Evidence Details for KIAA1683
Basic Information Top
Gene Symbol: | KIAA1683 ( MGC131731 ) |
---|---|
Gene Full Name: | KIAA1683 |
Band: | 19p13.11 |
Quick Links | Entrez ID:80726; OMIM: NA; Uniprot ID:K1683_HUMAN; ENSEMBL ID: ENSG00000130518; HGNC ID: 29350 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KIAA1683|80726|nucleotide
ATGACCCTTCAAGGCAGAGCTGACCTGTCCGGTAATCAAGGCAATGCAGCCGGCCGCCTAGCTACAGTTCACGAGCCAGTTGTCACCCAGTGGGCGGTGCATCCT
CCAGCCCCCGCTCACCCCAGTCTCCTGGACAAAATGGAGAAAGCGCCTCCACAGCCCCAGCACGAGGGCCTCAAGTCCAAGGAGCATCTTCCGCAACAGCCTGCC
GAAGGCAAGACGGCGTCCCGCCGCGTCCCACGCCTCCGGGCTGTGGTCGAGAGCCAGGCCTTCAAGAACATCCTGGTAGACGAGATGGACATGATGCACGCCCGT
GCAGCCACGCTCATCCAAGCCAACTGGAGGGGCTATTGGCTCCGGCAGAAGCTGATTTCCCAGATGATGGCGGCCAAGGCCATCCAGGAGGCCTGGCGGCGCTTC
AACAAGAGACACATCCTTCACTCCAGCAAGTCGTTGGTAAAGAAAACGAGGGCGGAGGAGGGGGACATACCTTATCACGCCCCACAGCAGGTGCGCTTCCAGCAT
CCGGAAGAGAACCGCCTTCTGTCCCCGCCCATCATGGTGAACAAGGAGACCCAGTTCCCTTCCTGTGACAATCTGGTCCTCTGCAGACCCCAGTCGTCCCCCCTC
CTGCAGCCCCCAGCAGCTCAGGGTACCCCAGAGCCCTGTGTGCAGGGTCCTCATGCTGCCAGAGTCCGGGGGCTGGCCTTCCTGCCACACCAGACGGTCACCATC
AGATTTCCCTGCCCAGTGAGTCTGGACGCAAAATGCCAGCCATGCCTGCTGACCAGAACCATCAGAAGCACCTGCCTCGTCCACATAGAGGGTGACTCAGTGAAG
ACCAAACGTGTAAGTGCCCGGACCAACAAAGCCAGGGCTCCGGAGACACCATTGTCCAGAAGGTATGACCAGGCAGTTACGAGACCATCCAGAGCCCAAACCCAG
GGCCCTGTGAAAGCAGAGACCCCCAAAGCCCCCTTCCAGATATGTCCAGGGCCCATGATCACCAAGACTCTACTCCAGACATATCCAGTGGTCTCCGTGACCCTG
CCACAGACATATCCAGCGTCCACGATGACCACCACCCCACCCAAGACTAGCCCAGTTCCCAAAGTAACAATAATCAAGACCCCAGCCCAGATGTATCCGGGGCCC
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ATGACCCTTCAAGGCAGAGCTGACCTGTCCGGTAATCAAGGCAATGCAGCCGGCCGCCTAGCTACAGTTCACGAGCCAGTTGTCACCCAGTGGGCGGTGCATCCT
CCAGCCCCCGCTCACCCCAGTCTCCTGGACAAAATGGAGAAAGCGCCTCCACAGCCCCAGCACGAGGGCCTCAAGTCCAAGGAGCATCTTCCGCAACAGCCTGCC
GAAGGCAAGACGGCGTCCCGCCGCGTCCCACGCCTCCGGGCTGTGGTCGAGAGCCAGGCCTTCAAGAACATCCTGGTAGACGAGATGGACATGATGCACGCCCGT
GCAGCCACGCTCATCCAAGCCAACTGGAGGGGCTATTGGCTCCGGCAGAAGCTGATTTCCCAGATGATGGCGGCCAAGGCCATCCAGGAGGCCTGGCGGCGCTTC
AACAAGAGACACATCCTTCACTCCAGCAAGTCGTTGGTAAAGAAAACGAGGGCGGAGGAGGGGGACATACCTTATCACGCCCCACAGCAGGTGCGCTTCCAGCAT
CCGGAAGAGAACCGCCTTCTGTCCCCGCCCATCATGGTGAACAAGGAGACCCAGTTCCCTTCCTGTGACAATCTGGTCCTCTGCAGACCCCAGTCGTCCCCCCTC
CTGCAGCCCCCAGCAGCTCAGGGTACCCCAGAGCCCTGTGTGCAGGGTCCTCATGCTGCCAGAGTCCGGGGGCTGGCCTTCCTGCCACACCAGACGGTCACCATC
AGATTTCCCTGCCCAGTGAGTCTGGACGCAAAATGCCAGCCATGCCTGCTGACCAGAACCATCAGAAGCACCTGCCTCGTCCACATAGAGGGTGACTCAGTGAAG
ACCAAACGTGTAAGTGCCCGGACCAACAAAGCCAGGGCTCCGGAGACACCATTGTCCAGAAGGTATGACCAGGCAGTTACGAGACCATCCAGAGCCCAAACCCAG
GGCCCTGTGAAAGCAGAGACCCCCAAAGCCCCCTTCCAGATATGTCCAGGGCCCATGATCACCAAGACTCTACTCCAGACATATCCAGTGGTCTCCGTGACCCTG
CCACAGACATATCCAGCGTCCACGATGACCACCACCCCACCCAAGACTAGCCCAGTTCCCAAAGTAACAATAATCAAGACCCCAGCCCAGATGTATCCGGGGCCC
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>KIAA1683|80726|protein
MTLQGRADLSGNQGNAAGRLATVHEPVVTQWAVHPPAPAHPSLLDKMEKAPPQPQHEGLKSKEHLPQQPAEGKTASRRVPRLRAVVESQAFKNILVDEMDMMHAR
AATLIQANWRGYWLRQKLISQMMAAKAIQEAWRRFNKRHILHSSKSLVKKTRAEEGDIPYHAPQQVRFQHPEENRLLSPPIMVNKETQFPSCDNLVLCRPQSSPL
LQPPAAQGTPEPCVQGPHAARVRGLAFLPHQTVTIRFPCPVSLDAKCQPCLLTRTIRSTCLVHIEGDSVKTKRVSARTNKARAPETPLSRRYDQAVTRPSRAQTQ
GPVKAETPKAPFQICPGPMITKTLLQTYPVVSVTLPQTYPASTMTTTPPKTSPVPKVTIIKTPAQMYPGPTVTKTAPHTCPMPTMTKIQVHPTASRTGTPRQTCP
ATITAKNRPQVSLLASIMKSLPQVCPGPAMAKTPPQMHPVTTPAKNPLQTCLSATMSKTSSQRSPVGVTKPSPQTRLPAMITKTPAQLRSVATILKTLCLASPTV
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MTLQGRADLSGNQGNAAGRLATVHEPVVTQWAVHPPAPAHPSLLDKMEKAPPQPQHEGLKSKEHLPQQPAEGKTASRRVPRLRAVVESQAFKNILVDEMDMMHAR
AATLIQANWRGYWLRQKLISQMMAAKAIQEAWRRFNKRHILHSSKSLVKKTRAEEGDIPYHAPQQVRFQHPEENRLLSPPIMVNKETQFPSCDNLVLCRPQSSPL
LQPPAAQGTPEPCVQGPHAARVRGLAFLPHQTVTIRFPCPVSLDAKCQPCLLTRTIRSTCLVHIEGDSVKTKRVSARTNKARAPETPLSRRYDQAVTRPSRAQTQ
GPVKAETPKAPFQICPGPMITKTLLQTYPVVSVTLPQTYPASTMTTTPPKTSPVPKVTIIKTPAQMYPGPTVTKTAPHTCPMPTMTKIQVHPTASRTGTPRQTCP
ATITAKNRPQVSLLASIMKSLPQVCPGPAMAKTPPQMHPVTTPAKNPLQTCLSATMSKTSSQRSPVGVTKPSPQTRLPAMITKTPAQLRSVATILKTLCLASPTV
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Evidence summary Top
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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) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
McCauley, 2005 | - | microsatellite-based genomic screen | autism | 158 | - | 158 | - | 333 | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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