THAP9 (THAP domain containing 9)

Gene

• Entrez ID: 79725
• Gene name: THAP domain containing 9
• Gene symbol: THAP9
• Synonyms (NCBI Gene): hTh9
• Chromosome: 4
• Chromosome location: 4q21.22

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048719	hsa-miR-96-5p	CLASH	23622248
MIRT1422752	hsa-miR-1193	CLIP-seq
MIRT1422753	hsa-miR-298	CLIP-seq
MIRT1422754	hsa-miR-3919	CLIP-seq
MIRT1422755	hsa-miR-3944-5p	CLIP-seq
MIRT1422756	hsa-miR-3973	CLIP-seq
MIRT1422757	hsa-miR-4756-3p	CLIP-seq
MIRT1422758	hsa-miR-518a-5p	CLIP-seq
MIRT1422759	hsa-miR-520g	CLIP-seq
MIRT1422760	hsa-miR-520h	CLIP-seq
MIRT1422761	hsa-miR-527	CLIP-seq
MIRT2126811	hsa-miR-2909	CLIP-seq
MIRT2126812	hsa-miR-4503	CLIP-seq
MIRT2348617	hsa-miR-125a-3p	CLIP-seq
MIRT2348618	hsa-miR-127-5p	CLIP-seq
MIRT2348619	hsa-miR-2964a-3p	CLIP-seq
MIRT2348620	hsa-miR-4307	CLIP-seq
MIRT1422758	hsa-miR-518a-5p	CLIP-seq
MIRT1422761	hsa-miR-527	CLIP-seq
MIRT2348621	hsa-miR-552	CLIP-seq
MIRT1422754	hsa-miR-3919	CLIP-seq
MIRT1422756	hsa-miR-3973	CLIP-seq
MIRT1422757	hsa-miR-4756-3p	CLIP-seq
MIRT1422759	hsa-miR-520g	CLIP-seq
MIRT1422760	hsa-miR-520h	CLIP-seq
MIRT2395782	hsa-miR-607	CLIP-seq
MIRT2461435	hsa-miR-198	CLIP-seq
MIRT2461436	hsa-miR-3657	CLIP-seq
MIRT2461437	hsa-miR-4669	CLIP-seq
MIRT2461438	hsa-miR-548a-3p	CLIP-seq
MIRT2461439	hsa-miR-548e	CLIP-seq
MIRT2461440	hsa-miR-548f	CLIP-seq
MIRT2461441	hsa-miR-548g	CLIP-seq
MIRT2461442	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0004803	Function	Transposase activity	IBA
GO:0004803	Function	Transposase activity	IDA	23349291
GO:0005515	Function	Protein binding	IPI	36217029
GO:0006310	Process	DNA recombination	IDA	23349291
GO:0006310	Process	DNA recombination	IEA
GO:0006313	Process	DNA transposition	IBA
GO:0006313	Process	DNA transposition	IDA	23349291
GO:0008270	Function	Zinc ion binding	IEA
GO:0015074	Process	DNA integration	IDA	23349291
GO:0015074	Process	DNA integration	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	20010837
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 612537
• HGNC: 23192
• e!Ensembl: ENSG00000168152

Protein

• UniProt ID: Q9H5L6
• Protein name: DNA transposase THAP9 (EC 2.7.7.-) (THAP domain-containing protein 9) (hTh9)
• Protein function: Active transposase that specifically recognizes the bipartite 5'-TXXGGGX(A/T)-3' consensus motif and mediates transposition.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05485	THAP	5 → 89	THAP domain	Domain
  PF12017	Tnp_P_element	142 → 389	Transposase protein	Family

• Sequence:

  MTRSCSAVGCSTRDTVLSRERGLSFHQFPTDTIQRSKWIRAVNRVDPRSKKIWIPGPGAI
  LCSKHFQESDFESYGIRRKLKKGAVPSVSLYKIPQGVHLKGKARQKILKQPLPDNSQEVA
  TEDHNYSLKTPLTIGAEKLAEVQQMLQVSKKRLISVKNYRMIKKRKGLRLIDALVEEKLL
  SEETECLLRAQFSDFKWELYNWRETDEYSAEMKQFACTLYLCSSKVYDYVRKILKLPHSS
  ILRTWLSKCQPSPGFNSNIFSFLQRRVENGDQLYQYCSLLIKSMPLKQQLQWDPSSHSLQ
  GFMDFGLGKLDADETPLASETVLLMAVGIFGHWRTPLGYFFVNRASGYLQAQLLRLTIGK
  LSDIGITVLAVTSDATAHSVQMAKALGIHIDGDDMKCTFQHPSSSSQQIAYFFDSCHLLR
  LIRNAFQNFQSIQFINGIAHWQHLVELVALEEQELSNMERIPSTLANLKNHVLKVNSATQ
  LFSESVASALEYLLSLDLPPFQNCIGTIHFLRLINNLFDIFNSRNCYGKGLKGPLLPETY
  SKINHVLIEAKTIFVTLSDTSNNQIIKGKQKLGFLGFLLNAESLKWLYQNYVFPKVMPFP
  YLLTYKFSHDHLELFLKMLRQVLVTSSSPTCMAFQKAYYNLETRYKFQDEVFLSKVSIFD
  ISIARRKDLALWTVQRQYGVSVTKTVFHEEGICQDWSHCSLSEALLDLSDHRRNLICYAG
  YVANKLSALLTCEDCITALYASDLKASKIGSLLFVKKKNGLHFPSESLCRVINICERVVR
  THSRMAIFELVSKQRELYLQQKILCELSGHINLFVDVNKHLFDGEVCAINHFVKLLKDII
  ICFLNIRAKNVAQNPLKHHSERTDMKTLSRKHWSSVQDYKCSSFANTSSKFRHLLSNDGY
  PFK

• Sequence length: 903

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31831555		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32190687	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34691358	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33854048	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33854048	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33102573	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34691358	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31831555		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32190687	Associate	★☆☆☆☆ Found in Text Mining only