Evidence Details for IQUB
Basic Information Top
Gene Symbol: | IQUB ( FLJ35834,MGC149284,MGC149285 ) |
---|---|
Gene Full Name: | IQ motif and ubiquitin domain containing |
Band: | 7q31.32 |
Quick Links | Entrez ID:154865; OMIM: NA; Uniprot ID:IQUB_HUMAN; ENSEMBL ID: ENSG00000164675; HGNC ID: 21995 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>IQUB|154865|nucleotide
ATGTCTAATCAACAGGAGAAGTATGAAGCTCAGAATATAGTCAATTCAACAGAAGAGAGTGATGATGCTTTTGATACTGTCACTATTCCAGTTCCCTCAGAAGAG
CCTCAAGAGTCAGATCAAACTGAAGAGCATGAATCTGGAATAGAACAATTCAGTGAGAGCCATGCAATACATGTTGAGGAGCAGAGTGACCAAAGCTTTTCAAGC
CTGGAACCAGACAATGAACAACTCATGGAAGAGGTTATATCACCAAGACAAGTTTCATATACTCCGCAACATCATGAAAAGCAATATGCAATGCAGAGGCCAAAT
GATGATAGTTTGGCATTTCTGGATAAAATAAAGTCTGTAAAGGAATCTTTGCAAGAATCAGTGGAAGATTCTCTAGCAACAGTAAAAGTTGTACTTATTCCAGTG
GGCCAGGAAATTGTAATACCTTTTAAGGTTGATACCATTCTTAAATATCTTAAGGACCATTTTTCACACTTATTAGGTATCCCACATTCTGTACTGCAGATAAGA
TACTCAGGAAAAATTCTTAAAAATAATGAGACTCTAGTACAACATGGAGTTAAGCCACAGGAAATTGTACAAGTGGAAATCTTTTCTACAAATCCAGATCTGTAT
CCAGTCAGAAGAATAGATGGATTAACTGATGTCTCTCAAATCATAACTGTCACTGTCCAAACTGGACTTGATCAATACCAGCAGGTACCTGTTGAGATTGTCAAA
TCTGACTTTCACAAACCATTTCTTGGTGGATTCAGACATAAAGTAACAGGAGTAGAGTATCACAATGCTGGAACACAAACTGTACCTAAAAGGATTCCCGAAAGA
CTCAGTATATTTTGTAGGGATACGCAGACAGTTTTTCAGAAAAAAAATCTCCAACAAACTACAAATACAACATCCACACAGATGACTAACATTGGTGTATATGTA
TCAAATATGACTGATAAACTGGTAACACCAGGAAAGTATTTTTCAGCAGCAGAATACCATGCTCAAAGACTAAAGGCGGTGATAGTGATACAGACTTACTACAGG
CAATGGCATGCTAAAATCTTCGTAGAGAATTTAAGAAGACAGAAAAGCTTAAGACTGGAATGGGAAACACAGCAAGAACTAAGGAAGATAAGAGAAAAAGAAGAA
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ATGTCTAATCAACAGGAGAAGTATGAAGCTCAGAATATAGTCAATTCAACAGAAGAGAGTGATGATGCTTTTGATACTGTCACTATTCCAGTTCCCTCAGAAGAG
CCTCAAGAGTCAGATCAAACTGAAGAGCATGAATCTGGAATAGAACAATTCAGTGAGAGCCATGCAATACATGTTGAGGAGCAGAGTGACCAAAGCTTTTCAAGC
CTGGAACCAGACAATGAACAACTCATGGAAGAGGTTATATCACCAAGACAAGTTTCATATACTCCGCAACATCATGAAAAGCAATATGCAATGCAGAGGCCAAAT
GATGATAGTTTGGCATTTCTGGATAAAATAAAGTCTGTAAAGGAATCTTTGCAAGAATCAGTGGAAGATTCTCTAGCAACAGTAAAAGTTGTACTTATTCCAGTG
GGCCAGGAAATTGTAATACCTTTTAAGGTTGATACCATTCTTAAATATCTTAAGGACCATTTTTCACACTTATTAGGTATCCCACATTCTGTACTGCAGATAAGA
TACTCAGGAAAAATTCTTAAAAATAATGAGACTCTAGTACAACATGGAGTTAAGCCACAGGAAATTGTACAAGTGGAAATCTTTTCTACAAATCCAGATCTGTAT
CCAGTCAGAAGAATAGATGGATTAACTGATGTCTCTCAAATCATAACTGTCACTGTCCAAACTGGACTTGATCAATACCAGCAGGTACCTGTTGAGATTGTCAAA
TCTGACTTTCACAAACCATTTCTTGGTGGATTCAGACATAAAGTAACAGGAGTAGAGTATCACAATGCTGGAACACAAACTGTACCTAAAAGGATTCCCGAAAGA
CTCAGTATATTTTGTAGGGATACGCAGACAGTTTTTCAGAAAAAAAATCTCCAACAAACTACAAATACAACATCCACACAGATGACTAACATTGGTGTATATGTA
TCAAATATGACTGATAAACTGGTAACACCAGGAAAGTATTTTTCAGCAGCAGAATACCATGCTCAAAGACTAAAGGCGGTGATAGTGATACAGACTTACTACAGG
CAATGGCATGCTAAAATCTTCGTAGAGAATTTAAGAAGACAGAAAAGCTTAAGACTGGAATGGGAAACACAGCAAGAACTAAGGAAGATAAGAGAAAAAGAAGAA
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>IQUB|154865|protein
MSNQQEKYEAQNIVNSTEESDDAFDTVTIPVPSEEPQESDQTEEHESGIEQFSESHAIHVEEQSDQSFSSLEPDNEQLMEEVISPRQVSYTPQHHEKQYAMQRPN
DDSLAFLDKIKSVKESLQESVEDSLATVKVVLIPVGQEIVIPFKVDTILKYLKDHFSHLLGIPHSVLQIRYSGKILKNNETLVQHGVKPQEIVQVEIFSTNPDLY
PVRRIDGLTDVSQIITVTVQTGLDQYQQVPVEIVKSDFHKPFLGGFRHKVTGVEYHNAGTQTVPKRIPERLSIFCRDTQTVFQKKNLQQTTNTTSTQMTNIGVYV
SNMTDKLVTPGKYFSAAEYHAQRLKAVIVIQTYYRQWHAKIFVENLRRQKSLRLEWETQQELRKIREKEEWIKLDYHRRHNPKTNEDFEFLYNALEFWRQEELTR
INQSFTGAERKAALCELLEKETQIIASIGRHRYIAYMANQEAAIQAFLDKCSAPKIWRTPNGKTIEMDTQFTIRARELQNIYKCIMLKNISQDERLDVLLTLKHT
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MSNQQEKYEAQNIVNSTEESDDAFDTVTIPVPSEEPQESDQTEEHESGIEQFSESHAIHVEEQSDQSFSSLEPDNEQLMEEVISPRQVSYTPQHHEKQYAMQRPN
DDSLAFLDKIKSVKESLQESVEDSLATVKVVLIPVGQEIVIPFKVDTILKYLKDHFSHLLGIPHSVLQIRYSGKILKNNETLVQHGVKPQEIVQVEIFSTNPDLY
PVRRIDGLTDVSQIITVTVQTGLDQYQQVPVEIVKSDFHKPFLGGFRHKVTGVEYHNAGTQTVPKRIPERLSIFCRDTQTVFQKKNLQQTTNTTSTQMTNIGVYV
SNMTDKLVTPGKYFSAAEYHAQRLKAVIVIQTYYRQWHAKIFVENLRRQKSLRLEWETQQELRKIREKEEWIKLDYHRRHNPKTNEDFEFLYNALEFWRQEELTR
INQSFTGAERKAALCELLEKETQIIASIGRHRYIAYMANQEAAIQAFLDKCSAPKIWRTPNGKTIEMDTQFTIRARELQNIYKCIMLKNISQDERLDVLLTLKHT
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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 (4) | 1 (1) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 22 (7) |
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 | ||||||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 | ||
Okamoto, 2011 | Japan | - | ASD | - | - | - | - | 1 | - | 1 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2010 | USA | SNP-based genomic screen | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
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 |
Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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