Evidence Details for HNF1B
Basic Information Top
| Gene Symbol: | HNF1B ( FJHN,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,TCF2,VHNF1 ) |
|---|---|
| Gene Full Name: | HNF1 homeobox B |
| Band: | 17q12 |
| Quick Links | Entrez ID:6928; OMIM: 189907; Uniprot ID:HNF1B_HUMAN; ENSEMBL ID: ENSG00000108753; HGNC ID: 11630 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HNF1B|6928|nucleotide
ATGGTGTCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGGGTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCA
TCCCCGAACTTCGGGGTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCGGTCTTCCATACTCTCACCAACGGCCACGCC
AAGGGCCGCTTGTCCGGCGACGAGGGCTCCGAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACCGAGGAGGCGGCGGAG
CAGCGGGCGGAGGTGGACCGGATGCTCAGTGAGGACCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCCAGAGGGAGGTGGTC
GATGTCACCGGCCTGAACCAGTCGCACCTCTCCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAG
CAACGAGAGATCCTCCGACAATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGATCAGCTGCTGTTTCTCTTTCCAGAGTTCAGT
CAACAGAGCCATGGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGTTCAAATGGGGGCCCGCGTCCCAGCAAATC
TTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAACAGGGCAGAATGTTTGCAGCGAGGGGTGTCCCCC
TCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAACCGCAGGAAGGAGGAGGCATTCCGGCAAAAGCTGGCCATG
GACGCCTATAGCTCCAACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCCACCACCAGCCCAGCTCCTCTCCTCCAAACAAGCTGTCAGGAGTG
CGCTACAGCCAGCAGGGAAACAATGAGATCACTTCCTCCTCAACAATCAGTCACCATGGCAACAGCGCCATGGTGACCAGCCAGTCGGTTTTACAGCAAGTCTCC
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ATGGTGTCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGGGTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCA
TCCCCGAACTTCGGGGTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCGGTCTTCCATACTCTCACCAACGGCCACGCC
AAGGGCCGCTTGTCCGGCGACGAGGGCTCCGAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACCGAGGAGGCGGCGGAG
CAGCGGGCGGAGGTGGACCGGATGCTCAGTGAGGACCCTTGGAGGGCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCCAGAGGGAGGTGGTC
GATGTCACCGGCCTGAACCAGTCGCACCTCTCCCAGCATCTCAACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAG
CAACGAGAGATCCTCCGACAATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGATCAGCTGCTGTTTCTCTTTCCAGAGTTCAGT
CAACAGAGCCATGGGCCTGGGCAGTCCGATGATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGTTCAAATGGGGGCCCGCGTCCCAGCAAATC
TTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAGAGAGAGGCCTTAGTGGAGGAATGCAACAGGGCAGAATGTTTGCAGCGAGGGGTGTCCCCC
TCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTTGCAAACCGCAGGAAGGAGGAGGCATTCCGGCAAAAGCTGGCCATG
GACGCCTATAGCTCCAACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCCACCACCAGCCCAGCTCCTCTCCTCCAAACAAGCTGTCAGGAGTG
CGCTACAGCCAGCAGGGAAACAATGAGATCACTTCCTCCTCAACAATCAGTCACCATGGCAACAGCGCCATGGTGACCAGCCAGTCGGTTTTACAGCAAGTCTCC
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>HNF1B|6928|protein
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAE
QRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFS
QQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAM
DAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIH
SLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHT
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MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAE
QRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFS
QQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAM
DAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIH
SLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHT
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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) | 1 (4) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (5) |
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 | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Roberts JL, 2014 | - | aCGH;FISH | - | - | autism | - | - | - | - | 1 | - | 1 |
| Kanduri C, 2016 | Finnish | - |  | | autism | 83 | - | - | - | 257 | 288 | 545 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | |  | - | AD | 22 (13.64%) |
1.19 | Up | 0.113 | |
| ||||||||||||
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.