Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	100527963
Gene name	PMF1-BGLAP readthrough
Gene symbol	PMF1-BGLAP
Synonyms (NCBI Gene)	PMF-1PMF1
Chromosome	1
Chromosome location	1q22
Summary	This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript

6 Show/Hide all (6)

miRTarBase ID	miRNA	Experiments
MIRT1244406	hsa-miR-3170	CLIP-seq
MIRT1244407	hsa-miR-4468	CLIP-seq
MIRT2456755	hsa-miR-3125	CLIP-seq
MIRT2456756	hsa-miR-3916	CLIP-seq
MIRT2456757	hsa-miR-4271	CLIP-seq
MIRT2456758	hsa-miR-4725-3p	CLIP-seq

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Interactions View interactions

Reactome Pathway
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
BREAST CANCER	—	GWAS catalog	37636041	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	38671320	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE	—	GWAS catalog	24656865	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	38671320	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	37684235	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	37842648	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	29531354, 36180795	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	29531354	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19088041, 22682992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	19088041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19088041, 22682992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	37787451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	31430377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19088041, 22682992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22682992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36958462	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PMF1	5	["Clear cell renal cell carcinoma","Intracerebral hemorrhage","Kidney cancer","Myeloproliferative disorder","Small vessel stroke"]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	6	["GWAS catalog (Clear cell renal cell carcinoma)","GWAS catalog (Intracerebral hemorrhage)","GWAS catalog (Kidney cancer)","GWAS catalog (Myeloproliferative disorder)","GWAS catalog (Small vessel stroke)","GWAS catalog (Stroke)"]
INCENP	2	["Clear cell renal cell carcinoma","Kidney cancer"]	6	["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]	2	["GWAS catalog (Clear cell renal cell carcinoma)","GWAS catalog (Kidney cancer)"]
FCAMR	2	["Clear cell renal cell carcinoma","Kidney cancer"]	0	[]	2	["GWAS catalog (Clear cell renal cell carcinoma)","GWAS catalog (Kidney cancer)"]
DPF3	2	["Clear cell renal cell carcinoma","Kidney cancer"]	0	[]	2	["GWAS catalog (Clear cell renal cell carcinoma)","GWAS catalog (Kidney cancer)"]
DCAF12L1	2	["Clear cell renal cell carcinoma","Kidney cancer"]	0	[]	2	["GWAS catalog (Clear cell renal cell carcinoma)","GWAS catalog (Kidney cancer)"]

PMF1-BGLAP (PMF1-BGLAP readthrough)

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