MBD4

methyl-CpG binding domain 4, DNA glycosylase

Explore in graph →CI-GENE-00012163HGNC:6919 ENSG00000129071 NCBI 8930 CIViC Approved

Curated evidence

Clinical evidence (1)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–1 of 1 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
MBD4 Frameshift1
PD1 Inhibitor	Uveal Melanoma	Predictive	C	Supports Sensitivity Response	4	submitted	EID7596 In a cohort of 42 metastatic uveal melanoma patients treated with PD-1 inhibition, only one responded. A germline frameshift mutation in MBD4 was identified in this responder patient, with somatic los… (full text at CIViC) PMID 29760383 · Rodrigues et al., 2018 · Open in CIViC	civic

Cohorts

Alteration frequency by cohort (1)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved1 cohort row · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Urothelial Carcinoma (Cornell/Trento, Nat Gen 2016) blca_cornell_2016	Bladder Urothelial Carcinoma	Ssm	16

Literature

Linked publications (0)

Data not yet available

No publication linked to this gene yet.