ZNF160

Summary

ZNF160 (zinc finger protein 160, HGNC:12948) is a protein-coding gene on chromosome 19q13.42, encoding Zinc finger protein 160 (Q9HCG1). May be involved in transcriptional regulation.

The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene.

Source: NCBI Gene 90338 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital factor XI deficiency (Definitive, ClinGen)
• GWAS associations: 18
• Clinical variants (ClinVar): 922 total — 69 pathogenic, 120 likely-pathogenic
• Phenotypes (HPO): 11
• MANE Select transcript: NM_001322131

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12948
Approved symbol	ZNF160
Name	zinc finger protein 160
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611
Ensembl gene	ENSG00000170949
Ensembl biotype	protein_coding
OMIM	600398
Entrez	90338

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 17 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000355147, ENST00000418871, ENST00000429604, ENST00000594760, ENST00000596388, ENST00000596966, ENST00000597112, ENST00000599056, ENST00000599247, ENST00000599729, ENST00000599980, ENST00000600924, ENST00000601421, ENST00000601982, ENST00000602095, ENST00000683776, ENST00000896795, ENST00000896796, ENST00000896797, ENST00000971827, ENST00000971828, ENST00000971829, ENST00000971830, ENST00000971831, ENST00000971832

RefSeq mRNA: 17 — MANE Select: NM_001322131 NM_001102603, NM_001322125, NM_001322126, NM_001322128, NM_001322129, NM_001322130, NM_001322131, NM_001322132, NM_001322133, NM_001322134, NM_001322135, NM_001322136, NM_001322137, NM_001322138, NM_001322139, NM_033288, NM_198893

CCDS: CCDS12859, CCDS82391, CCDS82392

Canonical transcript exons

ENST00000683776 — 6 exons

Exon	Start	End
ENSE00000842657	53074140	53074268
ENSE00001185288	53066614	53070262
ENSE00002998121	53091413	53091720
ENSE00003194562	53103265	53103422
ENSE00003471812	53075057	53075183
ENSE00003526360	53086262	53086321

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3619 / max 162.8225, expressed in 1791 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182550	19.3619	1791

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
renal medulla	UBERON:0000362	99.67	gold quality
endothelial cell	CL:0000115	99.64	gold quality
pylorus	UBERON:0001166	99.54	gold quality
nipple	UBERON:0002030	99.52	gold quality
ventral tegmental area	UBERON:0002691	99.51	gold quality
visceral pleura	UBERON:0002401	99.44	gold quality
cardia of stomach	UBERON:0001162	99.41	gold quality
sperm	CL:0000019	99.40	gold quality
superior surface of tongue	UBERON:0007371	99.39	gold quality
trigeminal ganglion	UBERON:0001675	99.38	gold quality
buccal mucosa cell	CL:0002336	99.37	gold quality
male germ cell	CL:0000015	99.30	gold quality
superior vestibular nucleus	UBERON:0007227	99.30	gold quality
inferior vagus X ganglion	UBERON:0005363	99.28	gold quality
parietal pleura	UBERON:0002400	99.17	gold quality
pleura	UBERON:0000977	99.15	gold quality
subthalamic nucleus	UBERON:0001906	99.14	gold quality
pericardium	UBERON:0002407	99.14	gold quality
tibia	UBERON:0000979	99.07	gold quality
medulla oblongata	UBERON:0001896	99.06	gold quality
lateral globus pallidus	UBERON:0002476	99.02	gold quality
superficial temporal artery	UBERON:0001614	98.92	gold quality
pharyngeal mucosa	UBERON:0000355	98.90	gold quality
urethra	UBERON:0000057	98.89	gold quality
blood vessel layer	UBERON:0004797	98.87	gold quality
saphenous vein	UBERON:0007318	98.84	gold quality
tendon of biceps brachii	UBERON:0008188	98.79	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.78	gold quality
pons	UBERON:0000988	98.77	gold quality
substantia nigra pars compacta	UBERON:0001965	98.71	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.34

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
CCR2
GPT
LCT
NFYA
PSMC2
TLR4	Repression
WNK2

miRNA regulators (miRDB)

50 targeting ZNF160, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-4424	98.91	70.33	1145

Literature-anchored findings (GeneRIF, showing 1)

• TLR4 gene transcription was repressed by epigenetic regulations, which were, at least in part, dependent on ZNF160. (PMID:19846881)

Cross-species orthologs

32 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf646	ENSDARG00000061424
danio_rerio	si:dkey-154p10.3	ENSDARG00000068366
danio_rerio	si:dkey-89b17.4	ENSDARG00000075545
danio_rerio	zgc:66472	ENSDARG00000075916
danio_rerio	si:ch211-148l7.4	ENSDARG00000094469
danio_rerio	znf576.1	ENSDARG00000097819
mus_musculus	Zfp160	ENSMUSG00000067942
rattus_norvegicus	Zfp160	ENSRNOG00000059492
drosophila_melanogaster	Sry-delta	FBGN0003512
drosophila_melanogaster	az2	FBGN0025185
drosophila_melanogaster	hang	FBGN0026575
drosophila_melanogaster	CG3032	FBGN0029928
drosophila_melanogaster	CG2129	FBGN0030008
drosophila_melanogaster	CG11695	FBGN0030316
drosophila_melanogaster	CG8944	FBGN0030680
drosophila_melanogaster	CG7101	FBGN0030963
drosophila_melanogaster	CG1602	FBGN0033186
drosophila_melanogaster	CG18011	FBGN0033491
drosophila_melanogaster	CG12942	FBGN0033569
drosophila_melanogaster	CG8089	FBGN0033993
drosophila_melanogaster	indra	FBGN0035213
drosophila_melanogaster	CG10654	FBGN0036294
drosophila_melanogaster	CG6791	FBGN0037918
drosophila_melanogaster	CG17803	FBGN0038547
drosophila_melanogaster	CG12219	FBGN0043796
drosophila_melanogaster	CG30020	FBGN0050020
drosophila_melanogaster	pzg	FBGN0259785
drosophila_melanogaster	mld	FBGN0263490
drosophila_melanogaster	zf30C	FBGN0270924
caenorhabditis_elegans	ztf-15	WBGENE00011066
caenorhabditis_elegans		WBGENE00013734
caenorhabditis_elegans		WBGENE00015649

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 160 — Q9HCG1 (reviewed: Q9HCG1)

Alternative names: Zinc finger protein HZF5, Zinc finger protein Kr18

All UniProt accessions (4): Q9HCG1, M0QXU9, M0QZ49, M0QZI7

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HCG1-1	1	yes
Q9HCG1-2	2

RefSeq proteins (17): NP_001096073, NP_001309054, NP_001309055, NP_001309057, NP_001309058, NP_001309059, NP_001309060, NP_001309061, NP_001309062, NP_001309063, NP_001309064, NP_001309065, NP_001309066, NP_001309067, NP_001309068, NP_150630, NP_942596 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050527

Pfam: PF00096, PF01352

UniProt features (27 total): zinc finger region 20, splice variant 2, sequence variant 2, chain 1, domain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCG1-F1	68.98	0.03

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 249

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 196 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_PROTEIN_ACTIVATION_CASCADE, WANG_CLIM2_TARGETS_UP, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_COAGULATION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_NEGATIVE_REGULATION_OF_COAGULATION, GOBP_WOUND_HEALING, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_REGULATION_OF_FIBRINOLYSIS, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), hemopoiesis (GO:0030097), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cell development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

498 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF160	ASXL2	Q76L83	640
ZNF160	HFM1	A2PYH4	563
ZNF160	FAXDC2	Q96IV6	526
ZNF160	XRCC3	O43542	500
ZNF160	SLC14A1	Q13336	479
ZNF160	COPZ1	P61923	479
ZNF160	EFTUD2	Q15029	405
ZNF160	MAP4K1	Q92918	391
ZNF160	MACF1	Q9UPN3	349
ZNF160	WLS	Q5T9L3	311
ZNF160	ANKMY1	Q9P2S6	309
ZNF160	PRSS45P	Q7RTY3	300
ZNF160	HAUS2	Q9NVX0	290
ZNF160	DHX40	Q8IX18	285
ZNF160	NBPF20	P0DPF2	276

IntAct

8 interactions, top by confidence:

A	B	Type	Score
LAMC3	ZNF160	psi-mi:“MI:0915”(physical association)	0.370
RCHY1	ZNF160	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350
ZNF160	IPO8	psi-mi:“MI:0914”(association)	0.350
ZNF160	prmC	psi-mi:“MI:0915”(physical association)	0.000
ZNF160	LIMS1	psi-mi:“MI:0915”(physical association)	0.000
TULP3	ZNF160	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): ZNF160 (Affinity Capture-MS), ZNF160 (Two-hybrid), ZNF160 (Two-hybrid), ZNF160 (Affinity Capture-MS), ZNF160 (Affinity Capture-MS), ZNF160 (Affinity Capture-MS), ZNF160 (Affinity Capture-MS), ZNF160 (Affinity Capture-MS), ZNF160 (Affinity Capture-RNA), ZNF160 (Two-hybrid), ZNF160 (Two-hybrid)

ESM2 similar proteins: A2VDQ7, A6NNF4, A8MQ14, A8MTY0, E9QAG8, O75290, O75373, P08043, P0CJ79, P10751, P17017, P17027, P17039, P35789, P51522, P51523, Q08AN1, Q14585, Q14587, Q3SYV7, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6ECI4, Q6JLC9, Q6P3V2, Q6P5C7, Q6ZN57, Q86UE3, Q86XN6, Q86YE8, Q8C827, Q8IYB9, Q8N4W9, Q8N7M2

Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

922 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	69
Likely pathogenic	120
Uncertain significance	322
Likely benign	242
Benign	52

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069881	NM_000128.4(F11):c.1465del (p.Thr489fs)	Pathogenic
1073465	NM_000128.4(F11):c.325+1G>A	Pathogenic
11891	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	Pathogenic
11892	NM_000128.4(F11):c.901T>C (p.Phe301Leu)	Pathogenic
11893	NM_000128.4(F11):c.1029-2A>G	Pathogenic
11894	NM_000128.4(F11):c.485+5G>C	Pathogenic
11895	NM_000128.4(F11):c.1378T>G (p.Phe460Val)	Pathogenic
11904	NM_000128.4(F11):c.1760G>C (p.Trp587Ser)	Pathogenic
11905	NC_000004.12:g.(186261554_186262508)_(?_186293752)del	Pathogenic
1333004	Single allele	Pathogenic
1367768	NM_000128.4(F11):c.1006C>T (p.Gln336Ter)	Pathogenic
1388644	NM_000128.4(F11):c.1235_1236insAA (p.His414fs)	Pathogenic
1444159	NM_000128.4(F11):c.1443del (p.Ile481fs)	Pathogenic
1457590	NM_000128.4(F11):c.738G>A (p.Trp246Ter)	Pathogenic
1459564	NM_000128.4(F11):c.1746del (p.Lys582fs)	Pathogenic
188757	NM_000128.4(F11):c.961_962del (p.Cys321fs)	Pathogenic
188810	NM_000128.4(F11):c.325G>A (p.Ala109Thr)	Pathogenic
188887	NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	Pathogenic
188914	NM_000128.4(F11):c.408C>A (p.Cys136Ter)	Pathogenic
189094	NM_000128.4(F11):c.730C>T (p.Gln244Ter)	Pathogenic
189115	NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	Pathogenic
189129	NM_000128.4(F11):c.908del (p.Gly303fs)	Pathogenic
2055640	NM_000128.4(F11):c.760_761insAGATG (p.Leu254fs)	Pathogenic
2170262	NM_000128.4(F11):c.1726G>T (p.Gly576Ter)	Pathogenic
2188764	NM_000128.4(F11):c.55+1del	Pathogenic
2422395	NC_000004.11:g.(?187208828)(187208988_?)del	Pathogenic
2422397	NC_000004.11:g.(?187186995)(187188355_?)del	Pathogenic
2422398	NC_000004.11:g.(?187201156)(187201744_?)del	Pathogenic
2580632	NM_000128.4(F11):c.727dup (p.Ser243fs)	Pathogenic
2715165	NM_000128.4(F11):c.-1-4_11del	Pathogenic

SpliceAI

3979 predictions. Top by Δscore:

Variant	Effect	Δscore
19:53070260:TAT:T	acceptor_gain	1.0000
19:53070263:C:CC	acceptor_gain	1.0000
19:53074134:TCTTA:T	donor_loss	1.0000
19:53074135:CTTAC:C	donor_loss	1.0000
19:53074136:TTACC:T	donor_loss	1.0000
19:53074137:TA:T	donor_loss	1.0000
19:53074139:C:G	donor_loss	1.0000
19:53074264:CAGTC:C	acceptor_gain	1.0000
19:53074266:GTC:G	acceptor_gain	1.0000
19:53074269:CT:C	acceptor_loss	1.0000
19:53075096:C:A	donor_gain	1.0000
19:53075179:CGTAC:C	acceptor_gain	1.0000
19:53075184:CTAAA:C	acceptor_loss	1.0000
19:53075185:T:G	acceptor_loss	1.0000
4:186273175:GCG:G	donor_gain	1.0000
4:186274108:A:AG	acceptor_gain	1.0000
4:186274111:TCCA:T	acceptor_loss	1.0000
4:186274112:CCA:C	acceptor_loss	1.0000
4:186274113:CAGCT:C	acceptor_loss	1.0000
4:186274114:A:AG	acceptor_gain	1.0000
4:186274114:A:AT	acceptor_loss	1.0000
4:186274114:AGCTT:A	acceptor_gain	1.0000
4:186274115:G:GA	acceptor_gain	1.0000
4:186274115:GC:G	acceptor_gain	1.0000
4:186274115:GCT:G	acceptor_gain	1.0000
4:186274115:GCTT:G	acceptor_gain	1.0000
4:186274115:GCTTG:G	acceptor_gain	1.0000
4:186274280:G:GG	donor_gain	1.0000
4:186275785:A:AG	acceptor_gain	1.0000
4:186275786:G:GG	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000053899 (19:53085622 C>T), RS1000054033 (19:53075667 C>T), RS1000101948 (19:53081722 A>C), RS1000127843 (19:53070693 C>G,T), RS1000245652 (19:53077470 G>C,T), RS1000306757 (19:53083221 T>C), RS1000332833 (19:53102032 T>C,G), RS1000335239 (19:53093425 CAGG>C), RS1000362085 (19:53077771 AT>A), RS1000405375 (19:53075888 T>C,G), RS1000407714 (19:53101722 G>C), RS1000731631 (19:53103063 G>A,T), RS1000734693 (19:53078648 T>C), RS1000752358 (19:53073109 T>C), RS1000829609 (19:53072054 A>ATAATTT)

Disease associations

OMIM: gene MIM:600398 | disease phenotypes: MIM:612416, MIM:227600

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital factor XI deficiency	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital factor XI deficiency	Definitive	SD

Mondo (4): congenital factor XI deficiency (MONDO:0012897), thrombocytopenia (MONDO:0002049), factor XI deficiency (MONDO:0020587), congenital factor X deficiency (MONDO:0009212)

Orphanet (2): Congenital factor XI deficiency (Orphanet:329), Congenital factor X deficiency (Orphanet:328)

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000132	Menorrhagia
HP:0000421	Epistaxis
HP:0001892	Abnormal bleeding
HP:0001929	Reduced factor XI activity
HP:0002239	Gastrointestinal hemorrhage
HP:0003645	Prolonged partial thromboplastin time
HP:0005261	Joint hemorrhage
HP:0006298	Prolonged bleeding after dental extraction
HP:0010989	Abnormality of the intrinsic pathway

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000635_25	Response to statin therapy	3.000000e-06
GCST001253_4	Venous thromboembolism	6.000000e-11
GCST001574_3	Activated partial thromboplastin time	2.000000e-18
GCST001574_4	Activated partial thromboplastin time	6.000000e-43
GCST002012_3	Venous thromboembolism	3.000000e-14
GCST002808_7	Venous thromboembolism	1.000000e-23
GCST003390_13	Thrombosis	7.000000e-28
GCST003793_1	L-arginine levels	2.000000e-22
GCST004124_1	Factor XI	3.000000e-193
GCST004211_2	Urate levels	2.000000e-08
GCST004256_3	Venous thromboembolism	2.000000e-10
GCST006018_8	Activated partial thromboplastin time	2.000000e-28
GCST008309_4	Cardiac troponin-I levels	1.000000e-08
GCST009030_3	Venous thromboembolism	3.000000e-65
GCST009030_4	Venous thromboembolism	2.000000e-54
GCST009030_5	Venous thromboembolism	8.000000e-41
GCST009097_3	Venous thromboembolism	8.000000e-96
GCST012353_31	Serum metabolite concentrations in chronic kidney disease	5.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0003907	deep vein thrombosis
EFO:0006524	L-arginine measurement
EFO:0004694	factor XI measurement
EFO:0004531	urate measurement
EFO:0010071	cardiac troponin I measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D005173	Factor XI Deficiency	C15.378.100.100.325; C15.378.100.141.325; C15.378.463.325; C16.320.099.325
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
Valproic Acid	decreases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc protoporphyrin	affects cotreatment, increases expression	1
manganese chloride	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
cobalt oxide	increases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	increases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Coumestrol	decreases expression	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Formaldehyde	increases expression	1
Manganese	increases abundance, increases expression	1

Clinical trials (associated diseases)

242 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT00037791	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00039910	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00073580	PHASE3	COMPLETED	Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE)
NCT00102323	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy
NCT00102336	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy
NCT00116688	PHASE3	COMPLETED	Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP)
NCT00128713	PHASE3	COMPLETED	Optimal Platelet Dose Strategy for Management of Thrombocytopenia
NCT00151866	PHASE3	COMPLETED	Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
NCT00261924	PHASE3	COMPLETED	Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days
NCT00415532	PHASE3	COMPLETED	Romiplostim (AMG 531) Versus Medical Standard of Care for Immune (Idiopathic) Thrombocytopenic Purpura
NCT00420914	PHASE3	TERMINATED	Strategies for Transfusion of Platelets (SToP)
NCT00501345	PHASE3	TERMINATED	Aspirin in Patients With Myocardial Infarction and Thrombocytopenia
NCT00508820	PHASE3	COMPLETED	An Open Label Study of Romiplostim in Adult Thrombocytopenic Subjects With ITP
NCT00678587	PHASE3	TERMINATED	Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures
NCT01438840	PHASE3	COMPLETED	Efficacy and Safety of Oral E5501 Plus Standard of Care for the Treatment of Thrombocytopenia in Adults With Chronic Immune Thrombocytopenia (Amendment 02)
NCT01444417	PHASE3	COMPLETED	Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients
NCT01805648	PHASE3	UNKNOWN	Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP
NCT02244658	PHASE3	UNKNOWN	Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia
NCT02389621	PHASE3	COMPLETED	Safety and Efficacy Study of Lusutrombopag for Thrombocytopenia in Patients With Chronic Liver Disease Undergoing Elective Invasive Procedures
NCT02444728	PHASE3	TERMINATED	Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE
NCT02487563	PHASE3	COMPLETED	Prospective Study of Patients With Thrombocytopenia Following HSCT
NCT02578901	PHASE3	COMPLETED	American Trial Using Tranexamic Acid in Thrombocytopenia
NCT03326843	PHASE3	TERMINATED	Avatrombopag for the Treatment of Thrombocytopenia in Adults Scheduled for a Surgical Procedure
NCT03515096	PHASE3	COMPLETED	Eltrombopag vs. rhTPO to Increase Platelet Level After HSCT
NCT05563064	PHASE3	UNKNOWN	Effect of Herbal Formulation on Thrombocytes Count
NCT07442513	PHASE3	RECRUITING	Comparison of Etamsylate Versus Placebo to Prevent Bleeding in HSCT