TSEN34

Summary

TSEN34 (tRNA splicing endonuclease subunit 34, HGNC:15506) is a protein-coding gene on chromosome 19q13.42, encoding tRNA-splicing endonuclease subunit Sen34 (Q9BSV6). Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It is a selective cancer dependency (DepMap: 53.9% of cell lines).

This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Source: NCBI Gene 79042 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pontocerebellar hypoplasia type 2 (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 213 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 46
• Cancer dependency (DepMap): dependent in 53.9% of screened cell lines
• MANE Select transcript: NM_001077446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15506
Approved symbol	TSEN34
Name	tRNA splicing endonuclease subunit 34
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	SEN34, SEN34L
Ensembl gene	ENSG00000170892
Ensembl biotype	protein_coding
OMIM	608754
Entrez	79042

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 16 protein_coding, 1 retained_intron

ENST00000302937, ENST00000396383, ENST00000396388, ENST00000429671, ENST00000455798, ENST00000496583, ENST00000653273, ENST00000665674, ENST00000667261, ENST00000862764, ENST00000862765, ENST00000862766, ENST00000862767, ENST00000862768, ENST00000862769, ENST00000966995, ENST00000966996

RefSeq mRNA: 5 — MANE Select: NM_001077446 NM_001077446, NM_001282332, NM_001282333, NM_001386740, NM_024075

CCDS: CCDS42609, CCDS74446

Canonical transcript exons

ENST00000396388 — 4 exons

Exon	Start	End
ENSE00001276594	54191721	54191964
ENSE00001524783	54191308	54191607
ENSE00003785306	54192116	54192373
ENSE00003850377	54193175	54194532

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 96.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.6859 / max 215.6274, expressed in 1821 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177478	22.2323	1810
177477	6.1488	1689
177476	1.3048	925

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	96.88	gold quality
right adrenal gland	UBERON:0001233	95.02	gold quality
right adrenal gland cortex	UBERON:0035827	94.55	gold quality
left adrenal gland	UBERON:0001234	94.40	gold quality
left adrenal gland cortex	UBERON:0035825	94.31	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.74	gold quality
adrenal gland	UBERON:0002369	92.55	gold quality
mucosa of transverse colon	UBERON:0004991	92.27	gold quality
right ovary	UBERON:0002118	92.00	gold quality
right uterine tube	UBERON:0001302	91.86	gold quality
left ovary	UBERON:0002119	91.76	gold quality
granulocyte	CL:0000094	91.46	gold quality
ventricular zone	UBERON:0003053	91.38	gold quality
left uterine tube	UBERON:0001303	91.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.34	gold quality
leukocyte	CL:0000738	91.24	gold quality
ovary	UBERON:0000992	91.20	gold quality
monocyte	CL:0000576	91.14	gold quality
right testis	UBERON:0004534	91.14	gold quality
right coronary artery	UBERON:0001625	91.12	gold quality
popliteal artery	UBERON:0002250	91.04	gold quality
tibial artery	UBERON:0007610	91.04	gold quality
embryo	UBERON:0000922	90.81	gold quality
ganglionic eminence	UBERON:0004023	90.81	gold quality
ectocervix	UBERON:0012249	90.81	gold quality
descending thoracic aorta	UBERON:0002345	90.78	gold quality
endocervix	UBERON:0000458	90.75	gold quality
left testis	UBERON:0004533	90.58	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.44	gold quality
spleen	UBERON:0002106	90.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting TSEN34, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-454-3P	99.91	74.01	1925

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 53.9% of screened cell lines.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tsen34	ENSDARG00000061370
mus_musculus	Tsen34	ENSMUSG00000035585
rattus_norvegicus	Tsen34	ENSRNOG00000059572
drosophila_melanogaster	Tsen34	FBGN0053260
caenorhabditis_elegans		WBGENE00019535

Protein

Protein identifiers

tRNA-splicing endonuclease subunit Sen34 — Q9BSV6 (reviewed: Q9BSV6)

Alternative names: Leukocyte receptor cluster member 5, tRNA-intron endonuclease Sen34

All UniProt accessions (5): Q9BSV6, A0A590UJ73, A0A590UJW4, B0V3J0, E7EQB3

UniProt curated annotations — full annotation on UniProt →

Function. Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5’- and 3’-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2’,3’-cyclic phosphate and 5’-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. It probably carries the active site for 3’-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3’-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3’-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.

Subunit / interactions. tRNA splicing endonuclease is a heterotetramer composed of TSEN2, TSEN15, TSEN34/LENG5 and TSEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3’-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2.

Subcellular location. Nucleus. Nucleolus.

Disease relevance. Pontocerebellar hypoplasia 2C (PCH2C) [MIM:612390] A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4.

Similarity. Belongs to the tRNA-intron endonuclease family.

RefSeq proteins (5): NP_001070914, NP_001269261, NP_001269262, NP_001373669, NP_076980 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006676	tRNA_splic	Family
IPR006677	tRNA_intron_Endonuc_cat-like	Domain
IPR011856	tRNA_endonuc-like_dom_sf	Homologous_superfamily
IPR016690	TSEN34	Family
IPR036167	tRNA_intron_Endo_cat-like_sf	Homologous_superfamily
IPR059049	TSEN34_N	Domain

Pfam: PF01974, PF26577

Enzyme classification (BRENDA):

• EC 4.6.1.16 — tRNA-intron lyase (BRENDA: 22 organisms, 86 substrates, 10 inhibitors, 1 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
PRETRNA	0.0003	1

UniProt features (34 total): strand 16, helix 8, active site 3, turn 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
6Z9U	X-RAY DIFFRACTION	2.1
8HMZ	ELECTRON MICROSCOPY	2.9
8HMY	ELECTRON MICROSCOPY	2.94
7ZRZ	ELECTRON MICROSCOPY	3.09
8ISS	ELECTRON MICROSCOPY	3.19
7UXA	ELECTRON MICROSCOPY	3.28

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BSV6-F1	84.74	0.67

Functional residue map

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

Catalytic / active sites (3): 247; 255; 286

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-72306	tRNA processing
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 240 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GCM_GSPT1, PAL_PRMT5_TARGETS_UP, GOMF_NUCLEASE_ACTIVITY, GOBP_TRNA_METABOLIC_PROCESS, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_RNA_SPLICING_VIA_ENDONUCLEOLYTIC_CLEAVAGE_AND_LIGATION, GOBP_RNA_SPLICING, MCCABE_HOXC6_TARGETS_CANCER_DN, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GCM_NF2, DANG_BOUND_BY_MYC, GOBP_TRNA_PROCESSING, REACTOME_METABOLISM_OF_RNA

GO Biological Process (4): tRNA-type intron splice site recognition and cleavage (GO:0000379), mRNA processing (GO:0006397), tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388), tRNA processing (GO:0008033)

GO Molecular Function (3): tRNA-intron lyase activity (GO:0000213), nucleic acid binding (GO:0003676), lyase activity (GO:0016829)

GO Cellular Component (4): tRNA-intron endonuclease complex (GO:0000214), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
tRNA processing	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	3
nuclear lumen	2
tRNA splicing, via endonucleolytic cleavage and ligation	1
mRNA metabolic process	1
RNA splicing, via endonucleolytic cleavage and ligation	1
tRNA processing	1
tRNA metabolic process	1
RNA endonuclease activity	1
tRNA-specific ribonuclease activity	1
phosphorus-oxygen lyase activity	1
binding	1
catalytic activity	1
nuclear protein-containing complex	1
endoribonuclease complex	1
cellular anatomical structure	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

600 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSEN34	TSEN2	Q8NCE0	999
TSEN34	TSEN54	Q7Z6J9	999
TSEN34	TSEN15	Q8WW01	999
TSEN34	RARS2	Q5T160	775
TSEN34	SEPSECS	Q9HD40	703
TSEN34	TRPT1	Q86TN4	595
TSEN34	RTCB	Q9Y3I0	587
TSEN34	EXOSC3	Q9NQT5	579
TSEN34	CLP1	Q92989	522
TSEN34	VRK1	Q99986	520
TSEN34	LENG1	Q96BZ8	490
TSEN34	CHMP1A	Q9HD42	477
TSEN34	TOE1	Q96GM8	472
TSEN34	XPOT	O43592	453
TSEN34	VPS53	Q5VIR6	451

IntAct

31 interactions, top by confidence:

A	B	Type	Score
PSMC3	PSMD9	psi-mi:“MI:0914”(association)	0.940
TSEN2	TSEN54	psi-mi:“MI:0914”(association)	0.830
TSEN15	TSEN54	psi-mi:“MI:0914”(association)	0.740
TSEN15	TSEN54	psi-mi:“MI:0915”(physical association)	0.740
CLP1	PCF11	psi-mi:“MI:0914”(association)	0.590
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
FCN1	TSEN34	psi-mi:“MI:0915”(physical association)	0.370
Batf3	SF3B2	psi-mi:“MI:0914”(association)	0.350
L1TD1	PPP1R12C	psi-mi:“MI:0914”(association)	0.350
METTL3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
TSEN2	XPC	psi-mi:“MI:0914”(association)	0.350
PRKCB	CHEK1	psi-mi:“MI:0914”(association)	0.350
TSEN15	TSEN54	psi-mi:“MI:0914”(association)	0.350
ZNF79	IPO8	psi-mi:“MI:0914”(association)	0.350
SSB	RPS3A	psi-mi:“MI:0914”(association)	0.350
TSEN2	TMED8	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
POLD3	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
C1QA	VWA8	psi-mi:“MI:0914”(association)	0.350
CAMK2D	PPM1D	psi-mi:“MI:0914”(association)	0.350
FTL		psi-mi:“MI:0914”(association)	0.350
TSEN15	TNKS	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN2 (Affinity Capture-MS), TSEN54 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN34 (Affinity Capture-MS)

ESM2 similar proteins: A3KP59, A5PK74, A6QQJ8, D3YY23, D3ZU57, E2RDP2, O75064, O95382, O95398, P0C5W1, P0C7A1, P16386, P52824, P54310, Q0P5G1, Q15477, Q1JPD6, Q1L5Z9, Q3T1I9, Q3TV65, Q3U1Y4, Q562E7, Q5ZMM1, Q684M2, Q68J42, Q6NZR5, Q766D5, Q76MJ5, Q80TE0, Q86TL0, Q8BGV9, Q8BIW9, Q8BMZ5, Q8BX80, Q8C052, Q8IV53, Q8K1S6, Q8N594, Q8NFI3, Q8R5G7

Diamond homologs: A1RSY7, A2BIW2, A4WLV3, A6UPD9, B0R7C0, B1Y9D1, B6YXU4, C3MQX7, C3MWW5, C3N6N2, C3N746, C3NGJ0, C4KIA4, C5A2D9, O07118, O07165, O29362, O58033, P16658, Q12X51, Q3IU70, Q46FK9, Q4JAF4, Q58819, Q5JHP5, Q5M954, Q5UYF6, Q5Z6B1, Q5ZIN2, Q6L1P9, Q6LY59, Q6P7W5, Q74MP4, Q74ZY5, Q7SAK9, Q8BMZ5, Q8NCE0, Q8PZI1, Q8TGX1, Q8TGZ5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metabolism of RNA	6	9.3×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA processing	5	11.9×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	109
Likely benign	47
Benign	31

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2124	NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)	Pathogenic
804160	NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)	Likely pathogenic

SpliceAI

854 predictions. Top by Δscore:

Variant	Effect	Δscore
19:54191603:GCCTG:G	donor_gain	1.0000
19:54191958:G:GT	donor_gain	1.0000
19:54191961:GCTG:G	donor_gain	1.0000
19:54192369:TCCTG:T	donor_gain	1.0000
19:54192372:TGGTG:T	donor_loss	1.0000
19:54192374:G:GA	donor_loss	1.0000
19:54192374:G:GG	donor_gain	1.0000
19:54192375:T:G	donor_loss	1.0000
19:54193171:CCAG:C	acceptor_loss	1.0000
19:54193172:CAG:C	acceptor_loss	1.0000
19:54189648:TTGG:T	donor_gain	0.9900
19:54189726:C:CA	donor_gain	0.9900
19:54191608:GTAAG:G	donor_loss	0.9900
19:54191609:T:A	donor_loss	0.9900
19:54191838:GCTGC:G	donor_gain	0.9900
19:54191919:G:GT	donor_gain	0.9900
19:54191955:G:GT	donor_gain	0.9900
19:54191965:G:GG	donor_gain	0.9900
19:54191966:T:A	donor_loss	0.9900
19:54191967:GA:G	donor_loss	0.9900
19:54192111:A:AG	acceptor_gain	0.9900
19:54192111:ACCAG:A	acceptor_gain	0.9900
19:54192112:CCAG:C	acceptor_loss	0.9900
19:54192113:CA:C	acceptor_loss	0.9900
19:54192114:A:AC	acceptor_loss	0.9900
19:54192114:A:AG	acceptor_gain	0.9900
19:54192114:AG:A	acceptor_gain	0.9900
19:54192115:G:GT	acceptor_gain	0.9900
19:54192115:GG:G	acceptor_gain	0.9900
19:54192115:GGC:G	acceptor_gain	0.9900

AlphaMissense

1962 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:54192346:T:C	F240L	0.999
19:54192348:C:A	F240L	0.999
19:54192348:C:G	F240L	0.999
19:54193189:T:C	F254L	0.999
19:54193191:C:A	F254L	0.999
19:54193191:C:G	F254L	0.999
19:54193192:C:G	H255D	0.999
19:54192365:T:A	V246D	0.998
19:54193192:C:A	H255N	0.998
19:54193196:C:A	A256D	0.998
19:54193208:C:A	A260D	0.998
19:54193287:G:C	K286N	0.998
19:54193287:G:T	K286N	0.998
19:54193194:C:A	H255Q	0.997
19:54193194:C:G	H255Q	0.997
19:54193286:A:C	K286T	0.997
19:54193286:A:T	K286M	0.997
19:54193302:T:G	C291W	0.997
19:54193345:T:A	W306R	0.997
19:54193345:T:C	W306R	0.997
19:54192253:T:A	W209R	0.996
19:54192253:T:C	W209R	0.996
19:54192255:G:C	W209C	0.996
19:54192255:G:T	W209C	0.996
19:54192308:T:C	L227P	0.996
19:54192359:T:C	F244S	0.996
19:54192367:T:G	Y247D	0.996
19:54193295:T:C	L289P	0.996
19:54191510:C:A	P49Q	0.995
19:54192362:T:C	L245P	0.995

dbSNP variants (sampled 300 via entrez): RS1000342777 (19:54190173 T>C), RS1000624135 (19:54189349 G>A,C,T), RS1000655461 (19:54189518 G>A), RS1000830558 (19:54188144 A>C), RS1000906274 (19:54193291 C>G,T), RS1000946240 (19:54187908 G>C), RS1001496983 (19:54190328 C>A,T), RS1001611453 (19:54190158 G>A,C), RS1001791129 (19:54190778 T>C,G), RS1001832533 (19:54189283 G>T), RS1002213273 (19:54189721 G>C), RS1002273207 (19:54193835 T>C), RS1002360680 (19:54193700 C>T), RS1002524857 (19:54189921 C>A,T), RS1002540986 (19:54190861 C>A,G)

Disease associations

OMIM: gene MIM:608754 | disease phenotypes: MIM:607596, MIM:612390

GenCC curated gene-disease

Disease	Classification	Inheritance
pontocerebellar hypoplasia type 2	Supportive	Autosomal recessive
pontocerebellar hypoplasia type 2C	Limited	Autosomal recessive

Mondo (3): pontocerebellar hypoplasia (MONDO:0020135), pontocerebellar hypoplasia type 2C (MONDO:0012891), pontocerebellar hypoplasia type 2 (MONDO:0016759)

Orphanet (2): Non-syndromic pontocerebellar hypoplasia (Orphanet:98523), Pontocerebellar hypoplasia type 2 (Orphanet:2524)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000340	Sloping forehead
HP:0000505	Visual impairment
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001266	Choreoathetosis
HP:0001270	Motor delay
HP:0001320	Cerebellar vermis hypoplasia
HP:0001321	Cerebellar hypoplasia
HP:0001332	Dystonia
HP:0001999	Abnormal facial shape
HP:0002020	Gastroesophageal reflux
HP:0002033	Poor suck
HP:0002072	Chorea
HP:0002079	Hypoplasia of the corpus callosum
HP:0002104	Apnea
HP:0002119	Ventriculomegaly
HP:0002123	Generalized myoclonic seizure
HP:0002268	Paroxysmal dystonia
HP:0002350	Cerebellar cyst
HP:0002360	Sleep disturbance
HP:0002365	Hypoplasia of the brainstem
HP:0002536	Abnormal cortical gyration
HP:0002719	Recurrent infections
HP:0003487	Babinski sign
HP:0003558	Viral infection-induced rhabdomyolysis
HP:0006850	Hypoplasia of the ventral pons
HP:0006895	Lower limb hypertonia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001762_60	Obesity-related traits	3.000000e-08

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C580383	Pontocerebellar Hypoplasia (supp.)
C548070	Pontocerebellar Hypoplasia Type 2 (supp.)
C567324	Pontocerebellar Hypoplasia Type 2C (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation	3
sodium arsenite	increases expression, decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
aristolochic acid I	increases expression	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
Sunitinib	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Cisplatin	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	increases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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