Evidence Details for TWF2
Basic Information Top
| Gene Symbol: | TWF2 ( A6RP,A6r,PTK9L ) |
|---|---|
| Gene Full Name: | twinfilin, actin-binding protein, homolog 2 (Drosophila) |
| Band: | 3p21.2 |
| Quick Links | Entrez ID:11344; OMIM: 607433; Uniprot ID:TWF2_HUMAN; ENSEMBL ID: ENSG00000173366,ENSG00000247596; HGNC ID: 9621 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TWF2|11344|nucleotide
ATGGCGCACCAAACGGGCATCCACGCCACGGAAGAGCTGAAGGAATTCTTTGCCAAGGCACGGGCTGGCTCTGTGCGGCTCATCAAGGTTGTGATTGAGGACGAG
CAGCTCGTGCTGGGTGCCTCGCAGGAGCCAGTAGGCCGCTGGGATCAGGACTATGACAGGGCCGTGCTGCCACTGCTGGACGCCCAGCAGCCCTGCTACCTGCTC
TACCGCCTCGACTCACAGAATGCTCAGGGCTTCGAATGGCTCTTCCTCGCCTGGTCGCCTGATAACTCCCCCGTGCGGCTGAAGATGCTGTACGCGGCCACGCGG
GCCACAGTGAAAAAGGAGTTTGGAGGTGGCCACATCAAGGATGAGCTCTTCGGGACTGTGAAGGATGACCTCTCTTTTGCTGGGTACCAGAAACACCTGTCGTCC
TGTGCGGCACCTGCCCCGCTGACCTCGGCTGAGAGAGAGCTCCAGCAGATCCGCATTAACGAGGTGAAGACAGAGATCAGTGTGGAAAGCAAGCACCAGACCCTG
CAGGGCCTCGCCTTCCCCCTGCAGCCTGAGGCCCAGCGGGCACTCCAGCAGCTCAAGCAGAAAATGGTCAACTACATCCAGATGAAGCTGGACCTAGAGCGGGAA
ACCATTGAGCTGGTGCACACAGAGCCCACGGATGTGGCCCAGCTGCCCTCCCGGGTGCCCCGAGATGCTGCCCGCTACCACTTCTTCCTCTACAAGCACACCCAT
GAGGGCGACCCCCTTGAGTCTGTAGTGTTCATCTACTCCATGCCGGGGTACAAGTGCAGCATCAAGGAGCGAATGCTCTACTCCAGCTGCAAGAGCCGCCTCCTC
GACTCCGTGGAGCAGGACTTCCATCTGGAGATCGCCAAGAAAATTGAGATTGGCGATGGGGCAGAGCTGACGGCAGAGTTCCTCTACGACGAGGTGCACCCCAAG
CAACACGCCTTCAAGCAGGCCTTCGCCAAGCCCAAGGGCCCAGGGGGCAAGCGGGGCCATAAGCGCCTCATCCGCGGCCCGGGTGAAAATGGGGATGACAGCTAG
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ATGGCGCACCAAACGGGCATCCACGCCACGGAAGAGCTGAAGGAATTCTTTGCCAAGGCACGGGCTGGCTCTGTGCGGCTCATCAAGGTTGTGATTGAGGACGAG
CAGCTCGTGCTGGGTGCCTCGCAGGAGCCAGTAGGCCGCTGGGATCAGGACTATGACAGGGCCGTGCTGCCACTGCTGGACGCCCAGCAGCCCTGCTACCTGCTC
TACCGCCTCGACTCACAGAATGCTCAGGGCTTCGAATGGCTCTTCCTCGCCTGGTCGCCTGATAACTCCCCCGTGCGGCTGAAGATGCTGTACGCGGCCACGCGG
GCCACAGTGAAAAAGGAGTTTGGAGGTGGCCACATCAAGGATGAGCTCTTCGGGACTGTGAAGGATGACCTCTCTTTTGCTGGGTACCAGAAACACCTGTCGTCC
TGTGCGGCACCTGCCCCGCTGACCTCGGCTGAGAGAGAGCTCCAGCAGATCCGCATTAACGAGGTGAAGACAGAGATCAGTGTGGAAAGCAAGCACCAGACCCTG
CAGGGCCTCGCCTTCCCCCTGCAGCCTGAGGCCCAGCGGGCACTCCAGCAGCTCAAGCAGAAAATGGTCAACTACATCCAGATGAAGCTGGACCTAGAGCGGGAA
ACCATTGAGCTGGTGCACACAGAGCCCACGGATGTGGCCCAGCTGCCCTCCCGGGTGCCCCGAGATGCTGCCCGCTACCACTTCTTCCTCTACAAGCACACCCAT
GAGGGCGACCCCCTTGAGTCTGTAGTGTTCATCTACTCCATGCCGGGGTACAAGTGCAGCATCAAGGAGCGAATGCTCTACTCCAGCTGCAAGAGCCGCCTCCTC
GACTCCGTGGAGCAGGACTTCCATCTGGAGATCGCCAAGAAAATTGAGATTGGCGATGGGGCAGAGCTGACGGCAGAGTTCCTCTACGACGAGGTGCACCCCAAG
CAACACGCCTTCAAGCAGGCCTTCGCCAAGCCCAAGGGCCCAGGGGGCAAGCGGGGCCATAAGCGCCTCATCCGCGGCCCGGGTGAAAATGGGGATGACAGCTAG
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>TWF2|11344|protein
MAHQTGIHATEELKEFFAKARAGSVRLIKVVIEDEQLVLGASQEPVGRWDQDYDRAVLPLLDAQQPCYLLYRLDSQNAQGFEWLFLAWSPDNSPVRLKMLYAATR
ATVKKEFGGGHIKDELFGTVKDDLSFAGYQKHLSSCAAPAPLTSAERELQQIRINEVKTEISVESKHQTLQGLAFPLQPEAQRALQQLKQKMVNYIQMKLDLERE
TIELVHTEPTDVAQLPSRVPRDAARYHFFLYKHTHEGDPLESVVFIYSMPGYKCSIKERMLYSSCKSRLLDSVEQDFHLEIAKKIEIGDGAELTAEFLYDEVHPK
QHAFKQAFAKPKGPGGKRGHKRLIRGPGENGDDS
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MAHQTGIHATEELKEFFAKARAGSVRLIKVVIEDEQLVLGASQEPVGRWDQDYDRAVLPLLDAQQPCYLLYRLDSQNAQGFEWLFLAWSPDNSPVRLKMLYAATR
ATVKKEFGGGHIKDELFGTVKDDLSFAGYQKHLSSCAAPAPLTSAERELQQIRINEVKTEISVESKHQTLQGLAFPLQPEAQRALQQLKQKMVNYIQMKLDLERE
TIELVHTEPTDVAQLPSRVPRDAARYHFFLYKHTHEGDPLESVVFIYSMPGYKCSIKERMLYSSCKSRLLDSVEQDFHLEIAKKIEIGDGAELTAEFLYDEVHPK
QHAFKQAFAKPKGPGGKRGHKRLIRGPGENGDDS
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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) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top