Evidence Details for AHCTF1
Basic Information Top
| Gene Symbol: | AHCTF1 ( DKFZp434N093,ELYS,MST108,TMBS62 ) |
|---|---|
| Gene Full Name: | AT hook containing transcription factor 1 |
| Band: | 1q44 |
| Quick Links | Entrez ID:25909; OMIM: 610853; Uniprot ID:ELYS_HUMAN; ENSEMBL ID: ENSG00000153207; HGNC ID: 24618 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AHCTF1|25909|nucleotide
ATGGCGGCGGAGCGGCGCTGTGGAAGTATGCGAGACTTAAGAGCTCAAGTGACTAGTGGTCTCCTGCCATTTCCAGAAGTGACTCTTCAAGCCCTTGGAGAAGAC
GAAATAACATTAGAATCTGTGCTTCGTGGAAAGTTTGCTGCAGGGAAAAATGGACTTGCTTGCTTGGCTTGTGGTCCACAACTTGAGGTAGTAAACTCTATAACA
GGAGAGCGATTGTCTGCTTACAGATTCAGTGGAGTCAATGAACAGCCTCCTGTAGTTTTAGCTGTGAAAGAATTCTCTTGGCAGAAGAGAACTGGATTATTAATA
GGATTGGAAGAAACAGAAGGGAGTGTTCTCTGTCTTTATGACCTTGGAATATCAAAAGTAGTTAAAGCAGTTGTTCTTCCTGGAAGGGTAACAGCTATTGAACCT
ATAATTAATCATGGAGGAGCCAGTGCAAGCACTCAGCATTTACATCCAAGTCTGCGATGGCTTTTTGGAGTGGCAGCTGTGGTCACTGATGTTGGACAGATCCTT
CTTGTTGACCTATGTTTGGATGACTTGTCATGCAATCAAAATGAAGTTGAAGCATCAGATCTTGAAGTTCTAACTGGTATCCCAGCTGAAGTACCACACATTAGA
GAAAGTGTAATGAGACAAGGGCGCCATCTGTGTTTCCAGTTAGTAAGTCCAACAGGAACAGCTGTTTCAACTCTTAGTTACATAAGCAGGACAAATCAGCTTGCT
GTAGGTTTTTCTGATGGCTATCTAGCACTTTGGAACATGAAAAGCATGAAAAGAGAATATTACATACAATTGGAAAGTGGACAAGTTCCTGTATATGCTGTCACT
TTTCAAGAACCTGAGAATGATCCTCGGAATTGCTGTTACTTGTGGGCTGTTCAGTCTACACAAGATAGTGAAGGGGATGTTTTGAGTTTGCATCTGCTGCAGCTG
GCCTTTGGTAATAGAAAGTGTTTGGCATCAGGACAAATCTTATATGAGGGGTTAGAATACTGTGAAGAAAGATACACCCTGGACCTGACAGGTGGCATGTTCCCT
TTGAGGGGACAGACGAGTAATACCAAATTGTTGGGATGCCAGAGTATAGAGAAATTTCGATCTCATGGTGACAGGGAGGAAGGCGTGAATGAAGCTCTATCGCCT
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ATGGCGGCGGAGCGGCGCTGTGGAAGTATGCGAGACTTAAGAGCTCAAGTGACTAGTGGTCTCCTGCCATTTCCAGAAGTGACTCTTCAAGCCCTTGGAGAAGAC
GAAATAACATTAGAATCTGTGCTTCGTGGAAAGTTTGCTGCAGGGAAAAATGGACTTGCTTGCTTGGCTTGTGGTCCACAACTTGAGGTAGTAAACTCTATAACA
GGAGAGCGATTGTCTGCTTACAGATTCAGTGGAGTCAATGAACAGCCTCCTGTAGTTTTAGCTGTGAAAGAATTCTCTTGGCAGAAGAGAACTGGATTATTAATA
GGATTGGAAGAAACAGAAGGGAGTGTTCTCTGTCTTTATGACCTTGGAATATCAAAAGTAGTTAAAGCAGTTGTTCTTCCTGGAAGGGTAACAGCTATTGAACCT
ATAATTAATCATGGAGGAGCCAGTGCAAGCACTCAGCATTTACATCCAAGTCTGCGATGGCTTTTTGGAGTGGCAGCTGTGGTCACTGATGTTGGACAGATCCTT
CTTGTTGACCTATGTTTGGATGACTTGTCATGCAATCAAAATGAAGTTGAAGCATCAGATCTTGAAGTTCTAACTGGTATCCCAGCTGAAGTACCACACATTAGA
GAAAGTGTAATGAGACAAGGGCGCCATCTGTGTTTCCAGTTAGTAAGTCCAACAGGAACAGCTGTTTCAACTCTTAGTTACATAAGCAGGACAAATCAGCTTGCT
GTAGGTTTTTCTGATGGCTATCTAGCACTTTGGAACATGAAAAGCATGAAAAGAGAATATTACATACAATTGGAAAGTGGACAAGTTCCTGTATATGCTGTCACT
TTTCAAGAACCTGAGAATGATCCTCGGAATTGCTGTTACTTGTGGGCTGTTCAGTCTACACAAGATAGTGAAGGGGATGTTTTGAGTTTGCATCTGCTGCAGCTG
GCCTTTGGTAATAGAAAGTGTTTGGCATCAGGACAAATCTTATATGAGGGGTTAGAATACTGTGAAGAAAGATACACCCTGGACCTGACAGGTGGCATGTTCCCT
TTGAGGGGACAGACGAGTAATACCAAATTGTTGGGATGCCAGAGTATAGAGAAATTTCGATCTCATGGTGACAGGGAGGAAGGCGTGAATGAAGCTCTATCGCCT
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>AHCTF1|25909|protein
MAAERRCGSMRDLRAQVTSGLLPFPEVTLQALGEDEITLESVLRGKFAAGKNGLACLACGPQLEVVNSITGERLSAYRFSGVNEQPPVVLAVKEFSWQKRTGLLI
GLEETEGSVLCLYDLGISKVVKAVVLPGRVTAIEPIINHGGASASTQHLHPSLRWLFGVAAVVTDVGQILLVDLCLDDLSCNQNEVEASDLEVLTGIPAEVPHIR
ESVMRQGRHLCFQLVSPTGTAVSTLSYISRTNQLAVGFSDGYLALWNMKSMKREYYIQLESGQVPVYAVTFQEPENDPRNCCYLWAVQSTQDSEGDVLSLHLLQL
AFGNRKCLASGQILYEGLEYCEERYTLDLTGGMFPLRGQTSNTKLLGCQSIEKFRSHGDREEGVNEALSPDTSVSVFTWQVNIYGQGKPSVYLGLFDINRWYHAQ
MPDSLRSGEYLHNCSYFALWSLESVVSRTSPHGILDILVHERSLNRGVPPSYPPPEQFFNPSTYNFDATCLLNSGVVHLTCTGFQKETLTFLKKSGPSLNELIPD
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MAAERRCGSMRDLRAQVTSGLLPFPEVTLQALGEDEITLESVLRGKFAAGKNGLACLACGPQLEVVNSITGERLSAYRFSGVNEQPPVVLAVKEFSWQKRTGLLI
GLEETEGSVLCLYDLGISKVVKAVVLPGRVTAIEPIINHGGASASTQHLHPSLRWLFGVAAVVTDVGQILLVDLCLDDLSCNQNEVEASDLEVLTGIPAEVPHIR
ESVMRQGRHLCFQLVSPTGTAVSTLSYISRTNQLAVGFSDGYLALWNMKSMKREYYIQLESGQVPVYAVTFQEPENDPRNCCYLWAVQSTQDSEGDVLSLHLLQL
AFGNRKCLASGQILYEGLEYCEERYTLDLTGGMFPLRGQTSNTKLLGCQSIEKFRSHGDREEGVNEALSPDTSVSVFTWQVNIYGQGKPSVYLGLFDINRWYHAQ
MPDSLRSGEYLHNCSYFALWSLESVVSRTSPHGILDILVHERSLNRGVPPSYPPPEQFFNPSTYNFDATCLLNSGVVHLTCTGFQKETLTFLKKSGPSLNELIPD
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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 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| 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 | ||||||
| Risch, 1999 | USA | microsatellite-based genomic screen | | | PDD | 90 | - | 90 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.