BIVM-ERCC5 (BIVM-ERCC5 readthrough)

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Gene miRNA Other IDs Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 100533467
• Gene name: BIVM-ERCC5 readthrough
• Gene symbol: BIVM-ERCC5
• Synonyms (NCBI Gene): ERCC5-202
• Chromosome: 13
• Chromosome location: 13q33.1
• Summary: This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) gene

miRNA Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT821725	hsa-miR-1185	CLIP-seq
MIRT821726	hsa-miR-1273c	CLIP-seq
MIRT821727	hsa-miR-3125	CLIP-seq
MIRT821728	hsa-miR-3129-3p	CLIP-seq
MIRT821729	hsa-miR-3679-5p	CLIP-seq
MIRT821730	hsa-miR-3683	CLIP-seq
MIRT821731	hsa-miR-3916	CLIP-seq
MIRT821732	hsa-miR-3976	CLIP-seq
MIRT821733	hsa-miR-450a	CLIP-seq
MIRT821734	hsa-miR-4687-3p	CLIP-seq
MIRT821735	hsa-miR-4760-3p	CLIP-seq
MIRT821736	hsa-miR-4775	CLIP-seq
MIRT821737	hsa-miR-520d-5p	CLIP-seq
MIRT821738	hsa-miR-524-5p	CLIP-seq
MIRT821739	hsa-miR-556-3p	CLIP-seq
MIRT821740	hsa-miR-590-3p	CLIP-seq
MIRT821741	hsa-miR-664	CLIP-seq
MIRT821742	hsa-miR-877	CLIP-seq
MIRT821743	hsa-miR-944	CLIP-seq

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Interactions View interactions

Pathways

KEGG Pathway:

Nucleotide excision repair

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CEREBELLAR ATROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROOCULOFACIOSKELETAL SYNDROME 3	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSARTHRIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNEUROPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX	—	Disgenet	22745795	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, GROUP G	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, TYPE G-COCKAYNE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	31026346		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrooculofacioskeletal Syndrome 3	Cerebrooculofacioskeletal Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31026346		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum	Xeroderma Pigmentosum	CLINVAR_DG	7951246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum and Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	CLINVAR_DG	15082767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Type G-Cockayne Syndrome	Xeroderma Pigmentosum	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ERCC5 8 shared diseasesCerebellar atrophy, Spastic paraplegia, Cerebrooculofacioskeletal syndrome, Congenital pes cavus, Dysarthria, Polyneuropathy, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome 1 shared pathwayNucleotide excision repair 8 shared evidence sourcesDisgenet (Cerebellar atrophy), Disgenet (Spastic paraplegia), Disgenet (Cerebrooculofacioskeletal syndrome), Disgenet (Congenital pes cavus), Disgenet (Dysarthria), Disgenet (Polyneuropathy), Disgenet (Xeroderma pigmentosum), Disgenet (Xeroderma pigmentosum-cockayne syndrome) Related via 8 shared diseases including Cerebellar atrophy, Spastic paraplegia — evidence mostly Disgenet. SMC1A 5 shared diseasesCerebellar atrophy, Spastic paraplegia, Congenital pes cavus, Dysarthria, Polyneuropathy 5 shared evidence sourcesDisgenet (Cerebellar atrophy), Disgenet (Spastic paraplegia), Disgenet (Congenital pes cavus), Disgenet (Dysarthria), Disgenet (Polyneuropathy) Related via 5 shared diseases including Cerebellar atrophy, Spastic paraplegia — evidence mostly Disgenet. ZGRF1 2 shared diseasesSpastic paraplegia, Dysarthria 2 shared evidence sourcesDisgenet (Spastic paraplegia), Disgenet (Dysarthria) Related via 2 shared diseases including Spastic paraplegia, Dysarthria — evidence mostly Disgenet. GBA2 2 shared diseasesSpastic paraplegia, Polyneuropathy 2 shared evidence sourcesDisgenet (Spastic paraplegia), Disgenet (Polyneuropathy) Related via 2 shared diseases including Spastic paraplegia, Polyneuropathy — evidence mostly Disgenet. FA2H 2 shared diseasesCerebellar atrophy, Spastic paraplegia 2 shared evidence sourcesDisgenet (Cerebellar atrophy), Disgenet (Spastic paraplegia) Related via 2 shared diseases including Cerebellar atrophy, Spastic paraplegia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ERCC5	8	["Cerebellar atrophy","Spastic paraplegia","Cerebrooculofacioskeletal syndrome","Congenital pes cavus","Dysarthria","Polyneuropathy","Xeroderma pigmentosum","Xeroderma pigmentosum-cockayne syndrome"]	1	["Nucleotide excision repair"]	8	["Disgenet (Cerebellar atrophy)","Disgenet (Spastic paraplegia)","Disgenet (Cerebrooculofacioskeletal syndrome)","Disgenet (Congenital pes cavus)","Disgenet (Dysarthria)","Disgenet (Polyneuropathy)","Disgenet (Xeroderma pigmentosum)","Disgenet (Xeroderma pigmentosum-cockayne syndrome)"]
SMC1A	5	["Cerebellar atrophy","Spastic paraplegia","Congenital pes cavus","Dysarthria","Polyneuropathy"]	0	[]	5	["Disgenet (Cerebellar atrophy)","Disgenet (Spastic paraplegia)","Disgenet (Congenital pes cavus)","Disgenet (Dysarthria)","Disgenet (Polyneuropathy)"]
ZGRF1	2	["Spastic paraplegia","Dysarthria"]	0	[]	2	["Disgenet (Spastic paraplegia)","Disgenet (Dysarthria)"]
GBA2	2	["Spastic paraplegia","Polyneuropathy"]	0	[]	2	["Disgenet (Spastic paraplegia)","Disgenet (Polyneuropathy)"]
FA2H	2	["Cerebellar atrophy","Spastic paraplegia"]	0	[]	2	["Disgenet (Cerebellar atrophy)","Disgenet (Spastic paraplegia)"]

Diseases Linked via Similar Genes

Intellectual developmental disorder Linked via 2 of 5 related genesSMC1A, GBA2 Neurodevelopmental disorder Linked via 2 of 5 related genesSMC1A, GBA2 Hereditary spastic paraplegia Linked via 2 of 5 related genesGBA2, FA2H Colorectal neoplasms Linked via 1 of 5 related genesERCC5 Genetic predisposition to disease Linked via 1 of 5 related genesERCC5

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intellectual developmental disorder	2	["SMC1A","GBA2"]
Neurodevelopmental disorder	2	["SMC1A","GBA2"]
Hereditary spastic paraplegia	2	["GBA2","FA2H"]
Colorectal neoplasms	1	["ERCC5"]
Genetic predisposition to disease	1	["ERCC5"]