Mutation Overview - HNF1A - p.P291fs*51(Deletion - Frameshift)

Cosmic » Mutation » Overview » HNF1A » p.P291fs*51 / c.872delC

Overview

This tab shows an overview of the mutation data [more details]
  • Description:
  • Mutation id:
  • AA Mutation:
  • CDS Mutation:
  • NCBI 36:
  • GRCH 37:
  • Cancer Genome Browser:
  • CDD:
  • Ever confirmed somatic:

Tissue Distribution

This tab displays the distribution of mutated samples and tissue types. [more details]

Samples

This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene Name Transcript Primary Tissue Histology Pubmed Id Zygosity Somatic Status

Protein features

This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
P20823 HNF-1B_C HNF-1B_C 282 541 Overlap 100.00
HNF1A MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 P20823 MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 HNF1A PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 P20823 PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 HNF1A SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 P20823 SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 HNF1A GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 P20823 GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 HNF1A CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 P20823 CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 HNF1A AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 P20823 AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 HNF1A SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 P20823 SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 HNF1A SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 P20823 SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 HNF1A QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 P20823 QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 HNF1A QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 P20823 QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 HNF1A SDSSNGQSHLLPSNHSVIETFISTQMASSSQ P20823 SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

More details

Wildtype Residue : P Mutant Position : 291 Mutant label : p.P291fs*51 Feature Name :HNF-1B_C( 282- 541 )
P20823 PTHR11568:SF1 PTHR11568:SF1 2 590 Overlap 100.00
HNF1A MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 P20823 MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 HNF1A PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 P20823 PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 HNF1A SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 P20823 SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 HNF1A GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 P20823 GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 HNF1A CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 P20823 CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 HNF1A AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 P20823 AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 HNF1A SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 P20823 SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 HNF1A SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 P20823 SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 HNF1A QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 P20823 QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 HNF1A QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 P20823 QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 HNF1A SDSSNGQSHLLPSNHSVIETFISTQMASSSQ P20823 SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

More details

Wildtype Residue : P Mutant Position : 291 Mutant label : p.P291fs*51 Feature Name :PTHR11568:SF1( 2- 590 )
P20823 PTHR11568 PTHR11568 2 590 Overlap 100.00
HNF1A MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 P20823 MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 HNF1A PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 P20823 PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 HNF1A SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 P20823 SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 HNF1A GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 P20823 GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 HNF1A CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 P20823 CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 HNF1A AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 P20823 AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 HNF1A SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 P20823 SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 HNF1A SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 P20823 SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 HNF1A QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 P20823 QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 HNF1A QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 P20823 QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 HNF1A SDSSNGQSHLLPSNHSVIETFISTQMASSSQ P20823 SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

More details

Wildtype Residue : P Mutant Position : 291 Mutant label : p.P291fs*51 Feature Name :PTHR11568( 2- 590 )
P20823 UniProt:curator Hepatocyte nuclear factor 1-alpha 1 631 Overlap 100.00
HNF1A MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 P20823 MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL 60 HNF1A PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 P20823 PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK 120 HNF1A SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 P20823 SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA 180 HNF1A GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 P20823 GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE 240 HNF1A CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 P20823 CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP 300 HNF1A AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 P20823 AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH 360 HNF1A SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 P20823 SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA 420 HNF1A SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 P20823 SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV 480 HNF1A QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 P20823 QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK 540 HNF1A QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 P20823 QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS 600 HNF1A SDSSNGQSHLLPSNHSVIETFISTQMASSSQ P20823 SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

More details

Wildtype Residue : P Mutant Position : 291 Mutant label : p.P291fs*51 Feature Name :Hepatocyte nuclear factor 1-alpha( 1- 631 )

Pathways Affected

This tab displays a table of pathways affected by the mutation [more details]
Source Pathways
Reactome
WikiPathway Adipogenesis
WikiPathway IL-6 Signaling Pathway

References

This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed