CLPTM1L Results

Predicted Protein Structure for CLPTM1L:

HHPRED alignment results:

MODELLER could only predict the structure for amino acids 282-538. The total length of CLPTM1L is 538 amino acids

CLPTM1(Green) and CLPTM1L (Blue)

5xpd (Closest homologous structure)

Effect of gene variants on cleft lip/palate and cancer

CLPTM1L gene variant effect on cleft lip/palate:

Total of 148 plausible CL/P causing variants in ExAC browser, labeled by ethnicity. Note that data may be skewed because of more Non-Finnish European genomes in ExAC browser. Table shows the number of variants that have a filtering allele frequency lower than the maximum credible population allele frequency.

Amino acid mutation caused by each CLPTM1L variant in ExAC:

This data shows that gene variants are relatively random, and aren't clustered around regions.

CLPTM1L gene variant effect on cancer:

Amino acid mutations for 140 cancer patients. (From GDC cancer portal)

Surprisingly, no amino acid mutations in ExAC matched those in the GDC cancer portal.

Conserved Regions in CLPTM1L

c1 = 'FERTVNVSVPKKTRNNGTLYAYIFLHHAG' 85-114

c2 = 'LPWHDGKQVHLVSPLTTYM' 116-134

c3 = 'TVHYLPILFIDQLSNRVKDLM' 206-226

c4 = 'SLQQFGFSEKDADEVKGIFVDTNLY' 261-285

c5 = 'LALTFFVAAFHLLFDFLAFKNDISFWKKKK' 287-316

c6 = 'GVYAFGFLFMLPQLFVNYK' 439-457

c7 = 'KSVAHLPWKAFTYKAFNTFIDD' 459-480

c8 = 'FAFIITMPTSHRLACFRDDVVFL' 482-504

The CLPTM1L gene was run through BLAST, and the top 100 sequences were sent through a multiple sequence alignment to find conserved regions. This was done in BioEdit. To find the conserved region data, obtain the BioEdit text file from my Github: Here. Note that the sequence may be misaligned due to one BLAST hit being 100 amino acids longer. The conserved regions may be numbered incorrectly in BioEdit, but have been numbered correctly in the results.

GDC cancer portal data from 140 patients. 86 mutations led to non-synonymous mutations. Of these, 34 were in conserved regions

Network Analysis of CLPTM1L

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