Melanoma, cutaneous malignant, susceptibility to, 6

Summary

Melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) is a cancer with 1 cohort gene.

At a glance

• Classification: Cancer
• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	melanoma, cutaneous malignant, susceptibility to, 6
Mondo ID	MONDO:0013510
OMIM	613972
UMLS	C3151417
MedGen	462767
GARD	0027848
Is cancer (heuristic)	yes

Also known as: CMM6 · melanoma, cutaneous malignant, 6 · melanoma, cutaneous malignant, susceptibility to, 6 · melanoma, cutaneous malignant, susceptibility to, type 6

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › susceptibility to familial cutaneous melanoma › melanoma, cutaneous malignant, susceptibility to, 6

Related subtypes (9): melanoma, cutaneous malignant, susceptibility to, 1, melanoma, cutaneous malignant, susceptibility to, 2, melanoma, cutaneous malignant, susceptibility to, 4, melanoma, cutaneous malignant, susceptibility to, 3, melanoma, cutaneous malignant, susceptibility to, 7, melanoma, cutaneous malignant, susceptibility to, 5, melanoma, cutaneous malignant, susceptibility to, 8, melanoma, cutaneous malignant, susceptibility to, 9, tumor predisposition syndrome 3

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
8944	NM_005432.4(XRCC3):c.722C>T (p.Thr241Met)	KLC1	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
KLC1	HGNC:6387	ENSG00000126214	Q07866	Kinesin light chain 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KLC1	Kinesin light chain 1	Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KLC1	Other/Unknown	no		Kinesin_light, TPR-like_helical_dom_sf, Kinesin_light_repeat

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cerebellar hemisphere	1
right frontal lobe	1
right hemisphere of cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KLC1	294	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, right frontal lobe

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KLC1	3,322

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KLC1	Q07866	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 20. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
RHO GTPases activate KTN1	1	1038.2×	0.019	KLC1
Signaling by ALK in cancer	1	271.9×	0.027	KLC1
Kinesins	1	178.4×	0.027	KLC1
Signaling by ALK fusions and activated point mutants	1	150.3×	0.027	KLC1
Golgi-to-ER retrograde transport	1	132.8×	0.027	KLC1
COPI-dependent Golgi-to-ER retrograde traffic	1	110.9×	0.027	KLC1
Intra-Golgi and retrograde Golgi-to-ER traffic	1	104.8×	0.027	KLC1
MHC class II antigen presentation	1	89.2×	0.028	KLC1
RHO GTPase Effectors	1	68.0×	0.030	KLC1
Factors involved in megakaryocyte development and platelet production	1	66.4×	0.030	KLC1
Diseases of signal transduction by growth factor receptors and second messengers	1	56.8×	0.032	KLC1
Membrane Trafficking	1	37.1×	0.037	KLC1
Hemostasis	1	36.0×	0.037	KLC1
Vesicle-mediated transport	1	34.8×	0.037	KLC1
Signaling by Rho GTPases	1	34.2×	0.037	KLC1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	33.5×	0.037	KLC1
Adaptive Immune System	1	29.8×	0.039	KLC1
Disease	1	13.1×	0.081	KLC1
Immune System	1	13.0×	0.081	KLC1
Signal Transduction	1	10.2×	0.098	KLC1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
stress granule disassembly	1	2407.4×	0.001	KLC1
microtubule-based movement	1	295.6×	0.005	KLC1
cell adhesion	1	37.5×	0.027	KLC1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KLC1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
KLC1	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	KLC1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
KLC1	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.