Evidence Details for SPATA16
Basic Information Top
| Gene Symbol: | SPATA16 ( NYD-SP12 ) |
|---|---|
| Gene Full Name: | spermatogenesis associated 16 |
| Band: | 3q26.31 |
| Quick Links | Entrez ID:83893; OMIM: 609856; Uniprot ID:SPT16_HUMAN; ENSEMBL ID: ENSG00000144962; HGNC ID: 29935 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SPATA16|83893|nucleotide
ATGGATGCAGGAAGCAGTAGGAGTTTGGAGAATGCAGTGAATAGGATCTATCATGATCAGCTTGTTCCAAAGATAAACACAAGCAAGAAAATGTCCACCTTAGCG
CACCCACCTAACATCCTGGAAATGTCACAAGAGATTAAGAAAAACTGTGGAGGTAAACAGGTAGAAATCACACTTGAAAGAACAAAAATGACAAAGGGCATCAAA
GAAAAACAAAGCAATGATTTAGAGAAAGCAGCCTTTAAACGGAAGGCAGAAGGTGAAGAAAAGCCAACTAGAAAGAAACAGGCAAAGATAACAGAACTTGACAAT
CAGTTAATCACCATGCCTCTGCCTCACATCCCCTTAAAGAACATAATGGATGTGGAAATGAAGTTGGTCTACATTGATGAAATGGGTGTTCGCTATGAGTTTGTA
GAGTCCTTCATGTCTACTGGGAGTCAGCCAACATGCCAAGCTGCTGAAATAGTAGACCCTTTGAGTGTACATAATTTCAGCTTTCTGCCTCAGATTGACAAATGG
CTTCAGGTAGCCTTAAAGGATGCCAGCTCTTGCTATAGACAAAAGAAATACGCCTTGGCAGCAGGACAGTTCAGAACAGCACTTGAGCTTTGCAGCAAAGGAGCA
GTTCTGGGAGAACCATTTGATGCACCTGCTGAAGATATAGCAAGCGTGGCAAGTTTCATTGAGACAAAGCTTGTTACCTGTTATCTACGGATGAGGAAACCAGAT
CTTGCCCTGAATCATGCACACAGGAGCATTGTTTTAAACCCAGCCTATTTCCGGAATCATCTTCGTCAAGCAACAGTGTTTAGATGTCTGGAGAGGTATTCAGAG
GCTGCCCGGAGTGCCATGATTGCTGACTACATGTTCTGGCTTGGTGGAGGAAGGGAAGAGAGCATAAGCAAGCTCATCAAACTGTATTGGCAGGCCATGATTGAG
GAAGCCATCACCAGAGCTGAATCTTTCTCGGTTATGTACACACCATTTGCGACAAAAATAAGAGCTGATAAAATAGAAAAAGTAAAAGATGCTTTCACAAAAACT
CATCCTGCATATGCAGAGTATATGTACACAGATCTTCAAGCACTCCACATGTTGCCTCAGACAGTTGACTGGTCATCTTTTCCTCCCCAACAATATCTCTTGACT
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ATGGATGCAGGAAGCAGTAGGAGTTTGGAGAATGCAGTGAATAGGATCTATCATGATCAGCTTGTTCCAAAGATAAACACAAGCAAGAAAATGTCCACCTTAGCG
CACCCACCTAACATCCTGGAAATGTCACAAGAGATTAAGAAAAACTGTGGAGGTAAACAGGTAGAAATCACACTTGAAAGAACAAAAATGACAAAGGGCATCAAA
GAAAAACAAAGCAATGATTTAGAGAAAGCAGCCTTTAAACGGAAGGCAGAAGGTGAAGAAAAGCCAACTAGAAAGAAACAGGCAAAGATAACAGAACTTGACAAT
CAGTTAATCACCATGCCTCTGCCTCACATCCCCTTAAAGAACATAATGGATGTGGAAATGAAGTTGGTCTACATTGATGAAATGGGTGTTCGCTATGAGTTTGTA
GAGTCCTTCATGTCTACTGGGAGTCAGCCAACATGCCAAGCTGCTGAAATAGTAGACCCTTTGAGTGTACATAATTTCAGCTTTCTGCCTCAGATTGACAAATGG
CTTCAGGTAGCCTTAAAGGATGCCAGCTCTTGCTATAGACAAAAGAAATACGCCTTGGCAGCAGGACAGTTCAGAACAGCACTTGAGCTTTGCAGCAAAGGAGCA
GTTCTGGGAGAACCATTTGATGCACCTGCTGAAGATATAGCAAGCGTGGCAAGTTTCATTGAGACAAAGCTTGTTACCTGTTATCTACGGATGAGGAAACCAGAT
CTTGCCCTGAATCATGCACACAGGAGCATTGTTTTAAACCCAGCCTATTTCCGGAATCATCTTCGTCAAGCAACAGTGTTTAGATGTCTGGAGAGGTATTCAGAG
GCTGCCCGGAGTGCCATGATTGCTGACTACATGTTCTGGCTTGGTGGAGGAAGGGAAGAGAGCATAAGCAAGCTCATCAAACTGTATTGGCAGGCCATGATTGAG
GAAGCCATCACCAGAGCTGAATCTTTCTCGGTTATGTACACACCATTTGCGACAAAAATAAGAGCTGATAAAATAGAAAAAGTAAAAGATGCTTTCACAAAAACT
CATCCTGCATATGCAGAGTATATGTACACAGATCTTCAAGCACTCCACATGTTGCCTCAGACAGTTGACTGGTCATCTTTTCCTCCCCAACAATATCTCTTGACT
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>SPATA16|83893|protein
MDAGSSRSLENAVNRIYHDQLVPKINTSKKMSTLAHPPNILEMSQEIKKNCGGKQVEITLERTKMTKGIKEKQSNDLEKAAFKRKAEGEEKPTRKKQAKITELDN
QLITMPLPHIPLKNIMDVEMKLVYIDEMGVRYEFVESFMSTGSQPTCQAAEIVDPLSVHNFSFLPQIDKWLQVALKDASSCYRQKKYALAAGQFRTALELCSKGA
VLGEPFDAPAEDIASVASFIETKLVTCYLRMRKPDLALNHAHRSIVLNPAYFRNHLRQATVFRCLERYSEAARSAMIADYMFWLGGGREESISKLIKLYWQAMIE
EAITRAESFSVMYTPFATKIRADKIEKVKDAFTKTHPAYAEYMYTDLQALHMLPQTVDWSSFPPQQYLLTLGFKNKDDGKFLEKISSRKLPIFTEHKTPFGLTRE
DTVRQMETMGKRILPILDFIRSTQLNGSFPASSGVMEKLQYASLLSQLQRVKEQSQVINQAMAELATIPYLQDISQQEAELLQSLMADAMDTLEGRRNNNERVWN
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MDAGSSRSLENAVNRIYHDQLVPKINTSKKMSTLAHPPNILEMSQEIKKNCGGKQVEITLERTKMTKGIKEKQSNDLEKAAFKRKAEGEEKPTRKKQAKITELDN
QLITMPLPHIPLKNIMDVEMKLVYIDEMGVRYEFVESFMSTGSQPTCQAAEIVDPLSVHNFSFLPQIDKWLQVALKDASSCYRQKKYALAAGQFRTALELCSKGA
VLGEPFDAPAEDIASVASFIETKLVTCYLRMRKPDLALNHAHRSIVLNPAYFRNHLRQATVFRCLERYSEAARSAMIADYMFWLGGGREESISKLIKLYWQAMIE
EAITRAESFSVMYTPFATKIRADKIEKVKDAFTKTHPAYAEYMYTDLQALHMLPQTVDWSSFPPQQYLLTLGFKNKDDGKFLEKISSRKLPIFTEHKTPFGLTRE
DTVRQMETMGKRILPILDFIRSTQLNGSFPASSGVMEKLQYASLLSQLQRVKEQSQVINQAMAELATIPYLQDISQQEAELLQSLMADAMDTLEGRRNNNERVWN
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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 | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.