Gene

MAMLD1

mastermind like domain containing 1

Explore in graph →CI-GENE-00011911HGNC:2568 ENSG00000013619 NCBI 10046 Cancer geneApproved

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
MAMLD1 Fusion1
(diagnostic)	Supratentorial Ependymoma YAP1 Fusion-Positive	Diagnostic	B	Supports Positive	4	accepted	EID11888 A total of 15 pediatric patients with supratentorial ependymomas harboring YAP1::MAMLD1 fusions were reported. In all 15 cases, YAP1::MAMLD1 fusions were confirmed by RT-PCR and sequencing. In the ma… (full text at CIViC) PMID 30246434 · Andreiuolo et al., 2019 · Open in CIViC	civic

Cohorts

Alteration frequency by cohort (4)

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

cbioportalObserved4 cohort rows · 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
Uterine Carcinosarcoma (TCGA, Firehose Legacy) ucs_tcga	Uterine Malignant Mixed Mesodermal (Mullerian) Tumor	Ssm	4	57	7%

Literature

Linked publications (1)

25 per page, newest first.

pubmedPublishedShowing 1–1 of 1 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features.
· Brain Pathol · 2019 · PMID 30246434 · validated civic_curation pubmed