AutismKB 2.0

Evidence Details for UBXN7


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Basic Information Top
Gene Symbol:UBXN7 ( KIAA0794,UBXD7 )
Gene Full Name: UBX domain protein 7
Band: 3q29
Quick LinksEntrez ID:26043; OMIM: NA; Uniprot ID:UBXN7_HUMAN; ENSEMBL ID: ENSG00000163960; HGNC ID: 29119
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBXN7|26043|nucleotide
ATGGCTGCCCACGGGGGCTCCGCGGCGTCCTCGGCGCTGAAGGGGTTAATTCAACAGTTCACCACCATTACCGGTGCAAGTGAAAGTGTAGGAAAACATATGCTT
GAAGCGTGCAACAATAATCTGGAAATGGCAGTCACTATGTTTTTGGATGGTGGAGGAATCGCTGAAGAGCCCAGTACCAGTTCAGCAAGTGTCTCTACTGTCAGA
CCACACACAGAAGAAGAAGTTCGTGCCCCAATTCCTCAAAAGCAGGAAATACTGGTGGAACCAGAACCATTATTTGGTGCTCCTAAAAGACGACGGCCTGCACGT
TCAATTTTTGATGGTTTCCGGGATTTTCAGACTGAAACTATTCGGCAAGAACAAGAATTAAGAAATGGAGGAGCTATCGATAAGAAATTAACTACCCTTGCAGAT
CTATTCCGGCCACCCATTGATTTGATGCATAAAGGCAGCTTTGAAACAGCCAAAGAGTGTGGCCAGATGCAAAATAAGTGGCTGATGATAAACATTCAAAATGTT
CAAGACTTTGCATGTCAGTGCCTCAACCGCGATGTGTGGAGCAACGAAGCTGTGAAGAATATTATCCGGGAACATTTCATTTTCTGGCAGGTTTATCATGACAGT
GAGGAAGGTCAGAGATACATACAGTTTTATAAGTTAGGGGATTTCCCCTATGTTTCCATATTGGACCCACGGACAGGTCAGAAGCTAGTAGAATGGCACCAGTTA
GATGTATCTTCTTTCTTGGACCAAGTGACGGGATTTCTGGGTGAACATGGACAACTGGATGGACTTTCTAGCAGTCCCCCCAAAAAATGTGCCCGTTCAGAGAGC
CTTATAGATGCAAGTGAAGACAGCCAGCTAGAAGCTGCCATCAGAGCCTCCTTACAAGAAACACATTTTGATTCAACACAGACAAAACAGGATAGCCGCTCAGAT
GAAGAATCTGAATCTGAACTTTTTTCTGGCAGTGAGGAGTTCATATCCGTTTGTGGCTCTGATGAAGAAGAAGAGGTAGAGAATCTTGCCAAGTCCAGAAAGTCT
CCCCACAAAGATTTGGGGCATAGAAAAGAGGAGAATAGAAGGCCGCTGACTGAGCCACCAGTCAGAACTGATCCTGGAACAGCCACAAACCACCAAGGATTGCCA
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>UBXN7|26043|protein
MAAHGGSAASSALKGLIQQFTTITGASESVGKHMLEACNNNLEMAVTMFLDGGGIAEEPSTSSASVSTVRPHTEEEVRAPIPQKQEILVEPEPLFGAPKRRRPAR
SIFDGFRDFQTETIRQEQELRNGGAIDKKLTTLADLFRPPIDLMHKGSFETAKECGQMQNKWLMINIQNVQDFACQCLNRDVWSNEAVKNIIREHFIFWQVYHDS
EEGQRYIQFYKLGDFPYVSILDPRTGQKLVEWHQLDVSSFLDQVTGFLGEHGQLDGLSSSPPKKCARSESLIDASEDSQLEAAIRASLQETHFDSTQTKQDSRSD
EESESELFSGSEEFISVCGSDEEEEVENLAKSRKSPHKDLGHRKEENRRPLTEPPVRTDPGTATNHQGLPAVDSEILEMPPEKADGVVEGIDVNGPKAQLMLRYP
DGKREQITLPEQAKLLALVKHVQSKGYPNERFELLTNFPRRKLSHLDYDITLQEAGLCPQETVFVQERN
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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) 1 (4) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (6)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Cox DM, 2015 - FISH--autism - - - - 1 - 1
Linkage Studies Top