Evidence Details for TSGA14
Basic Information Top
| Gene Symbol: | TSGA14 ( Cep41,DKFZp762H1311 ) |
|---|---|
| Gene Full Name: | testis specific, 14 |
| Band: | 7q32 |
| Quick Links | Entrez ID:95681; OMIM: 610523; Uniprot ID:CEP41_HUMAN; ENSEMBL ID: ENSG00000106477; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TSGA14|95681|nucleotide
ATGTCCCTCCGGAGGCACATTGGGAACCCTGAGTATCTGATGAAAAGGATACCACAGAACCCAAGATACCAGCATATCAAATCAAGACTGGACACTGGTAACAGT
ATGACTAAATATACTGAGAAGCTCGAAGAGATTAAGAAAAATTATAGATACAAAAAAGATGAGCTTTTCAAGAGACTAAAAGTTACAACTTTTGCCCAGCTGATC
ATCCAAGTTGCTTCCCTCTCTGATCAAACACTGGAAGTGACAGCTGAGGAGATTCAAAGGCTGGAAGACAATGATTCTGCAGCTTCAGACCCTGATGCTGAAACC
ACTGCCAGGACCAATGGGAAAGGAAATCCAGGTGAGCAGTCGCCGAGCCCTGAGCAGTTCATAAACAACGCAGGAGCAGGGGACTCCAGCCGCTCAACTCTTCAG
AGTGTCATCAGTGGTGTTGGGGAACTGGATCTAGACAAAGGGCCAGTGAAGAAAGCAGAGCCCCATACCAAAGACAAACCTTATCCTGACTGCCCCTTCCTGCTG
CTAGATGTGCGTGATAGAGATTCTTACCAGCAGTGCCACATTGTTGGAGCTTACAGTTACCCAATTGCAACTCTGTCTAGAACAATGAACCCTTATTCAAATGAT
ATTCTTGAATATAAAAATGCCCATGGCAAGATCATCATTCTGTATGACGATGATGAAAGGCTGGCCAGTCAGGCGGCCACCACCATGTGCGAGCGTGGATTTGAA
AACCTCTTCATGCTTTCCGGAGGTCTAAAAGTCTTAGCTCAGAAATTCCCGGAAGGACTGATTACTGGTTCCCTGCCAGCATCTTGCCAGCAGGCCCTTCCTCCT
GGGTCTGCCCGGAAACGATCCAGCCCCAAAGGGCCACCCCTACCAGCTGAGAATAAATGGAGATTTACCCCAGAAGACTTAAAAAAGATAGAATATTATCTGGAA
GAGGAGCAAGGGCCTGCAGATCATCCTAGCCGACTGAACCAAGCTAACTCCTCCGGAAGAGAGTCCAAGGTGCCTGGTGCCCGAAGCGCTCAGAATCTGCCAGGT
GGCGGCCCCGCCAGCCACTCAAACCCCCGCTCCCTCAGCAGTGGTCACCTGCAAGGCAAACCCTGGAAGTAA
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ATGTCCCTCCGGAGGCACATTGGGAACCCTGAGTATCTGATGAAAAGGATACCACAGAACCCAAGATACCAGCATATCAAATCAAGACTGGACACTGGTAACAGT
ATGACTAAATATACTGAGAAGCTCGAAGAGATTAAGAAAAATTATAGATACAAAAAAGATGAGCTTTTCAAGAGACTAAAAGTTACAACTTTTGCCCAGCTGATC
ATCCAAGTTGCTTCCCTCTCTGATCAAACACTGGAAGTGACAGCTGAGGAGATTCAAAGGCTGGAAGACAATGATTCTGCAGCTTCAGACCCTGATGCTGAAACC
ACTGCCAGGACCAATGGGAAAGGAAATCCAGGTGAGCAGTCGCCGAGCCCTGAGCAGTTCATAAACAACGCAGGAGCAGGGGACTCCAGCCGCTCAACTCTTCAG
AGTGTCATCAGTGGTGTTGGGGAACTGGATCTAGACAAAGGGCCAGTGAAGAAAGCAGAGCCCCATACCAAAGACAAACCTTATCCTGACTGCCCCTTCCTGCTG
CTAGATGTGCGTGATAGAGATTCTTACCAGCAGTGCCACATTGTTGGAGCTTACAGTTACCCAATTGCAACTCTGTCTAGAACAATGAACCCTTATTCAAATGAT
ATTCTTGAATATAAAAATGCCCATGGCAAGATCATCATTCTGTATGACGATGATGAAAGGCTGGCCAGTCAGGCGGCCACCACCATGTGCGAGCGTGGATTTGAA
AACCTCTTCATGCTTTCCGGAGGTCTAAAAGTCTTAGCTCAGAAATTCCCGGAAGGACTGATTACTGGTTCCCTGCCAGCATCTTGCCAGCAGGCCCTTCCTCCT
GGGTCTGCCCGGAAACGATCCAGCCCCAAAGGGCCACCCCTACCAGCTGAGAATAAATGGAGATTTACCCCAGAAGACTTAAAAAAGATAGAATATTATCTGGAA
GAGGAGCAAGGGCCTGCAGATCATCCTAGCCGACTGAACCAAGCTAACTCCTCCGGAAGAGAGTCCAAGGTGCCTGGTGCCCGAAGCGCTCAGAATCTGCCAGGT
GGCGGCCCCGCCAGCCACTCAAACCCCCGCTCCCTCAGCAGTGGTCACCTGCAAGGCAAACCCTGGAAGTAA
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>TSGA14|95681|protein
MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAET
TARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSND
ILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLE
EEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK
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MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAET
TARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSND
ILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPPGSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLE
EEQGPADHPSRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK
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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 (0) | 1 (3) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen |  | | autism | 222 | - | 222 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Korvatska, 2011_1 | USA | RT-PCR, TaqMan SNP assays | 71 | - (-) | | | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.758646 | Down | 3.24088 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.