TRIM44

Summary

TRIM44 (tripartite motif containing 44, HGNC:19016) is a protein-coding gene on chromosome 11p13, encoding Tripartite motif-containing protein 44 (Q96DX7). May play a role in the process of differentiation and maturation of neuronal cells.

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region.

Source: NCBI Gene 54765 — RefSeq curated summary.

At a glance

• Gene–disease (curated): isolated aniridia (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 58 total
• Phenotypes (HPO): 29
• MANE Select transcript: NM_017583

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19016
Approved symbol	TRIM44
Name	tripartite motif containing 44
Location	11p13
Locus type	gene with protein product
Status	Approved
Aliases	DIPB, MC7
Ensembl gene	ENSG00000166326
Ensembl biotype	protein_coding
OMIM	612298
Entrez	54765

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000299413, ENST00000532066, ENST00000851352, ENST00000851353, ENST00000851354, ENST00000949580, ENST00000949581, ENST00000949582

RefSeq mRNA: 1 — MANE Select: NM_017583 NM_017583

CCDS: CCDS31461

Canonical transcript exons

ENST00000299413 — 5 exons

Exon	Start	End
ENSE00001102128	35685259	35685336
ENSE00001120260	35662775	35663780
ENSE00002590803	35806358	35818007
ENSE00003493820	35725924	35726163
ENSE00003673319	35735426	35735445

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.1707 / max 1033.4602, expressed in 1810 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113859	26.4107	1801
113858	14.7042	1759
113866	0.6713	225
113860	0.6578	386
113867	0.4773	173
113861	0.3177	101
113863	0.3163	141
113864	0.2119	95
113862	0.2002	78
113865	0.1870	75

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	98.38	gold quality
superior vestibular nucleus	UBERON:0007227	98.10	gold quality
inferior vagus X ganglion	UBERON:0005363	98.07	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.98	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.86	gold quality
medulla oblongata	UBERON:0001896	97.80	gold quality
ventral tegmental area	UBERON:0002691	97.79	gold quality
parietal lobe	UBERON:0001872	97.78	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.72	gold quality
postcentral gyrus	UBERON:0002581	97.71	gold quality
subthalamic nucleus	UBERON:0001906	97.70	gold quality
lateral globus pallidus	UBERON:0002476	97.51	gold quality
nipple	UBERON:0002030	97.30	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.29	gold quality
substantia nigra pars compacta	UBERON:0001965	97.04	gold quality
middle temporal gyrus	UBERON:0002771	97.01	gold quality
mammary duct	UBERON:0001765	96.81	gold quality
CA1 field of hippocampus	UBERON:0003881	96.73	gold quality
inferior olivary complex	UBERON:0002127	96.66	gold quality
renal medulla	UBERON:0000362	96.60	gold quality
pylorus	UBERON:0001166	96.57	gold quality
superior frontal gyrus	UBERON:0002661	96.44	gold quality
epithelium of mammary gland	UBERON:0003244	96.42	gold quality
orbitofrontal cortex	UBERON:0004167	96.38	gold quality
pericardium	UBERON:0002407	96.34	gold quality
trigeminal ganglion	UBERON:0001675	96.20	gold quality
cardia of stomach	UBERON:0001162	96.05	gold quality
entorhinal cortex	UBERON:0002728	96.02	gold quality
saphenous vein	UBERON:0007318	96.01	gold quality
lower lobe of lung	UBERON:0008949	95.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
IFNB1	Activation

miRNA regulators (miRDB)

198 targeting TRIM44, 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-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1250-3P	99.96	70.04	4038

Literature-anchored findings (GeneRIF, showing 40)

• terf interacts with TRIM44;TRIM44 inhibited ubiquitination of terf, and thus stabilized the protein. (PMID:19358823)
• Overexpression of the TRIM44 protein was significantly correlated with an advanced type of macroscopic appearance. (PMID:22862969)
• rim44 functions as a positive regulator of the virus-triggered immune response by enhancing the stability of VISA. (PMID:23460740)
• Trim44 promotes non-small cell lung cancer development through activation of NF-kappaB signaling via upregulating CXCL16 and MMP9 expression. (PMID:25345539)
• Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression (PMID:26394807)
• Data show that the TRIM44-mTOR axis increases metastasis and proliferation. (PMID:27058415)
• High expression of TRIM44 is associated with enhanced cell proliferation, migration, invasion, and resistance to doxorubicin in hepatocellular carcinoma. (PMID:27619678)
• results suggest that high expression of TRIM44 is associated with poor prognosis and that TRIM44 plays significant role in cell proliferation, migration, and anti-apoptosis in testicular germ cell tumor (PMID:27754579)
• Mechanistic studies showed that knockdown of TRIM44 significantly reduced the levels of phosphorylated PI3K and Akt in PC-3 cells. Study provided evidence that knockdown of TRIM44 inhibited proliferation and invasion in prostate cancer cells, at least in part, through the inactivation of the PI3K/Akt signaling pathway. (PMID:28160462)
• These results suggest that tripartite motif-containing protein 44 protein could play a crucial role in tumor invasion through its overexpression and highlight its usefulness as a predictor and potential therapeutic target in esophageal squamous cell carcinoma (PMID:28618928)
• the TRIM44 status was an independent prognostic factor for distant disease-free survival (p = 0.005) and overall survival (p = 0.002) of patients. (PMID:28885545)
• Silencing of TRIM44 inhibits the proliferation, migration and invasion of papillary thyroid cancer cells. (PMID:28965013)
• Results suggest elevated TRIM44 promotes ICC development by inducing cell EMT and apoptosis resistance. (PMID:29446253)
• that TRIM44 predicts the risk of development and prognosis of endometrial cancer, highlighting its potential application as a therapeutic target for this malignancy (PMID:29526558)
• High TRIM44 expression is associated with multiple myeloma. (PMID:30089913)
• Elevated TRIM44 expression promotes human esophageal cancer development by epithelial mesenchymal transition via the AKT/mTOR pathway. (PMID:30098109)
• The levels of TRIM44 protein and TRIM44 mRNA in squamous cell carcinoma are both lowly expressed which is strongly associated with tumor staging, metastasis, and poor survival. (PMID:30383661)
• Studies indicate that tripartite motif containing 44 (TRIM44)expression contributes to the progression of cervical cancer, and could be used as a marker of clinical diagnosis and prognosis of patients with cervical cancer. (PMID:30792262)
• Study demonstrates that TRIM44 is significantly amplified in melanoma tissues, and overexpression of TRIM44 is associated with a malignant phenotype of melanoma. TRIM44 is the target of miR-26b-5p, which is significantly downregulated in melanoma tissues and may be responsible for the overexpression of TRIM44. (PMID:30922374)
• TRIM44 is indispensable for glioma cell proliferation and cell cycle progression through AKT/p21/p27 signaling pathway. TRIM44 was associated with oncogenic potential of glioma. Targeting TRIM44 might be beneficial for glioma therapy. (PMID:31605296)
• miR-192-5p suppresses the progression of lung cancer bone metastasis by targeting TRIM44. (PMID:31873114)
• TRIM44 promotes cell proliferation by regulating FRK. (PMID:31883420)
• ELFN1-AS1 accelerates the proliferation and migration of colorectal cancer via regulation of miR-4644/TRIM44 axis. (PMID:31929141)
• Knockdown of HIF1A-AS2 suppresses TRIM44 to protect cardiomyocytes against hypoxia-induced injury. (PMID:32222118)
• Down-regulation of long non-coding RNA DUXAP8 suppresses proliferation, metastasis and EMT by modulating miR-498 through TRIM44-mediated AKT/mTOR pathway in non-small-cell lung cancer. (PMID:32271433)
• Expression of tripartite motif-containing 44 and its prognostic and clinicopathological value in human malignancies:a meta-analysis. (PMID:32503466)
• The Novel Target of Colorectal Carcinoma: TRIM44 Regulates Cell Migration and Invasion via Activation of CXCR4/NF-kappaB Signaling. (PMID:33151473)
• MiR-34a-5p directly targeting TRIM44 affects the biological behavior of ovarian cancer cells. (PMID:33629295)
• Knockdown of circRAD23B Exerts Antitumor Response in Colorectal Cancer via the Regulation of miR-1205/TRIM44 axis. (PMID:33634427)
• TRIM44 facilitates ovarian cancer proliferation, migration, and invasion by inhibiting FRK. (PMID:34034495)
• TRIM44 mediated p62 deubiquitination enhances DNA damage repair by increasing nuclear FLNA and 53BP1 expression. (PMID:34211088)
• Long noncoding RNA LINC00858 promotes the progression of ovarian cancer via regulating the miR-134-5p/TRIM44 axis. (PMID:34423728)
• YTHDF1 promotes the proliferation, migration, and invasion of prostate cancer cells by regulating TRIM44. (PMID:34677810)
• CircFBXW8 Acts an Oncogenic Role in the Malignant Progression of Non-small Cell Lung Carcinoma by miR-370-3p-Dependent Regulation of TRIM44. (PMID:34988777)
• TRIM44 promotes BRCA1 functions in HR repair to induce Cisplatin Chemoresistance in Lung Adenocarcinoma by Deubiquitinating FLNA. (PMID:35541909)
• Clinical Significance of TRIM44 Expression in Patients with Gastric Cancer. (PMID:35633558)
• TRIM44 regulates tumor immunity in gastric cancer through LOXL2-dependent extracellular matrix remodeling. (PMID:36512309)
• Silencing LINC00491 inhibits prostate cancer development through the miR-384/TRIM44 axis. (PMID:37070216)
• Overexpression of TRIM44 mediates the NF-kappaB pathway to promote the progression of ovarian cancer. (PMID:38691326)
• TRIM44 enhances autophagy via SQSTM1 oligomerization in response to oxidative stress. (PMID:39152142)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim44	ENSDARG00000051761
mus_musculus	Trim44	ENSMUSG00000027189
rattus_norvegicus	Trim44	ENSRNOG00000005191

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

Tripartite motif-containing protein 44 — Q96DX7 (reviewed: Q96DX7)

Alternative names: Protein DIPB

All UniProt accessions (1): Q96DX7

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the process of differentiation and maturation of neuronal cells. May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression.

Subunit / interactions. Interacts (via coiled coil) with TRIM17 (via coiled coil).

Tissue specificity. Highly expressed in testis.

Disease relevance. Aniridia 3 (AN3) [MIM:617142] A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_060053* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR050143	TRIM/RBCC	Family

Pfam: PF00643

UniProt features (19 total): binding site 4, region of interest 3, compositionally biased region 3, modified residue 2, sequence variant 2, sequence conflict 2, chain 1, zinc finger region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96DX7-F1	74.22	0.44

Functional residue map

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

Ligand- & substrate-binding residues (4): 182; 201; 207; 179

Post-translational modifications (2): 336, 339

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 273 (showing top): WU_APOPTOSIS_BY_CDKN1A_VIA_TP53, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_RESPONSE_TO_PEPTIDE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, CAGCAGG_MIR370, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_POSITIVE_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_PROTEIN_STABILIZATION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION

GO Biological Process (8): positive regulation of cytokine-mediated signaling pathway (GO:0001961), positive regulation of defense response to virus by host (GO:0002230), regulation of gene expression (GO:0010468), innate immune response (GO:0045087), positive regulation of DNA-templated transcription (GO:0045893), protein stabilization (GO:0050821), negative regulation of protein K48-linked ubiquitination (GO:0061944), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224)

GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cytokine-mediated signaling pathway	1
positive regulation of signal transduction	1
cytokine-mediated signaling pathway	1
positive regulation of response to cytokine stimulus	1
regulation of defense response to virus by host	1
gene expression	1
regulation of macromolecule biosynthetic process	1
immune response	1
defense response to symbiont	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of protein stability	1
regulation of protein K48-linked ubiquitination	1
protein K48-linked ubiquitination	1
negative regulation of protein polyubiquitination	1
non-canonical NF-kappaB signal transduction	1
regulation of non-canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM44	USP39	Q53GS9	890
TRIM44	FJX1	Q86VR8	861
TRIM44	BBOX1	O75936	759
TRIM44	PAX6	P26367	726
TRIM44	TRIM14	Q14142	627
TRIM44	TRAT1	Q6PIZ9	608
TRIM44	TRIM66	O15016	593
TRIM44	TRIM11	Q96F44	588
TRIM44	TRIM23	P36406	582
TRIM44	TRIM2	Q9C040	573
TRIM44	TRIM3	O75382	542
TRIM44	NDC80	O14777	541
TRIM44	TRIM41	Q8WV44	531
TRIM44	TRIM59	Q8IWR1	528
TRIM44	TRIM9	Q9C026	525

IntAct

46 interactions, top by confidence:

A	B	Type	Score
CUL2	VHL	psi-mi:“MI:0914”(association)	0.940
TRIM44	TRIM10	psi-mi:“MI:0915”(physical association)	0.670
TRIM44	CUL2	psi-mi:“MI:0914”(association)	0.640
PBX3	TRIM44	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	TRIM44	psi-mi:“MI:0915”(physical association)	0.560
TRIM44	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM44	PBX3	psi-mi:“MI:0915”(physical association)	0.560
MORN4	TRIM44	psi-mi:“MI:0915”(physical association)	0.560
TRIM44	PICK1	psi-mi:“MI:0915”(physical association)	0.560
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
EDA	AP3B1	psi-mi:“MI:0914”(association)	0.530
LRRTM4	AP3B1	psi-mi:“MI:0914”(association)	0.530
TRIM10	WIZ	psi-mi:“MI:0914”(association)	0.530
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
TRIM10	POLRMT	psi-mi:“MI:0914”(association)	0.350
TRIM17	SNX2	psi-mi:“MI:0914”(association)	0.350
SNAP91	GMNN	psi-mi:“MI:0914”(association)	0.350
TRIM17	MTMR1	psi-mi:“MI:0914”(association)	0.350
TRIM10	VWA8	psi-mi:“MI:0914”(association)	0.350
TRIM44	ZNF254	psi-mi:“MI:0914”(association)	0.350
BTK	BLTP3B	psi-mi:“MI:0914”(association)	0.350
FZD10	PDE2A	psi-mi:“MI:0914”(association)	0.350
HTR2C	HAT1	psi-mi:“MI:0914”(association)	0.350
INSL6	AP3B1	psi-mi:“MI:0914”(association)	0.350
MEAF6	WDR46	psi-mi:“MI:0914”(association)	0.350
NR3C1	DNAJA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (128): TRIM44 (Two-hybrid), TRIM69 (Two-hybrid), TRIM44 (Affinity Capture-MS), TRIM44 (Synthetic Lethality), ZNF254 (Affinity Capture-MS), DACH1 (Affinity Capture-MS), TRIM44 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), CDCA8 (Affinity Capture-MS), SPATS2L (Affinity Capture-MS), CCDC15 (Affinity Capture-MS), FEM1B (Affinity Capture-MS), TRIM44 (Affinity Capture-MS), TRIM11 (Affinity Capture-MS)

ESM2 similar proteins: A0JNG4, A1L4K1, A6QQX5, G3X8Y1, H0UZ81, I1VZH0, O95361, P18302, P97432, Q15554, Q38HM4, Q3UFB2, Q3V3A7, Q501R9, Q505B8, Q58D15, Q5EAN7, Q5PQN5, Q5R760, Q5R846, Q5RC94, Q5REJ9, Q5RF77, Q5T7N3, Q5XIH6, Q60953, Q62881, Q6P752, Q6PIF2, Q6QA27, Q6ZRF8, Q810L3, Q8BSI6, Q8BYU6, Q8BZ52, Q8N9B5, Q91VL8, Q91Z63, Q969Q1, Q96DX7

Diamond homologs: A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH17, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510, Q62556, Q640S6, Q6PGR9, Q6QA27, Q6UX41, Q6UXG8, Q6ZMU5, Q7SZN2, Q7T308, Q7TST0, Q810I1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1705 predictions. Top by Δscore:

Variant	Effect	Δscore
11:35663781:G:GG	donor_gain	1.0000
11:35685256:TA:T	acceptor_loss	1.0000
11:35685256:TAGAG:T	acceptor_gain	1.0000
11:35685257:A:AG	acceptor_gain	1.0000
11:35685257:AG:A	acceptor_loss	1.0000
11:35685258:G:GG	acceptor_gain	1.0000
11:35685258:GA:G	acceptor_gain	1.0000
11:35685258:GAGC:G	acceptor_gain	1.0000
11:35685258:GAGCA:G	acceptor_gain	1.0000
11:35685332:CTAAA:C	donor_gain	1.0000
11:35685333:TAAA:T	donor_gain	1.0000
11:35685334:AAA:A	donor_gain	1.0000
11:35685335:AA:A	donor_gain	1.0000
11:35685337:G:GG	donor_gain	1.0000
11:35685337:G:T	donor_loss	1.0000
11:35735424:A:AG	acceptor_gain	1.0000
11:35735425:G:GG	acceptor_gain	1.0000
11:35735442:CCAGG:C	donor_loss	1.0000
11:35735444:AGG:A	donor_loss	1.0000
11:35735445:GGTAA:G	donor_loss	1.0000
11:35735446:GT:G	donor_loss	1.0000
11:35735447:T:A	donor_loss	1.0000
11:35806543:G:T	donor_gain	1.0000
11:35663642:G:GT	donor_gain	0.9900
11:35663777:AAGAG:A	donor_loss	0.9900
11:35663778:AGAG:A	donor_loss	0.9900
11:35663779:GA:G	donor_gain	0.9900
11:35663779:GAGT:G	donor_loss	0.9900
11:35663781:GTAA:G	donor_loss	0.9900
11:35663782:TAA:T	donor_loss	0.9900

AlphaMissense

2328 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:35663646:T:C	C179R	1.000
11:35663703:T:C	C198R	1.000
11:35685311:T:C	L241S	1.000
11:35725963:T:C	F263L	1.000
11:35725965:T:A	F263L	1.000
11:35725965:T:G	F263L	1.000
11:35663646:T:A	C179S	0.999
11:35663647:G:C	C179S	0.999
11:35663679:T:C	C190R	0.999
11:35663680:G:A	C190Y	0.999
11:35663681:C:G	C190W	0.999
11:35663704:G:A	C198Y	0.999
11:35663705:T:G	C198W	0.999
11:35663712:T:C	C201R	0.999
11:35685321:G:C	K244N	0.999
11:35685321:G:T	K244N	0.999
11:35725952:T:A	I259K	0.999
11:35725964:T:C	F263S	0.999
11:35725964:T:G	F263C	0.999
11:35726015:T:C	L280P	0.999
11:35726032:G:C	A286P	0.999
11:35726038:G:C	A288P	0.999
11:35726044:G:C	A290P	0.999
11:35726063:T:C	L296P	0.999
11:35726065:G:C	A297P	0.999
11:35726093:T:C	L306S	0.999
11:35726107:G:C	A311P	0.999
11:35663657:T:A	H182Q	0.998
11:35663657:T:G	H182Q	0.998
11:35663676:T:G	Y189D	0.998

dbSNP variants (sampled 300 via entrez): RS1000032206 (11:35701103 A>G), RS1000046041 (11:35741736 C>T), RS1000049481 (11:35762772 A>G), RS1000071223 (11:35770460 A>G), RS1000079221 (11:35671381 T>C), RS1000084598 (11:35672239 T>C), RS1000131876 (11:35716398 G>C), RS1000134061 (11:35799627 T>C), RS1000181871 (11:35696880 T>A), RS1000211204 (11:35741104 A>C,G), RS1000214322 (11:35696568 G>A), RS1000246023 (11:35793202 C>T), RS1000256691 (11:35665270 G>C), RS1000282520 (11:35683343 C>G,T), RS1000289311 (11:35695969 G>A,T)

Disease associations

OMIM: gene MIM:612298 | disease phenotypes: MIM:617142

GenCC curated gene-disease

Disease	Classification	Inheritance
isolated aniridia	Supportive	Autosomal dominant
aniridia 3	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
aniridia 3	Limited	AD

Mondo (2): aniridia 3 (MONDO:0014938), isolated aniridia (MONDO:0007119)

Orphanet (0):

HPO phenotypes

29 total (29 of 29 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000526	Aniridia
HP:0000568	Microphthalmia
HP:0000572	Visual loss
HP:0000609	Optic nerve hypoplasia
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000642	Red-green dyschromatopsia
HP:0000659	Peters anomaly
HP:0001083	Ectopia lentis
HP:0001097	Keratoconjunctivitis sicca
HP:0003577	Congenital onset
HP:0007663	Reduced visual acuity
HP:0007676	Hypoplasia of the iris
HP:0007750	Hypoplasia of the fovea
HP:0007894	Fundus hypopigmentation
HP:0007957	Corneal opacity
HP:0008059	Aplasia/Hypoplasia of the macula
HP:0011496	Corneal neovascularization
HP:0030466	Abnormal full-field electroretinogram
HP:0030468	Abnormal multifocal electroretinogram
HP:0030622	Abnormal foveal pit on macular OCT
HP:0030961	Microspherophakia
HP:0032107	Limbal stem cell deficiency
HP:0100719	Lens coloboma

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000514_11	Response to antipsychotic therapy (extrapyramidal side effects)	8.000000e-06
GCST003992_9	Photic sneeze reflex	4.000000e-10
GCST009391_346	Metabolite levels	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0010431	triacylglycerol 56:4 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
nuciferine	decreases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
1-UFT protocol	decreases response to substance	1
bafilomycin A1	affects binding, increases reaction	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
Arsenic Trioxide	decreases response to substance, decreases reaction, increases lipidation, affects reaction, increases expression (+2 more)	1
Acetaminophen	decreases expression	1
Acetylcysteine	affects binding, decreases reaction, increases reaction	1
Arsenic	affects methylation	1
Chloroquine	affects binding, increases reaction	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	increases reaction, affects binding	1
Methapyrilene	increases methylation	1
Thiram	increases expression	1
Valproic Acid	decreases methylation	1
Vitamin E	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TU25	HAP1 TRIM44 (-) 1	Cancer cell line	Male
CVCL_TU26	HAP1 TRIM44 (-) 2	Cancer cell line	Male
CVCL_TU27	HAP1 TRIM44 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford