Evidence Details for GTF2IRD1
Basic Information Top
| Gene Symbol: | GTF2IRD1 ( BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1 ) |
|---|---|
| Gene Full Name: | GTF2I repeat domain containing 1 |
| Band: | 7q11.23 |
| Quick Links | Entrez ID:9569; OMIM: 604318; Uniprot ID:GT2D1_HUMAN; ENSEMBL ID: ENSG00000006704; HGNC ID: 4661 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GTF2IRD1|9569|nucleotide
ATGGCCTTGCTGGGTAAGCGCTGTGACGTCCCCACCAACGGCTGCGGACCCGACCGCTGGAACTCCGCGTTCACCCGCAAAGACGAGATCATCACCAGCCTCGTG
TCTGCCTTAGACTCCATGTGCTCAGCGCTGTCCAAACTGAACGCCGAGGTGGCCTGTGTCGCCGTGCACGATGAGAGCGCCTTTGTGGTGGGCACAGAGAAGGGG
AGAATGTTCCTGAATGCCCGGAAGGAGCTACAGTCAGACTTCCTCAGGTTCTGCCTCTCCGCAGCTCAGCACAGGGCAGCGACATCCCAGCTCGAAGGCCGGGTG
GTGAGACGGGTGCTCACTGTGGCCTCGCGTGCTCTGTGTCCCACAGGAGGGCCCCCGTGGAAGGATCCGGAGGCAGAGCACCCCAAGAAGGTGCAGCGGGGCGAG
GGTGGAGGCCGTAGCCTCCCTCGGTCCTCCCTGGAACATGGCTCAGATGTGTACCTTCTGCGGAAGATGGTAGAGGAGGTGTTTGATGTTCTTTATAGCGAGGCC
CTGGGAAGGGCCAGTGTGGTGCCACTGCCCTATGAGAGGCTGCTCAGGGAGCCAGGGCTGCTGGCCGTGCAGGGGCTGCCCGAAGGCCTGGCCTTCCGAAGGCCA
GCCGAGTATGACCCCAAGGCCCTCATGGCCATCCTGGAACACAGCCACCGCATCCGCTTCAAGCTCAAGAGGCCACTTGAGGATGGCGGGCGGGACTCGAAGGCC
CTGGTGGAGCTGAACGGTGTCTCCCTGATTCCCAAGGGGTCACGGGACTGTGGCCTGCATGGCCAGGCCCCCAAGGTGCCACCCCAGGACCTGCCCCCAACCGCC
ACCTCCTCCTCCATGGCCAGCTTCCTGTACAGCACGGCGCTCCCCAACCACGCCATCCGAGAGCTCAAGCAGGAAGCACCTTCCTGCCCCCTTGCCCCCAGCGAC
CTGGGCCTGAGTCGGCCCATGCCAGAGCCCAAGGCCACCGGTGCCCAAGACTTCTCCGACTGTTGTGGACAGAAGCCCACTGGGCCTGGTGGGCCTCTCATCCAG
AACGTCCATGCCTCCAAGCGCATTCTCTTCTCCATCGTCCATGACAAGTCAGAGAAGTGGGACGCCTTCATAAAGGAAACCGAGGACATCAACACGCTCCGGGAG
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ATGGCCTTGCTGGGTAAGCGCTGTGACGTCCCCACCAACGGCTGCGGACCCGACCGCTGGAACTCCGCGTTCACCCGCAAAGACGAGATCATCACCAGCCTCGTG
TCTGCCTTAGACTCCATGTGCTCAGCGCTGTCCAAACTGAACGCCGAGGTGGCCTGTGTCGCCGTGCACGATGAGAGCGCCTTTGTGGTGGGCACAGAGAAGGGG
AGAATGTTCCTGAATGCCCGGAAGGAGCTACAGTCAGACTTCCTCAGGTTCTGCCTCTCCGCAGCTCAGCACAGGGCAGCGACATCCCAGCTCGAAGGCCGGGTG
GTGAGACGGGTGCTCACTGTGGCCTCGCGTGCTCTGTGTCCCACAGGAGGGCCCCCGTGGAAGGATCCGGAGGCAGAGCACCCCAAGAAGGTGCAGCGGGGCGAG
GGTGGAGGCCGTAGCCTCCCTCGGTCCTCCCTGGAACATGGCTCAGATGTGTACCTTCTGCGGAAGATGGTAGAGGAGGTGTTTGATGTTCTTTATAGCGAGGCC
CTGGGAAGGGCCAGTGTGGTGCCACTGCCCTATGAGAGGCTGCTCAGGGAGCCAGGGCTGCTGGCCGTGCAGGGGCTGCCCGAAGGCCTGGCCTTCCGAAGGCCA
GCCGAGTATGACCCCAAGGCCCTCATGGCCATCCTGGAACACAGCCACCGCATCCGCTTCAAGCTCAAGAGGCCACTTGAGGATGGCGGGCGGGACTCGAAGGCC
CTGGTGGAGCTGAACGGTGTCTCCCTGATTCCCAAGGGGTCACGGGACTGTGGCCTGCATGGCCAGGCCCCCAAGGTGCCACCCCAGGACCTGCCCCCAACCGCC
ACCTCCTCCTCCATGGCCAGCTTCCTGTACAGCACGGCGCTCCCCAACCACGCCATCCGAGAGCTCAAGCAGGAAGCACCTTCCTGCCCCCTTGCCCCCAGCGAC
CTGGGCCTGAGTCGGCCCATGCCAGAGCCCAAGGCCACCGGTGCCCAAGACTTCTCCGACTGTTGTGGACAGAAGCCCACTGGGCCTGGTGGGCCTCTCATCCAG
AACGTCCATGCCTCCAAGCGCATTCTCTTCTCCATCGTCCATGACAAGTCAGAGAAGTGGGACGCCTTCATAAAGGAAACCGAGGACATCAACACGCTCCGGGAG
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>GTF2IRD1|9569|protein
MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRV
VRRVLTVASRALCPTGGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRP
AEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSD
LGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVE
IVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRP
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MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDESAFVVGTEKGRMFLNARKELQSDFLRFCLSAAQHRAATSQLEGRV
VRRVLTVASRALCPTGGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRP
AEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSD
LGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVE
IVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRP
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Evidence summary TopClick 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) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Depienne, 2007 | France | STS mapping |  | | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders SJ, 2015 | - | - | - | - | ASD | 2591 | - | - | - | - | - | - |
Linkage Studies Top