Gene Overview - PKHD1

Cosmic » Gene » Overview » PKHD1

Overview

This tab shows a graphical representation of the selected gene in GBrowse and a general overview of the information available for the gene. [more details]
Gene name
PKHD1
Gene Id
COSG58580
Synonyms
ARPKD, DKFZp686C01112, FCYT, FLJ46150, TIGM1, CCDS4935.1, Q8TCZ9, Q5VUA3, Q86Z26 ... [more]
... Q8NAW5, ENSG00000170927
Genomic Summary
No.of Samples
Total number of unique samples: 5593
Unique samples with mutations: 287

Genome View

This tab displays the COSMIC Cancer Genome Browser. COSMIC data can be viewed in genomic conext. [more details]

Sequence

This tab shows sequence data for the selected gene. [more details]
cDNA Sequence
ENST00000371117
Protein Sequence
PKHD1
Transcript and Protein Aligned
ENST00000371117+PKHD1

Fusions

This tab shows gene fusions involving the selected gene. [more details]
There are no fusion partners for PKHD1

Studies

This tab shows studies associated with the selected gene. [more details]

References

This tab shows publications associated with the selected gene. [more details]
Reference Title Author Year Journal Status COSMIC Pubmed

Mutation Analysis

Histogram Distribution
histogram image Click to view a histogram of mutations on PKHD1" histogram image Click to view the distribution of mutation types on PKHD1"