Evidence Details for KIAA1549
Basic Information Top
| Gene Symbol: | KIAA1549 ( FLJ11731,FLJ38703,FLJ40644 ) |
|---|---|
| Gene Full Name: | KIAA1549 |
| Band: | 7q34 |
| Quick Links | Entrez ID:57670; OMIM: 613344; Uniprot ID:B6HY55_HUMAN; ENSEMBL ID: ENSG00000122778; HGNC ID: 22219 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KIAA1549|57670|nucleotide
ATGCCGGGGGCGCGGCGCCGACGCCGAGGCGCGGCCATGGAGGGGAAGCCCCGCGCCGGGGTCGCGCTGGCCCCGGGGCCGAGCGGCCGACGGCCTTCCGCCCGC
TGCGCCCGCCGCCGCCGCCCGGGGCTGCTGCTTCCTGGCCTCTGGCTGCTGCTGCTGGCCCGGCCGGCCTCGTGCGCCCCAGATGAGCTCTCTCCGGAACAGCAC
AACCTTTCTTTATACTCCATGGAGCTCGTGCTGAAGAAAAGCACTGGGCACAGCGCTGCACAAGTGGCCTTAACAGAAACTGCTCCCGGCTCCCAGCACAGCAGT
CCTCTCCATGTCACAGCCCCGCCGTCTGCCACTACTTTTGATACAGCCTTTTTTAACCAAGGAAAACAGACCAAAAGTACAGCAGATCCCAGCATCTTTGTGGCA
ACTTACGTGTCAGTGACGAGTAAAGAGGTGGCCGTCAATGACGATGAGATGGATAACTTTCTGCCAGATACTCACTGGACCACTCCACGGATGGTTTCTCCAATA
CAGTATATCACAGTCAGCCCACCAGGGCTGCCCAGGGAAGCATTAGAACCTATGCTCACTCCATCATTACCCATGGTTTCTTTACAAGATGAAGAAGTGACATCG
GGCTGGCAGAACACAACGCGACAACCAGCGGCATATGCTGAGTCCGCCAGTCATTTCCACACCTTTCGGTCAGCTTTTCGCACCTCTGAGGGCATCGTTCCAACT
CCTGGCAGGAATTTGGTGCTTTATCCTACTGATGCTTACAGTCATTTATCAAGCAGGACTCTGCCAGAGATTGTGGCTTCCCTAACAGAGGGTGTGGAAACCACC
CTTTTTTTAAGCTCCCGGTCTTTAATGCCACAGCCGTTAGGCGACGGCATTACTATACCGTTGCCCTCCTTGGGGGAGGTCTCACAGCCTCCAGAGGAGGTTTGG
GCCACAAGTGCAGACAGATACACTGATGTGACCACTGTGTTGAGTCAAAGCCTAGAAGAAACCATCTCTCCAAGAACATACCCCACTGTGACTGCATCGCACGCA
GCCCTTGCATTCAGCAGGACACATTCTCCATTGCTTTCAACTCCTCTTGCATTTGCGTCCTCTGCTTCACCAACTGATGTTTCATCTAACCCCTTTCTCCCTAGC
Show »
ATGCCGGGGGCGCGGCGCCGACGCCGAGGCGCGGCCATGGAGGGGAAGCCCCGCGCCGGGGTCGCGCTGGCCCCGGGGCCGAGCGGCCGACGGCCTTCCGCCCGC
TGCGCCCGCCGCCGCCGCCCGGGGCTGCTGCTTCCTGGCCTCTGGCTGCTGCTGCTGGCCCGGCCGGCCTCGTGCGCCCCAGATGAGCTCTCTCCGGAACAGCAC
AACCTTTCTTTATACTCCATGGAGCTCGTGCTGAAGAAAAGCACTGGGCACAGCGCTGCACAAGTGGCCTTAACAGAAACTGCTCCCGGCTCCCAGCACAGCAGT
CCTCTCCATGTCACAGCCCCGCCGTCTGCCACTACTTTTGATACAGCCTTTTTTAACCAAGGAAAACAGACCAAAAGTACAGCAGATCCCAGCATCTTTGTGGCA
ACTTACGTGTCAGTGACGAGTAAAGAGGTGGCCGTCAATGACGATGAGATGGATAACTTTCTGCCAGATACTCACTGGACCACTCCACGGATGGTTTCTCCAATA
CAGTATATCACAGTCAGCCCACCAGGGCTGCCCAGGGAAGCATTAGAACCTATGCTCACTCCATCATTACCCATGGTTTCTTTACAAGATGAAGAAGTGACATCG
GGCTGGCAGAACACAACGCGACAACCAGCGGCATATGCTGAGTCCGCCAGTCATTTCCACACCTTTCGGTCAGCTTTTCGCACCTCTGAGGGCATCGTTCCAACT
CCTGGCAGGAATTTGGTGCTTTATCCTACTGATGCTTACAGTCATTTATCAAGCAGGACTCTGCCAGAGATTGTGGCTTCCCTAACAGAGGGTGTGGAAACCACC
CTTTTTTTAAGCTCCCGGTCTTTAATGCCACAGCCGTTAGGCGACGGCATTACTATACCGTTGCCCTCCTTGGGGGAGGTCTCACAGCCTCCAGAGGAGGTTTGG
GCCACAAGTGCAGACAGATACACTGATGTGACCACTGTGTTGAGTCAAAGCCTAGAAGAAACCATCTCTCCAAGAACATACCCCACTGTGACTGCATCGCACGCA
GCCCTTGCATTCAGCAGGACACATTCTCCATTGCTTTCAACTCCTCTTGCATTTGCGTCCTCTGCTTCACCAACTGATGTTTCATCTAACCCCTTTCTCCCTAGC
Show »
>KIAA1549|57670|protein
MPGARRRRRGAAMEGKPRAGVALAPGPSGRRPSARCARRRRPGLLLPGLWLLLLARPASCAPDELSPEQHNLSLYSMELVLKKSTGHSAAQVALTETAPGSQHSS
PLHVTAPPSATTFDTAFFNQGKQTKSTADPSIFVATYVSVTSKEVAVNDDEMDNFLPDTHWTTPRMVSPIQYITVSPPGLPREALEPMLTPSLPMVSLQDEEVTS
GWQNTTRQPAAYAESASHFHTFRSAFRTSEGIVPTPGRNLVLYPTDAYSHLSSRTLPEIVASLTEGVETTLFLSSRSLMPQPLGDGITIPLPSLGEVSQPPEEVW
ATSADRYTDVTTVLSQSLEETISPRTYPTVTASHAALAFSRTHSPLLSTPLAFASSASPTDVSSNPFLPSDSSKTSELHSNSALPGPVDNTHILSPVSSFRPYTW
CAACTVPSPQQVLATSLMEKDVGSGDGAETLCMTVLEESSISLMSSVVADFSEFEEDPQVFNTLFPSRPIVPLSSRSMEISETSVGISAEVDMSSVTTTQVPPAH
Show »
MPGARRRRRGAAMEGKPRAGVALAPGPSGRRPSARCARRRRPGLLLPGLWLLLLARPASCAPDELSPEQHNLSLYSMELVLKKSTGHSAAQVALTETAPGSQHSS
PLHVTAPPSATTFDTAFFNQGKQTKSTADPSIFVATYVSVTSKEVAVNDDEMDNFLPDTHWTTPRMVSPIQYITVSPPGLPREALEPMLTPSLPMVSLQDEEVTS
GWQNTTRQPAAYAESASHFHTFRSAFRTSEGIVPTPGRNLVLYPTDAYSHLSSRTLPEIVASLTEGVETTLFLSSRSLMPQPLGDGITIPLPSLGEVSQPPEEVW
ATSADRYTDVTTVLSQSLEETISPRTYPTVTASHAALAFSRTHSPLLSTPLAFASSASPTDVSSNPFLPSDSSKTSELHSNSALPGPVDNTHILSPVSSFRPYTW
CAACTVPSPQQVLATSLMEKDVGSGDGAETLCMTVLEESSISLMSSVVADFSEFEEDPQVFNTLFPSRPIVPLSSRSMEISETSVGISAEVDMSSVTTTQVPPAH
Show »
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 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
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 | ||||||||||
| Alarcon, 2008_1 | AGRE | Perlegen, Southern Caifornia Genotyping Center, Taqman assay | 304 | - (-) | |  | AD | - - |
- - | |
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 TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
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.