAAGAAGTATGGGTTATTGGCGAGCAAGGA
GAAGACAAAGTGCTCACATGGAGTGGCCAAGAAGAAGTAGTGAGTCATACCTCTCAAGTGCAGCTGTCCAACAGAGCCATGGAACTGCTAAGAGTAAAAGGTCAA
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ATGGAGTTCGACTGCGAGGGCCTGAGACGGCTGCTTGGCAAGTACAAGTTCAGGGACCTAACTGTGGAAGAACTAAGGAATGTAAATGTATTTTTCCCACATTTC
AAATATTCCATGGACACCTATGTTTTTAAAGATAGTTCTCAGAAAGACCTGCTGAATTTTACTGGCACAATTCCTGTGATGTATCAGGGTAATACATATAACATA
CCAATTCGTTTCTGGATTTTGGATTCTCACCCTTTCGCTCCCCCTATTTGCTTCTTGAAGCCAACTGCAAATATGGGAATCTTAGTCGGAAAACATGTGGATGCT
CAAGGCAGAATATATTTGCCCTATCTCCAAAACTGGAGCCATCCTAAATCTGTCATTGTTGGATTAATTAAAGAAATGATTGCCAAGTTTCAAGAGGAACTTCCC
ATGTATTCTCTATCATCATCTGATGAGGCACGGCAGGTAGACTTGCTAGCCTATATTGCAAAAATCACTGAAGGTGTTTCAGATACAAATTCAAAGAGCTGGGCA
AATCATGAGAATAAAACAGTCAATAAAATTACTGTGGTTGGAGGTGGAGAACTCGGTATTGCCTGCACATTAGCAATTTCAGCAAAGGGTATTGCAGACAGGCTT
GTCCTCTTAGACCTCTCAGAAGGGACTAAAGGAGCCACGATGGACCTTGAAATCTTCAACCTTCCTAATGTGGAGATCAGCAAAGATTTGTCTGCCTCTGCTCAT
TCCAAGGTGGTGATCTTCACAGTCAACTCTTTGGGTAGTTCTCAGTCGTACCTTGATGTGGTACAGAGCAATGTGGATATGTTCAGAGCCCTTGTCCCAGCTCTG
GGACATTATAGTCAACACAGTGTCCTGCTCGTTGCATCTCAACCAGTGGAAATCATGACCTATGTAACATGGAAACTGAGTACATTTCCTGCAAATCGAGTGATC
GGAATTGGATGTAATCTGGATTCACAGAGATTACAGTATATTATTACAAATGTTTTGAAGGCACAGACTTCAGGCAAAGAAGTATGGGTTATTGGCGAGCAAGGA
GAAGACAAAGTGCTCACATGGAGTGGCCAAGAAGAAGTAGTGAGTCATACCTCTCAAGTGCAGCTGTCCAACAGAGCCATGGAACTGCTAAGAGTAAAAGGTCAA
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>UEVLD|55293|protein
MEFDCEGLRRLLGKYKFRDLTVEELRNVNVFFPHFKYSMDTYVFKDSSQKDLLNFTGTIPVMYQGNTYNIPIRFWILDSHPFAPPICFLKPTANMGILVGKHVDA
QGRIYLPYLQNWSHPKSVIVGLIKEMIAKFQEELPMYSLSSSDEARQVDLLAYIAKITEGVSDTNSKSWANHENKTVNKITVVGGGELGIACTLAISAKGIADRL
VLLDLSEGTKGATMDLEIFNLPNVEISKDLSASAHSKVVIFTVNSLGSSQSYLDVVQSNVDMFRALVPALGHYSQHSVLLVASQPVEIMTYVTWKLSTFPANRVI
GIGCNLDSQRLQYIITNVLKAQTSGKEVWVIGEQGEDKVLTWSGQEEVVSHTSQVQLSNRAMELLRVKGQRSWSVGLSVADMVDSIVNNKKKVHSVSALAKGYYD
INSEVFLSLPCILGTNGVSEVIKTTLKEDTVTEKLQSSASSIHSLQQQLKL
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MEFDCEGLRRLLGKYKFRDLTVEELRNVNVFFPHFKYSMDTYVFKDSSQKDLLNFTGTIPVMYQGNTYNIPIRFWILDSHPFAPPICFLKPTANMGILVGKHVDA
QGRIYLPYLQNWSHPKSVIVGLIKEMIAKFQEELPMYSLSSSDEARQVDLLAYIAKITEGVSDTNSKSWANHENKTVNKITVVGGGELGIACTLAISAKGIADRL
VLLDLSEGTKGATMDLEIFNLPNVEISKDLSASAHSKVVIFTVNSLGSSQSYLDVVQSNVDMFRALVPALGHYSQHSVLLVASQPVEIMTYVTWKLSTFPANRVI
GIGCNLDSQRLQYIITNVLKAQTSGKEVWVIGEQGEDKVLTWSGQEEVVSHTSQVQLSNRAMELLRVKGQRSWSVGLSVADMVDSIVNNKKKVHSVSALAKGYYD
INSEVFLSLPCILGTNGVSEVIKTTLKEDTVTEKLQSSASSIHSLQQQLKL
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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 | ||||||
Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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