Evidence Details for KIAA1217
Basic Information Top
| Gene Symbol: | KIAA1217 ( DKFZp761L0424,MGC31990,SKT ) |
|---|---|
| Gene Full Name: | KIAA1217 |
| Band: | 10p12.2-p12.1 |
| Quick Links | Entrez ID:56243; OMIM: NA; Uniprot ID:SKT_HUMAN; ENSEMBL ID: ENSG00000120549; HGNC ID: 25428 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KIAA1217|56243|nucleotide
ATGCAAACATCTGAGATGGATCGGAAGAGAGAAGCGTTCCTAGAACATCTGAAGCAGAAGTACCCCCACCACGCCTCTGCAATCATGGGTCACCAAGAGAGGCTG
AGAGACCAGACAAGGAGCCCCAAACTGTCTCACAGTCCTCAACCACCCAGTCTGGGTGACCCGGTCGAGCATTTATCAGAGACGTCCGCTGATTCTTTGGAAGCC
ATGTCTGAGGGGGATGCTCCAACCCCTTTTTCCAGAGGCAGCCGGACTCGTGCGAGCCTTCCTGTGGTGAGGTCAACCAACCAGACGAAAGAAAGATCTCTGGGG
GTTCTCTATCTCCAGTATGGAGATGAAACCAAGCAGCTCAGGATGCCGAATGAAATCACAAGTGCAGACACAATCCGTGCTCTCTTCGTAAGTGCCTTTCCACAG
CAGCTCACCATGAAAATGCTGGAATCGCCCAGTGTCGCCATTTACATCAAAGATGAAAGCAGAAATGTCTATTATGAATTAAATGATGTAAGGAACATTCAAGAC
AGATCACTCCTCAAAGTGTACAACAAGGATCCTGCACATGCGTTTAATCACACACCAAAAACTATGAATGGAGACATGAGGATGCAGAGAGAACTTGTTTATGCA
AGAGGAGATGGCCCTGGGGCCCCTCGCCCCGGATCTACTGCTCATCCACCCCATGCGATTCCAAATTCCCCACCGTCTACTCCAGTGCCCCATTCCATGCCCCCC
TCCCCGTCCAGAATTCCTTATGGGGGCACCCGCTCCATGGTTGTTCCTGGCAATGCCACCATCCCCAGGGACAGAATCTCCAGCCTGCCAGTCTCCAGACCCATC
TCTCCAAGCCCAAGCGCCATTTTAGAAAGAAGAGATGTCAAGCCTGATGAAGACATGAGTGGCAAAAACATTGCAATGTACAGAAATGAGGGTTTCTATGCTGAT
CCTTACCTTTATCACGAGGGACGGATGAGCATAGCCTCATCCCATGGTGGACACCCACTGGATGTCCCCGACCACATCATTGCATATCACCGCACCGCCATCCGG
TCAGCGAGTGCTTATTGTAACCCCTCAATGCAAGCGGAAATGCATATGGAACAATCACTGTACAGACAGAAATCAAGGAAATATCCGGATAGCCATTTGCCTACA
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ATGCAAACATCTGAGATGGATCGGAAGAGAGAAGCGTTCCTAGAACATCTGAAGCAGAAGTACCCCCACCACGCCTCTGCAATCATGGGTCACCAAGAGAGGCTG
AGAGACCAGACAAGGAGCCCCAAACTGTCTCACAGTCCTCAACCACCCAGTCTGGGTGACCCGGTCGAGCATTTATCAGAGACGTCCGCTGATTCTTTGGAAGCC
ATGTCTGAGGGGGATGCTCCAACCCCTTTTTCCAGAGGCAGCCGGACTCGTGCGAGCCTTCCTGTGGTGAGGTCAACCAACCAGACGAAAGAAAGATCTCTGGGG
GTTCTCTATCTCCAGTATGGAGATGAAACCAAGCAGCTCAGGATGCCGAATGAAATCACAAGTGCAGACACAATCCGTGCTCTCTTCGTAAGTGCCTTTCCACAG
CAGCTCACCATGAAAATGCTGGAATCGCCCAGTGTCGCCATTTACATCAAAGATGAAAGCAGAAATGTCTATTATGAATTAAATGATGTAAGGAACATTCAAGAC
AGATCACTCCTCAAAGTGTACAACAAGGATCCTGCACATGCGTTTAATCACACACCAAAAACTATGAATGGAGACATGAGGATGCAGAGAGAACTTGTTTATGCA
AGAGGAGATGGCCCTGGGGCCCCTCGCCCCGGATCTACTGCTCATCCACCCCATGCGATTCCAAATTCCCCACCGTCTACTCCAGTGCCCCATTCCATGCCCCCC
TCCCCGTCCAGAATTCCTTATGGGGGCACCCGCTCCATGGTTGTTCCTGGCAATGCCACCATCCCCAGGGACAGAATCTCCAGCCTGCCAGTCTCCAGACCCATC
TCTCCAAGCCCAAGCGCCATTTTAGAAAGAAGAGATGTCAAGCCTGATGAAGACATGAGTGGCAAAAACATTGCAATGTACAGAAATGAGGGTTTCTATGCTGAT
CCTTACCTTTATCACGAGGGACGGATGAGCATAGCCTCATCCCATGGTGGACACCCACTGGATGTCCCCGACCACATCATTGCATATCACCGCACCGCCATCCGG
TCAGCGAGTGCTTATTGTAACCCCTCAATGCAAGCGGAAATGCATATGGAACAATCACTGTACAGACAGAAATCAAGGAAATATCCGGATAGCCATTTGCCTACA
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>KIAA1217|56243|protein
MQTSEMDRKREAFLEHLKQKYPHHASAIMGHQERLRDQTRSPKLSHSPQPPSLGDPVEHLSETSADSLEAMSEGDAPTPFSRGSRTRASLPVVRSTNQTKERSLG
VLYLQYGDETKQLRMPNEITSADTIRALFVSAFPQQLTMKMLESPSVAIYIKDESRNVYYELNDVRNIQDRSLLKVYNKDPAHAFNHTPKTMNGDMRMQRELVYA
RGDGPGAPRPGSTAHPPHAIPNSPPSTPVPHSMPPSPSRIPYGGTRSMVVPGNATIPRDRISSLPVSRPISPSPSAILERRDVKPDEDMSGKNIAMYRNEGFYAD
PYLYHEGRMSIASSHGGHPLDVPDHIIAYHRTAIRSASAYCNPSMQAEMHMEQSLYRQKSRKYPDSHLPTLGSKTPPASPHRVSDLRMIDMHAHYNAHGPPHTMQ
PDRASPSRQAFKKEPGTLVYIEKPRSAAGLSSLVDLGPPLMEKQVFAYSTATIPKDRETRERMQAMEKQIASLTGLVQSALFKGPITSYSKDASSEKMMKTTANR
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MQTSEMDRKREAFLEHLKQKYPHHASAIMGHQERLRDQTRSPKLSHSPQPPSLGDPVEHLSETSADSLEAMSEGDAPTPFSRGSRTRASLPVVRSTNQTKERSLG
VLYLQYGDETKQLRMPNEITSADTIRALFVSAFPQQLTMKMLESPSVAIYIKDESRNVYYELNDVRNIQDRSLLKVYNKDPAHAFNHTPKTMNGDMRMQRELVYA
RGDGPGAPRPGSTAHPPHAIPNSPPSTPVPHSMPPSPSRIPYGGTRSMVVPGNATIPRDRISSLPVSRPISPSPSAILERRDVKPDEDMSGKNIAMYRNEGFYAD
PYLYHEGRMSIASSHGGHPLDVPDHIIAYHRTAIRSASAYCNPSMQAEMHMEQSLYRQKSRKYPDSHLPTLGSKTPPASPHRVSDLRMIDMHAHYNAHGPPHTMQ
PDRASPSRQAFKKEPGTLVYIEKPRSAAGLSSLVDLGPPLMEKQVFAYSTATIPKDRETRERMQAMEKQIASLTGLVQSALFKGPITSYSKDASSEKMMKTTANR
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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 (1) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 22 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| 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 | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
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 |
|---|---|---|---|---|
| Jiang YH, 2013 | - | 32 | 39 | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque |
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in 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.