HHIP

Hedgehog interacting protein Q96QV1 HHIP_HUMAN
Protein Coding Chr 4 4q31.21 Swiss-Prot reviewed Entrez 64399
Mutations
761
CL 102 · Tissue 650
Samples
518
CL 87 · Tissue 423
Peptides
403
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations761102650
Samples51887423
Peptides40363353

Function

HHIP · Hedgehog interacting protein

This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000296575 Q96QV1 549 388
ENST00000434550 Q96QV1-2 212 155

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q31.21
Entrez ID
Aliases
HIP

Recurrent Mutations

All 388 amino-acid changes on canonical ENST00000296575 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in HHIP · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HHIP – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Chordoma
0/7 0%
1/13 8%
Endometrial Carcinoma
5/42 12%
26/612 4%
Melanoma
9/210 4%
83/1899 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Other Solid Cancers
0/94 0%
35/1515 2%
Squamous Cell Lung Carcinoma
1/57 2%
17/810 2%
Colorectal Carcinoma
17/143 12%
50/3239 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastric Carcinoma
1/74 1%
32/1809 2%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Non-Small Cell Lung Carcinoma
7/304 2%
16/1390 1%
Bladder Carcinoma
1/58 2%
12/956 1%
Ovarian Carcinoma
6/109 6%
7/998 1%
Plasma Cell Myeloma
2/44 5%
2/305 1%
Hepatocellular Carcinoma
0/46 0%
25/2210 1%
Cervical Carcinoma
2/35 6%
3/422 1%
Germ Cell Tumour
2/25 8%
0/169 0%
Glioblastoma
1/98 1%
0/0 0%
Rhabdomyosarcoma
2/33 6%
0/171 0%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
22/2550 1%
Head and Neck Carcinoma
0/85 0%
13/1574 1%
Thyroid Gland Carcinoma
5/45 11%
6/1592 0%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
13/2534 1%
Other Sarcomas
2/69 3%
3/699 0%
Biliary Tract Carcinoma
2/54 4%
4/950 0%
Non-Cancerous
1/104 1%
4/830 0%
Prostate Carcinoma
2/13 15%
9/2105 0%

Mutation Distribution

Where HHIP is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HHIP were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 761 mutations in HHIP

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide