Evidence Details for SPAG17
Basic Information Top
| Gene Symbol: | SPAG17 ( DKFZp434B0610,FLJ34497,FLJ44343,FLJ44353,PF6,RP4-776P7.2 ) |
|---|---|
| Gene Full Name: | sperm associated antigen 17 |
| Band: | 1p12 |
| Quick Links | Entrez ID:200162; OMIM: NA; Uniprot ID:SPG17_HUMAN; ENSEMBL ID: ENSG00000155761; HGNC ID: 26620 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SPAG17|200162|nucleotide
ATGGCACCCAAGAAGGAGAAAGGAGGAACTGTGAACACCAGTTCTAAGATATGGGAACCCTCGCTCATAGCTGCACAGTTCAATCAGAACGATTGGCAGGCCTCC
ATTGCTTTTGTGGTTGGGAACCAGATTGAAGATGATCTTCTCATCCAAGCCCTTACCGTGGCTGTCCAGGTCCCTCAGCGTAAACTCTTCAGTATGGTGTCGTGG
CAAGACATTCTCCAGCAGATTAATGAAATAAATACACTTGTTGGATCTGCTTCATCTAAAAAGGCAAAAAAACCTGTAGGTGGTAATGCTCCTTTATATTATGAG
GTGTTAACGGCAGCAAAAGCAATTATGGATAGTGGAGAGAAATTAACCTTACCACTGATAGGGAAACTCTTGAAATTTCAACTTCTCCAGATTAAATTTAAGGAC
CAACAGCGACGGGAAAATGAAAAGAAGGTAATAGAAGACAAACCTAAGTTAGAAAAGGATAAAGGGAAAGCAAAATCTCCCAAGGAGAAAAAGGCTCCAAGTGCC
AAGCCTGCCAAAGGAAAGGGAAAGGATCAGCCTGAGGCAAATGCACCAGTGAAAAAGACCACCCAGTTAAAGCGGAGAGGAGAAGACGACCACACCAATCGTTAC
ATTGACGATGAGCCAGATGATGGTGCCCAACATTACATTATAGTTGTGGGCTTTAACAATCCTCAGCTATTAGCAATTATGGCTGAGCTTGGCATTCCTATAACC
AGCGTGATTAAAATATCTTCAGAGAATTATGAACCTCTGCAGACACACCTGGCAGCAGTTAACCAGCAGCAGGAAGTTCTTCTTCAGTCAGAAGATCTAGAAGCA
GAAAAATTGAAGAAAGAAAATGCCATAAAAGAGCTTAAAACTTTCTGGAAGTACTTGGAACCAGTCCTGAATAATGAGAAACCTGAAACAAATCTCTTTGATGTT
GCTCGACTTGAGTACATGGTCAAAGCAGCTGATTTTCCTTCTGACTGGTCAGATGGTGAGATGATGCTGAAATTGGGCACTGATATTTTTGAAAATATTGCCTGC
TTGATGTATGACATCCTGGATTGGAAAAGGCAGCACCAGCACTATTTGGAAAGCATGCAGCTTATTAATGTTCCACAAGTGGTTAATGAGAAACCTGTATTAGAA
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ATGGCACCCAAGAAGGAGAAAGGAGGAACTGTGAACACCAGTTCTAAGATATGGGAACCCTCGCTCATAGCTGCACAGTTCAATCAGAACGATTGGCAGGCCTCC
ATTGCTTTTGTGGTTGGGAACCAGATTGAAGATGATCTTCTCATCCAAGCCCTTACCGTGGCTGTCCAGGTCCCTCAGCGTAAACTCTTCAGTATGGTGTCGTGG
CAAGACATTCTCCAGCAGATTAATGAAATAAATACACTTGTTGGATCTGCTTCATCTAAAAAGGCAAAAAAACCTGTAGGTGGTAATGCTCCTTTATATTATGAG
GTGTTAACGGCAGCAAAAGCAATTATGGATAGTGGAGAGAAATTAACCTTACCACTGATAGGGAAACTCTTGAAATTTCAACTTCTCCAGATTAAATTTAAGGAC
CAACAGCGACGGGAAAATGAAAAGAAGGTAATAGAAGACAAACCTAAGTTAGAAAAGGATAAAGGGAAAGCAAAATCTCCCAAGGAGAAAAAGGCTCCAAGTGCC
AAGCCTGCCAAAGGAAAGGGAAAGGATCAGCCTGAGGCAAATGCACCAGTGAAAAAGACCACCCAGTTAAAGCGGAGAGGAGAAGACGACCACACCAATCGTTAC
ATTGACGATGAGCCAGATGATGGTGCCCAACATTACATTATAGTTGTGGGCTTTAACAATCCTCAGCTATTAGCAATTATGGCTGAGCTTGGCATTCCTATAACC
AGCGTGATTAAAATATCTTCAGAGAATTATGAACCTCTGCAGACACACCTGGCAGCAGTTAACCAGCAGCAGGAAGTTCTTCTTCAGTCAGAAGATCTAGAAGCA
GAAAAATTGAAGAAAGAAAATGCCATAAAAGAGCTTAAAACTTTCTGGAAGTACTTGGAACCAGTCCTGAATAATGAGAAACCTGAAACAAATCTCTTTGATGTT
GCTCGACTTGAGTACATGGTCAAAGCAGCTGATTTTCCTTCTGACTGGTCAGATGGTGAGATGATGCTGAAATTGGGCACTGATATTTTTGAAAATATTGCCTGC
TTGATGTATGACATCCTGGATTGGAAAAGGCAGCACCAGCACTATTTGGAAAGCATGCAGCTTATTAATGTTCCACAAGTGGTTAATGAGAAACCTGTATTAGAA
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>SPAG17|200162|protein
MAPKKEKGGTVNTSSKIWEPSLIAAQFNQNDWQASIAFVVGNQIEDDLLIQALTVAVQVPQRKLFSMVSWQDILQQINEINTLVGSASSKKAKKPVGGNAPLYYE
VLTAAKAIMDSGEKLTLPLIGKLLKFQLLQIKFKDQQRRENEKKVIEDKPKLEKDKGKAKSPKEKKAPSAKPAKGKGKDQPEANAPVKKTTQLKRRGEDDHTNRY
IDDEPDDGAQHYIIVVGFNNPQLLAIMAELGIPITSVIKISSENYEPLQTHLAAVNQQQEVLLQSEDLEAEKLKKENAIKELKTFWKYLEPVLNNEKPETNLFDV
ARLEYMVKAADFPSDWSDGEMMLKLGTDIFENIACLMYDILDWKRQHQHYLESMQLINVPQVVNEKPVLEAMPTSEAPQPAVPAPGKKKAQYEEPQAPPPVTSVI
TTEVDMRYYNYLLNPIREEFISVPLILHCMLEQVVATEEDLVPPSLREPSPRADGLDHRIAAHIVSLLPSLCLSEREKKNLHDIFLSEEENESKAVPKGPLLLNY
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MAPKKEKGGTVNTSSKIWEPSLIAAQFNQNDWQASIAFVVGNQIEDDLLIQALTVAVQVPQRKLFSMVSWQDILQQINEINTLVGSASSKKAKKPVGGNAPLYYE
VLTAAKAIMDSGEKLTLPLIGKLLKFQLLQIKFKDQQRRENEKKVIEDKPKLEKDKGKAKSPKEKKAPSAKPAKGKGKDQPEANAPVKKTTQLKRRGEDDHTNRY
IDDEPDDGAQHYIIVVGFNNPQLLAIMAELGIPITSVIKISSENYEPLQTHLAAVNQQQEVLLQSEDLEAEKLKKENAIKELKTFWKYLEPVLNNEKPETNLFDV
ARLEYMVKAADFPSDWSDGEMMLKLGTDIFENIACLMYDILDWKRQHQHYLESMQLINVPQVVNEKPVLEAMPTSEAPQPAVPAPGKKKAQYEEPQAPPPVTSVI
TTEVDMRYYNYLLNPIREEFISVPLILHCMLEQVVATEEDLVPPSLREPSPRADGLDHRIAAHIVSLLPSLCLSEREKKNLHDIFLSEEENESKAVPKGPLLLNY
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (2) |
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 | ||||||
| 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 |
|---|---|---|---|---|
| Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
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.