Evidence Details for TFIP11
Basic Information Top
Gene Symbol: | TFIP11 ( FLJ22086,NTR1,Spp382,TIP39,bK445C9.6,hNtr1 ) |
---|---|
Gene Full Name: | tuftelin interacting protein 11 |
Band: | 22q12.1 |
Quick Links | Entrez ID:24144; OMIM: 612747; Uniprot ID:TFP11_HUMAN; ENSEMBL ID: ENSG00000100109; HGNC ID: 17165 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TFIP11|24144|nucleotide
ATGTCATTGTCCCACTTATACCGGGATGGGGAAGGCCGCATTGATGATGATGATGACGAGCGGGAGAACTTTGAGATCACTGACTGGGATCTCCAGAATGAGTTC
AACCCCAACCGACAGCGCCACTGGCAGACCAAGGAAGAAGCCACCTACGGGGTGTGGGCAGAGCGAGACTCGGATGATGAGAGGCCCAGCTTTGGAGGCAAACGG
GCCCGTGACTACTCTGCGCCAGTCAACTTCATCAGCGCAGGGCTCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAAACCTGTT
AAGCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAATTTTAAGCCCAGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTCATG
GACTTCGGCAGCTGGGAAAGACACACAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGGCCTCGGGAAGAATGCACAAGGTATC
ATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGTGCTGTGGGGGCTTATGGATCCGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACTCA
GAGGAAGAAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGGAAGCAAGAAGAAGCCCAAATACTCTTACAAGACCGTGGAAGAG
TTGAAGGCCAAGGGCAGGATTAGCAAGAAGCTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCCGGGAGCAGAAGGTCTACTAC
AGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGGGCTGCCGCTACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTC
GCGCTGCCCGAGCTGGAGCACAACCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGAATGACCGGCAGCTACAGTATGAGCGGGACATGGTGGTC
AACCTCTTCCACGAGCTGGAGAAGATGACCGAGGTCCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTGGAGGAGTGCGAGCGG
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ATGTCATTGTCCCACTTATACCGGGATGGGGAAGGCCGCATTGATGATGATGATGACGAGCGGGAGAACTTTGAGATCACTGACTGGGATCTCCAGAATGAGTTC
AACCCCAACCGACAGCGCCACTGGCAGACCAAGGAAGAAGCCACCTACGGGGTGTGGGCAGAGCGAGACTCGGATGATGAGAGGCCCAGCTTTGGAGGCAAACGG
GCCCGTGACTACTCTGCGCCAGTCAACTTCATCAGCGCAGGGCTCAAGAAAGGGGCAGCGGAGGAGGCAGAGTTGGAAGATTCTGATGACGAAGAGAAACCTGTT
AAGCAGGACGACTTTCCTAAGGATTTTGGACCAAGGAAGCTAAAAACGGGTGGCAATTTTAAGCCCAGCCAGAAAGGTTTTGCAGGAGGAACCAAATCTTTCATG
GACTTCGGCAGCTGGGAAAGACACACAAAAGGAATTGGACAGAAGCTTCTTCAGAAGATGGGCTACGTCCCTGGACGGGGCCTCGGGAAGAATGCACAAGGTATC
ATTAACCCAATTGAAGCCAAGCAGAGAAAGGGAAAAGGTGCTGTGGGGGCTTATGGATCCGAGCGCACCACTCAGTCCATGCAAGACTTCCCTGTGGTTGACTCA
GAGGAAGAAGCTGAAGAGGAGTTTCAGAAGGAGCTGAGCCAGTGGAGGAAAGACCCAAGTGGAAGCAAGAAGAAGCCCAAATACTCTTACAAGACCGTGGAAGAG
TTGAAGGCCAAGGGCAGGATTAGCAAGAAGCTCACTGCTCCCCAGAAGGAACTTTCTCAAGTCAAGGTCATAGACATGACAGGCCGGGAGCAGAAGGTCTACTAC
AGCTACAGTCAGATCAGCCACAAGCACAACGTTCCCGATGATGGGCTGCCGCTACAGTCCCAACAGCTGCCACAGTCTGGCAAAGAGGCCAAGGCCCCCGGCTTC
GCGCTGCCCGAGCTGGAGCACAACCTGCAGCTGCTCATCGACCTCACGGAGCAGGAGATCATCCAGAATGACCGGCAGCTACAGTATGAGCGGGACATGGTGGTC
AACCTCTTCCACGAGCTGGAGAAGATGACCGAGGTCCTGGACCACGAGGAGCGGGTCATCTCGAACCTCAGCAAGGTCCTGGAGATGGTGGAGGAGTGCGAGCGG
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>TFIP11|24144|protein
MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERPSFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPV
KQDDFPKDFGPRKLKTGGNFKPSQKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGAYGSERTTQSMQDFPVVDS
EEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKLTAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGF
ALPELEHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECERRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDR
VDLAVAIVYPLMKEYFKEWDPLKDCTYGTEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWVHIIPVWILDNILD
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MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERPSFGGKRARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPV
KQDDFPKDFGPRKLKTGGNFKPSQKGFAGGTKSFMDFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGAYGSERTTQSMQDFPVVDS
EEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKLTAPQKELSQVKVIDMTGREQKVYYSYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGF
ALPELEHNLQLLIDLTEQEIIQNDRQLQYERDMVVNLFHELEKMTEVLDHEERVISNLSKVLEMVEECERRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDR
VDLAVAIVYPLMKEYFKEWDPLKDCTYGTEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVRNIVTQWQPRNCDPMVDFLDSWVHIIPVWILDNILD
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Low Scale Gene Studies Top
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