Mutation Overview - ENPP4 - p.P313L(Substitution - Missense)

Cosmic » Mutation » Overview » ENPP4 » p.P313L / c.938C>T

Overview

This tab shows an overview of the mutation data [more details]
  • Description:
  • Mutation id:
  • AA Mutation:
  • CDS Mutation:
  • GRCH 37:
  • Cancer Genome Browser:
  • CDD:
  • Homologene:
  • 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
Q9Y6X5 Phosphodiest Phosphodiest 28 339 Overlap 100.00
ENPP4 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 Q9Y6X5 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 ENPP4 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 Q9Y6X5 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 ENPP4 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 Q9Y6X5 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 ENPP4 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 Q9Y6X5 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 ENPP4 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 Q9Y6X5 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 ENPP4 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 Q9Y6X5 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 ENPP4 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 Q9Y6X5 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 ENPP4 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG Q9Y6X5 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG

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Wildtype Residue : P Mutant Position : 313 Mutant label : p.P313L Feature Name :Phosphodiest( 28- 339 )
Q9Y6X5 PTHR10151:SF16 PTHR10151:SF16 1 452 Overlap 100.00
ENPP4 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 Q9Y6X5 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 ENPP4 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 Q9Y6X5 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 ENPP4 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 Q9Y6X5 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 ENPP4 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 Q9Y6X5 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 ENPP4 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 Q9Y6X5 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 ENPP4 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 Q9Y6X5 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 ENPP4 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 Q9Y6X5 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 ENPP4 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG Q9Y6X5 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG

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Wildtype Residue : P Mutant Position : 313 Mutant label : p.P313L Feature Name :PTHR10151:SF16( 1- 452 )
Q9Y6X5 PTHR10151 PTHR10151 1 452 Overlap 100.00
ENPP4 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 Q9Y6X5 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 ENPP4 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 Q9Y6X5 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 ENPP4 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 Q9Y6X5 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 ENPP4 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 Q9Y6X5 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 ENPP4 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 Q9Y6X5 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 ENPP4 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 Q9Y6X5 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 ENPP4 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 Q9Y6X5 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 ENPP4 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG Q9Y6X5 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG

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Wildtype Residue : P Mutant Position : 313 Mutant label : p.P313L Feature Name :PTHR10151( 1- 452 )
Q9Y6X5 Alkaline_phosphatase_core Alkaline_phosphatase_core 11 379 Overlap 100.00
ENPP4 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 Q9Y6X5 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 ENPP4 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 Q9Y6X5 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 ENPP4 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 Q9Y6X5 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 ENPP4 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 Q9Y6X5 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 ENPP4 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 Q9Y6X5 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 ENPP4 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 Q9Y6X5 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 ENPP4 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 Q9Y6X5 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 ENPP4 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG Q9Y6X5 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG

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Wildtype Residue : P Mutant Position : 313 Mutant label : p.P313L Feature Name :Alkaline_phosphatase_core( 11- 379 )
Q9Y6X5 UniProt:curator Ectonucleotide pyrophosphatase/phosphodiesterase family member 4 16 453 Overlap 100.00
ENPP4 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 Q9Y6X5 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 ENPP4 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 Q9Y6X5 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 ENPP4 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 Q9Y6X5 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 ENPP4 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 Q9Y6X5 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 ENPP4 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 Q9Y6X5 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 ENPP4 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 Q9Y6X5 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 ENPP4 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 Q9Y6X5 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 ENPP4 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG Q9Y6X5 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG

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Wildtype Residue : P Mutant Position : 313 Mutant label : p.P313L Feature Name :Ectonucleotide pyrophosphatase/phosphodiesterase family member 4( 16- 453 )
Q9Y6X5 UniProt:curator Extracellular 16 407 Overlap 100.00
ENPP4 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 Q9Y6X5 MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVE 60 ENPP4 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 Q9Y6X5 HVKNVFITKTFPNHYSIVTGLYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIW 120 ENPP4 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 Q9Y6X5 VTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSFEERLNNITMWLNNSNPPVTF 180 ENPP4 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 Q9Y6X5 ATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM 240 ENPP4 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 Q9Y6X5 TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIP 300 ENPP4 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 Q9Y6X5 NRFYYQHNDRIQPIILVADEGWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGY 360 ENPP4 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 Q9Y6X5 KHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQWCINLPEAIAIVIGSLLVLTM 420 ENPP4 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG Q9Y6X5 LTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG

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Wildtype Residue : P Mutant Position : 313 Mutant label : p.P313L Feature Name :Extracellular( 16- 407 )

References

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