Evidence Details for ITPKB
Basic Information Top
| Gene Symbol: | ITPKB ( IP3-3KB,IP3K,IP3K-B,IP3KB,PIG37 ) |
|---|---|
| Gene Full Name: | inositol 1,4,5-trisphosphate 3-kinase B |
| Band: | 1q42.12 |
| Quick Links | Entrez ID:3707; OMIM: 147522; Uniprot ID:IP3KB_HUMAN; ENSEMBL ID: ENSG00000143772; HGNC ID: 6179 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ITPKB|3707|nucleotide
ATGGCTGTGTACTGCTATGCGCTCAATAGCCTGGTGATCATGAATAGCGCCAACGAGATGAAGAGCGGCGGCGGCCCGGGGCCCAGTGGCAGCGAGACGCCCCCG
CCCCCGAGGAGGGCAGTGCTGAGCCCCGGCAGCGTTTTCAGCCCCGGGAGAGGCGCCTCTTTCCTCTTCCCCCCAGCCGAGTCGCTGTCCCCCGAGGAGCCCCGG
AGCCCCGGGGGCTGGCGGAGCGGCCGGCGCAGGCTGAATAGTAGCAGCGGCAGTGGCAGCGGCAGCAGCGGCAGTAGCGTGAGCAGCCCAAGTTGGGCTGGTCGC
CTGCGAGGGGACCGGCAGCAGGTGGTGGCAGCCGGTACCCTCTCCCCGCCAGGGCCGGAGGAGGCCAAGAGGAAGCTGCGGATCTTGCAGCGCGAGTTGCAGAAC
GTGCAGGTGAACCAGAAAGTGGGCATGTTTGAGGCGCACATCCAGGCACAGAGCTCCGCCATTCAAGCGCCCCGCAGCCCGCGTTTGGGCAGGGCTCGCTCGCCC
TCCCCGTGCCCCTTCCGCAGCAGCAGTCAGCCCCCTGGAAGGGTCCTGGTTCAGGGCGCCCGGAGCGAGGAACGGAGGACAAAGTCCTGGGGGGAGCAATGTCCA
GAGACTTCAGGAACCGACTCCGGGAGGAAAGGAGGGCCCAGCCTATGCTCCTCGCAGGTGAAGAAAGGAATGCCACCTCTTCCCGGCCGGGCTGCCCCTACAGGA
TCAGAGGCTCAGGGTCCATCCGCTTTTGTAAGGATGGAGAAGGGTATCCCTGCCAGTCCCCGCTGTGGCTCACCCACAGCTATGGAAATTGACAAAAGGGGCTCT
CCTACCCCGGGAACTCGGAGCTGCCTAGCTCCCTCATTGGGGCTGTTCGGAGCTAGCTTAACGATGGCCACGGAAGTGGCAGCGAGAGTTACATCCACTGGGCCA
CACCGTCCACAGGATCTTGCCCTCACTGAGCCGTCTGGGAGAGCCCGTGAGCTTGAGGACCTGCAGCCCCCAGAGGCCCTGGTGGAGAGGCAGGGGCAGTTTCTG
GGCAGTGAGACAAGCCCAGCCCCAGAAAGGGGCGGGCCCCGCGATGGAGAACCCCCTGGGAAGATGGGGAAAGGATATCTGCCCTGTGGCATGCCGGGCTCTGGG
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ATGGCTGTGTACTGCTATGCGCTCAATAGCCTGGTGATCATGAATAGCGCCAACGAGATGAAGAGCGGCGGCGGCCCGGGGCCCAGTGGCAGCGAGACGCCCCCG
CCCCCGAGGAGGGCAGTGCTGAGCCCCGGCAGCGTTTTCAGCCCCGGGAGAGGCGCCTCTTTCCTCTTCCCCCCAGCCGAGTCGCTGTCCCCCGAGGAGCCCCGG
AGCCCCGGGGGCTGGCGGAGCGGCCGGCGCAGGCTGAATAGTAGCAGCGGCAGTGGCAGCGGCAGCAGCGGCAGTAGCGTGAGCAGCCCAAGTTGGGCTGGTCGC
CTGCGAGGGGACCGGCAGCAGGTGGTGGCAGCCGGTACCCTCTCCCCGCCAGGGCCGGAGGAGGCCAAGAGGAAGCTGCGGATCTTGCAGCGCGAGTTGCAGAAC
GTGCAGGTGAACCAGAAAGTGGGCATGTTTGAGGCGCACATCCAGGCACAGAGCTCCGCCATTCAAGCGCCCCGCAGCCCGCGTTTGGGCAGGGCTCGCTCGCCC
TCCCCGTGCCCCTTCCGCAGCAGCAGTCAGCCCCCTGGAAGGGTCCTGGTTCAGGGCGCCCGGAGCGAGGAACGGAGGACAAAGTCCTGGGGGGAGCAATGTCCA
GAGACTTCAGGAACCGACTCCGGGAGGAAAGGAGGGCCCAGCCTATGCTCCTCGCAGGTGAAGAAAGGAATGCCACCTCTTCCCGGCCGGGCTGCCCCTACAGGA
TCAGAGGCTCAGGGTCCATCCGCTTTTGTAAGGATGGAGAAGGGTATCCCTGCCAGTCCCCGCTGTGGCTCACCCACAGCTATGGAAATTGACAAAAGGGGCTCT
CCTACCCCGGGAACTCGGAGCTGCCTAGCTCCCTCATTGGGGCTGTTCGGAGCTAGCTTAACGATGGCCACGGAAGTGGCAGCGAGAGTTACATCCACTGGGCCA
CACCGTCCACAGGATCTTGCCCTCACTGAGCCGTCTGGGAGAGCCCGTGAGCTTGAGGACCTGCAGCCCCCAGAGGCCCTGGTGGAGAGGCAGGGGCAGTTTCTG
GGCAGTGAGACAAGCCCAGCCCCAGAAAGGGGCGGGCCCCGCGATGGAGAACCCCCTGGGAAGATGGGGAAAGGATATCTGCCCTGTGGCATGCCGGGCTCTGGG
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>ITPKB|3707|protein
MAVYCYALNSLVIMNSANEMKSGGGPGPSGSETPPPPRRAVLSPGSVFSPGRGASFLFPPAESLSPEEPRSPGGWRSGRRRLNSSSGSGSGSSGSSVSSPSWAGR
LRGDRQQVVAAGTLSPPGPEEAKRKLRILQRELQNVQVNQKVGMFEAHIQAQSSAIQAPRSPRLGRARSPSPCPFRSSSQPPGRVLVQGARSEERRTKSWGEQCP
ETSGTDSGRKGGPSLCSSQVKKGMPPLPGRAAPTGSEAQGPSAFVRMEKGIPASPRCGSPTAMEIDKRGSPTPGTRSCLAPSLGLFGASLTMATEVAARVTSTGP
HRPQDLALTEPSGRARELEDLQPPEALVERQGQFLGSETSPAPERGGPRDGEPPGKMGKGYLPCGMPGSGEPEVGKRPEETTVSVQSAESSDSLSWSRLPRALAS
VGPEEARSGAPVGGGRWQLSDRVEGGSPTLGLLGGSPSAQPGTGNVEAGIPSGRMLEPLPCWDAAKDLKEPQCPPGDRVGVQPGNSRVWQGTMEKAGLAWTRGTG
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MAVYCYALNSLVIMNSANEMKSGGGPGPSGSETPPPPRRAVLSPGSVFSPGRGASFLFPPAESLSPEEPRSPGGWRSGRRRLNSSSGSGSGSSGSSVSSPSWAGR
LRGDRQQVVAAGTLSPPGPEEAKRKLRILQRELQNVQVNQKVGMFEAHIQAQSSAIQAPRSPRLGRARSPSPCPFRSSSQPPGRVLVQGARSEERRTKSWGEQCP
ETSGTDSGRKGGPSLCSSQVKKGMPPLPGRAAPTGSEAQGPSAFVRMEKGIPASPRCGSPTAMEIDKRGSPTPGTRSCLAPSLGLFGASLTMATEVAARVTSTGP
HRPQDLALTEPSGRARELEDLQPPEALVERQGQFLGSETSPAPERGGPRDGEPPGKMGKGYLPCGMPGSGEPEVGKRPEETTVSVQSAESSDSLSWSRLPRALAS
VGPEEARSGAPVGGGRWQLSDRVEGGSPTLGLLGGSPSAQPGTGNVEAGIPSGRMLEPLPCWDAAKDLKEPQCPPGDRVGVQPGNSRVWQGTMEKAGLAWTRGTG
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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 (1) | 1 (1) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | |  | autism | 115 | - | 115 | - | - | - | - |
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 | ||||||||||
| Maussion, 2008_1 | AGRE | SNPlex oligoligation assays | 116 | - (-) | | | 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 Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.06587 | Up | 0.0239345 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.