TOP6BL (TOP6B like initiator of meiotic double strand breaks)

Gene

• Entrez ID: 79703
• Gene name: TOP6B like initiator of meiotic double strand breaks
• Gene symbol: TOP6BL
• Synonyms (NCBI Gene): C11orf80, HYDM4, TOPOVIBL
• Chromosome: 11
• Chromosome location: 11q13.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs779402951	->T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT569444	hsa-miR-7108-3p	PAR-CLIP	20371350
MIRT569443	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT569444	hsa-miR-7108-3p	PAR-CLIP	20371350
MIRT569443	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT830458	hsa-miR-1262	CLIP-seq
MIRT830459	hsa-miR-1321	CLIP-seq
MIRT830460	hsa-miR-1915	CLIP-seq
MIRT830461	hsa-miR-3689d	CLIP-seq
MIRT830462	hsa-miR-4270	CLIP-seq
MIRT830463	hsa-miR-4441	CLIP-seq
MIRT830464	hsa-miR-4701-3p	CLIP-seq
MIRT830465	hsa-miR-4726-3p	CLIP-seq
MIRT830466	hsa-miR-4739	CLIP-seq
MIRT830467	hsa-miR-4756-5p	CLIP-seq
MIRT2384968	hsa-miR-1972	CLIP-seq
MIRT2384969	hsa-miR-3648	CLIP-seq
MIRT2384970	hsa-miR-4479	CLIP-seq
MIRT2384971	hsa-miR-4650-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005694	Component	Chromosome	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007131	Process	Reciprocal meiotic recombination	ISS
GO:0042138	Process	Meiotic DNA double-strand break formation	IBA
GO:0042138	Process	Meiotic DNA double-strand break formation	IEA
GO:0042138	Process	Meiotic DNA double-strand break formation	ISS
GO:0051321	Process	Meiotic cell cycle	IEA

Other IDs

• MIM: 616109
• HGNC: 26197
• e!Ensembl: ENSG00000173715

Protein

• UniProt ID: Q8N6T0
• Protein name: Type 2 DNA topoisomerase 6 subunit B-like (TOP6B like initiator of meiotic double strand breaks) (Type 2 DNA topoisomerase VI subunit B-like) (TOPOVIBL)
• Protein function: [Isoform 3]: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes r
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15091	DUF4554	120 → 571	Domain of unknown function (DUF4554)	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in lung, spleen,colon and in skeletal muscle. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401). {ECO:0000269|PubMed:18160775, ECO:0000269|PubMed:30388401}.
• Sequence:

  MEGTAVAVFEILRFLIIHWKCDIDVSKGALLEGQLVISIEGLNSKHQANALHCVTTVASA
  GSLFGGMVLKKFLKEIQSILPGISAKLTWTSEEGSYSQDMTGVTPFQMIFEVDEKPRTLM
  TDCLVIKHFLRKIIMVHPKVRFHFSVKVNGILSTEIFGVENEPTLNLGNGIALLVDSQHY
  VRPNFGTIESHCSRIHPVLGHPVMLFIPEDVAGMDLLGELILTPAAALCPSPKVSSNQLN
  RISSVSIFLYGPLGLPLILSTWEQPMTTFFKDTSSLVDWKKYHLCMIPNLDLNLDRDLVL
  PDVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILV
  ESHSVVQGSIQFTVDKVLEQHHQAAKAQQKLQASLSVAVNSIMSILTGSTRSSFRKMCLQ
  TLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLEL
  LADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAH
  GRALAPGRASLGSRLEDVLWLQEVSNLSEWLSPSPGP

• Sequence length: 577

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hydatidiform mole, recurrent, 4	Likely pathogenic	rs2495317090	RCV003476890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE HYDATIDIFORM MOLE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOP6BL-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	21926972, 28115744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	21926972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete hydatidiform mole	Complete Hydatidiform Mole	ORPHANET_DG	30388401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete hydatidiform mole	Complete Hydatidiform Mole	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34674573	Associate	★☆☆☆☆ Found in Text Mining only