Mutation Overview - PIP5KL1 - p.R153L(Substitution - Missense)

Cosmic » Mutation » Overview » PIP5KL1 » p.R153L / c.458G>T

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
Q5T9C9 G3DSA:3.30.800.10 G3DSA:3.30.800.10 103 205 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :G3DSA:3.30.800.10( 103- 205 )
Q5T9C9 PIP5K PIP5K 132 391 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :PIP5K( 132- 391 )
Q5T9C9 PIPK PIPK 36 393 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :PIPK( 36- 393 )
Q5T9C9 PTHR23086:SF1 PTHR23086:SF1 1 394 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :PTHR23086:SF1( 1- 394 )
Q5T9C9 PTHR23086 PTHR23086 1 394 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :PTHR23086( 1- 394 )
Q5T9C9 SSF56104 SSF56104 47 394 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :SSF56104( 47- 394 )
Q5T9C9 UniProt:curator Phosphatidylinositol 4-phosphate 5- kinase-like protein 1 1 394 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :Phosphatidylinositol 4-phosphate 5- kinase-like protein 1( 1- 394 )
Q5T9C9 UniProt:curator PIPK 36 393 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :PIPK( 36- 393 )
Q5T9C9 UniProt:curator UNIPROTKB_Q5T9C9_VAR_SEQ_1_203 1 203 Overlap 100.00
PIP5KL1 ............................................................ 60 Q5T9C9 MAAPSPGPREVLAPSPEAGCRAVTSSRRGLLWRLRDKQSRLGLFEISPGHELHGMTCMMQ 60 PIP5KL1 ............................................................ 120 Q5T9C9 AGLWAATQVSMDHPPTGPPSRDDFSEVLTQVHEGFELGTLAGPAFAWLRRSLGLAEEDYQ 120 PIP5KL1 ............................................................ 180 Q5T9C9 AALGPGGPYLQFLSTSKSKASFFLSHDQRFFLKTQGRREVQALLAHLPRYVQHLQRHPHS 180 PIP5KL1 .......................MQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 Q5T9C9 LLARLLGVHSLRVDRGKKTYFIVMQSVFYPAGRISERYDIKGCEVSRWVDPAPEGSPLVL 240 PIP5KL1 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 Q5T9C9 VLKDLNFQGKTINLGPQRSWFLRQMELDTTFLRELNVLDYSLLIAFQRLHEDERGPGSSL 300 PIP5KL1 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 Q5T9C9 IFRTARSVQGAQSPEESRAQNRRLLPDAPNALHILDGPEQRYFLGVVDLATVYGLRKRLE 360 PIP5KL1 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE Q5T9C9 HLWKTLRYPGRTFSTVSPARYARRLCQWVEAHTE

More details

Wildtype Residue : R Mutant Position : 356 Mutant label : p.R153L Feature Name :UNIPROTKB_Q5T9C9_VAR_SEQ_1_203( 1- 203 )

Pathways Affected

This tab displays a table of pathways affected by the mutation [more details]
Source Pathways
Reactome
WikiPathway Regulation of Actin Cytoskeleton

References

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