TSEN15

Summary

TSEN15 (tRNA splicing endonuclease subunit 15, HGNC:16791) is a protein-coding gene on chromosome 1q25.3, encoding tRNA-splicing endonuclease subunit Sen15 (Q8WW01). Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA.

This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17.

Source: NCBI Gene 116461 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pontocerebellar hypoplasia, type 2F (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 43
• Clinical variants (ClinVar): 53 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 59
• MANE Select transcript: NM_052965

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16791
Approved symbol	TSEN15
Name	tRNA splicing endonuclease subunit 15
Location	1q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198860
Ensembl biotype	protein_coding
OMIM	608756
Entrez	116461

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 10 protein_coding, 8 nonsense_mediated_decay, 3 retained_intron

ENST00000361641, ENST00000367518, ENST00000423085, ENST00000457455, ENST00000462677, ENST00000485209, ENST00000533373, ENST00000643231, ENST00000643702, ENST00000643916, ENST00000644145, ENST00000644479, ENST00000644592, ENST00000644815, ENST00000645316, ENST00000645668, ENST00000645963, ENST00000646297, ENST00000647437, ENST00000647465, ENST00000942932

RefSeq mRNA: 5 — MANE Select: NM_052965 NM_001127394, NM_001300764, NM_001300766, NM_001363643, NM_052965

CCDS: CCDS1361, CCDS44286, CCDS72993, CCDS86038, CCDS91127

Canonical transcript exons

ENST00000645668 — 5 exons

Exon	Start	End
ENSE00001639873	184072827	184074212
ENSE00003516105	184054354	184054435
ENSE00003574526	184072157	184072298
ENSE00003676706	184054728	184054863
ENSE00003903743	184051730	184051890

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 95.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5591 / max 135.7973, expressed in 1815 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7197	18.7766	1813
7195	2.0402	927
7196	1.0854	724
7198	0.4536	227
7199	0.2034	69

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	95.97	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.84	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	93.67	gold quality
biceps brachii	UBERON:0001507	93.42	gold quality
vastus lateralis	UBERON:0001379	93.27	gold quality
quadriceps femoris	UBERON:0001377	93.20	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.97	gold quality
corpus epididymis	UBERON:0004359	92.69	gold quality
spinal cord	UBERON:0002240	92.67	gold quality
myocardium	UBERON:0002349	92.36	gold quality
muscle tissue	UBERON:0002385	91.83	gold quality
skeletal muscle tissue	UBERON:0001134	91.59	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.56	gold quality
deltoid	UBERON:0001476	91.45	gold quality
ventricular zone	UBERON:0003053	91.45	gold quality
gastrocnemius	UBERON:0001388	91.17	gold quality
muscle of leg	UBERON:0001383	91.01	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.69	gold quality
ganglionic eminence	UBERON:0004023	90.67	gold quality
substantia nigra	UBERON:0002038	90.49	gold quality
heart left ventricle	UBERON:0002084	90.48	gold quality
cardiac ventricle	UBERON:0002082	90.40	gold quality
tibialis anterior	UBERON:0001385	90.36	silver quality
cauda epididymis	UBERON:0004360	90.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.99	gold quality
islet of Langerhans	UBERON:0000006	89.96	gold quality
prefrontal cortex	UBERON:0000451	89.91	gold quality
smooth muscle tissue	UBERON:0001135	89.88	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.79	gold quality
midbrain	UBERON:0001891	89.77	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.38
E-MTAB-6142	no	205.20
E-MTAB-7303	no	140.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

104 targeting TSEN15, 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-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426

Literature-anchored findings (GeneRIF, showing 3)

• A candidate SNP associated with the tRNA-splicing protein gene TSEN15 was independently associated with the risk of atrial fibrillation. (PMID:24944287)
• results demonstrate that mutations in any known subunit of the TSEN complex can cause pontocerebellar hypoplasia and progressive microcephaly, emphasizing the importance of its function during brain development (PMID:27392077)
• Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia. (PMID:34584079)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tsen15	ENSDARG00000069280
mus_musculus	Tsen15	ENSMUSG00000014980
rattus_norvegicus	Tsen15	ENSRNOG00000002352

Protein

Protein identifiers

tRNA-splicing endonuclease subunit Sen15 — Q8WW01 (reviewed: Q8WW01)

Alternative names: SEN15 homolog, tRNA-intron endonuclease Sen15

All UniProt accessions (16): Q8WW01, A0A2R8Y5L0, A0A2R8Y5Q6, A0A2R8Y5W5, A0A2R8Y6A4, A0A2R8Y6B3, A0A2R8Y6M5, A0A2R8YDU8, A0A2R8YEM0, A0A2R8YG40, A0A2R8YHG0, A0A2U3TZM3, B1ALV0, E9PPN1, F2Z3M0, H0YCV5

UniProt curated annotations — full annotation on UniProt →

Function. Non-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. 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. Homodimer. 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.

Tissue specificity. Widely expressed. Highly expressed in testis and uterus.

Disease relevance. Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026] A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SEN15 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WW01-1	1	yes
Q8WW01-2	2

RefSeq proteins (5): NP_001120866, NP_001287693, NP_001287695, NP_001350572, NP_443197* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011856	tRNA_endonuc-like_dom_sf	Homologous_superfamily
IPR018593	tRNA-endonuc_su_Sen15	Domain
IPR036167	tRNA_intron_Endo_cat-like_sf	Homologous_superfamily

Pfam: PF09631

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 (26 total): strand 9, sequence variant 5, helix 4, turn 2, modified residue 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

7 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
2GW6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WW01-F1	78.42	0.42

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 (2): 7, 168

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: 227 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_RNA_SPLICING_VIA_ENDONUCLEOLYTIC_CLEAVAGE_AND_LIGATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_RNA_SPLICING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, BASAKI_YBX1_TARGETS_UP, ACEVEDO_LIVER_CANCER_UP, GOBP_TRNA_PROCESSING, REACTOME_METABOLISM_OF_RNA, SENESE_HDAC3_TARGETS_DN

GO Biological Process (3): tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388), mRNA processing (GO:0006397), tRNA processing (GO:0008033)

GO Molecular Function (3): nucleic acid binding (GO:0003676), endonuclease activity (GO:0004519), protein binding (GO:0005515)

GO Cellular Component (3): 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	2
binding	2
nuclear lumen	2
RNA splicing, via endonucleolytic cleavage and ligation	1
tRNA processing	1
mRNA metabolic process	1
tRNA metabolic process	1
nuclease activity	1
cellular anatomical structure	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSEN15	TSEN2	Q8NCE0	999
TSEN15	TSEN54	Q7Z6J9	999
TSEN15	TSEN34	Q9BSV6	999
TSEN15	CLP1	Q92989	547
TSEN15	RTCB	Q9Y3I0	497
TSEN15	TOE1	Q96GM8	472
TSEN15	RARS2	Q5T160	467
TSEN15	MOB2	Q70IA6	454
TSEN15	TECTB	Q96PL2	413
TSEN15	ARL1	P40616	398
TSEN15	HSPBP1	Q9NZL4	392
TSEN15	SEPSECS	Q9HD40	383
TSEN15	MRFAP1	Q9Y605	382
TSEN15	UNKL	Q9H9P5	380
TSEN15	TRMO	Q9BU70	377

IntAct

123 interactions, top by confidence:

A	B	Type	Score
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
PSMC3	PSMD12	psi-mi:“MI:0914”(association)	0.640
RAB15	RAP1GDS1	psi-mi:“MI:0914”(association)	0.640
	TSEN15	psi-mi:“MI:0915”(physical association)	0.600
TSEN15		psi-mi:“MI:0915”(physical association)	0.600
CLP1	PCF11	psi-mi:“MI:0914”(association)	0.590
TSEN15	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	ZNF620	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	LRIF1	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	MEI4	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
TLE5	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
POU6F2	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
MIPOL1	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
REL	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	IKZF3	psi-mi:“MI:0915”(physical association)	0.560
USP54	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
INCA1	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
PHOSPHO2	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	TSSK2	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
TSEN15	ZMAT2	psi-mi:“MI:0915”(physical association)	0.560
ZNF620	TSEN15	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (78): TSEN15 (Affinity Capture-MS), TSEN15 (Two-hybrid), TSEN2 (Affinity Capture-MS), MINK1 (Affinity Capture-MS), RANGRF (Affinity Capture-MS), TSEN34 (Affinity Capture-MS), TSEN54 (Affinity Capture-MS), CLP1 (Affinity Capture-MS), USP7 (Affinity Capture-MS), TSEN15 (Affinity Capture-MS), TSEN15 (Affinity Capture-RNA), TSEN15 (Affinity Capture-MS), TSEN15 (Affinity Capture-MS), CLP1 (Affinity Capture-MS), TSEN2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUV1, A0A1B0GVM6, A6NIU2, B9VXI8, C0HLZ6, C9J3V5, D3ZF18, F1MQW7, G3UWD5, J3QM76, O70738, P03294, P0DXO0, P0DXO1, P12064, P22962, P27070, P27982, P31628, P33460, P50892, P53186, P61580, P61581, P61582, P61583, Q04221, Q10027, Q16048, Q1T7F1, Q3E795, Q494R0, Q5BIS3, Q5BKH3, Q5K130, Q5YCU8, Q5ZKB1, Q67BS9, Q6ZSB3, Q6ZUT4

Diamond homologs: Q8R3W5, Q8WW01

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	24
Likely benign	10
Benign	9

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
243000	NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys)	Pathogenic
243001	NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)	Likely pathogenic

SpliceAI

599 predictions. Top by Δscore:

Variant	Effect	Δscore
1:184054352:A:AC	acceptor_loss	1.0000
1:184054352:A:AG	acceptor_gain	1.0000
1:184054353:G:GA	acceptor_gain	1.0000
1:184054353:GT:G	acceptor_gain	1.0000
1:184054353:GTAT:G	acceptor_gain	1.0000
1:184054431:GGAAA:G	donor_gain	1.0000
1:184054432:GAAA:G	donor_gain	1.0000
1:184054432:GAAAG:G	donor_gain	1.0000
1:184054433:A:T	donor_gain	1.0000
1:184054433:AAA:A	donor_gain	1.0000
1:184054433:AAAG:A	donor_loss	1.0000
1:184054434:AA:A	donor_gain	1.0000
1:184054435:AG:A	donor_loss	1.0000
1:184054436:G:GG	donor_gain	1.0000
1:184054437:TAA:T	donor_loss	1.0000
1:184051864:G:GT	donor_gain	0.9900
1:184051896:G:GT	donor_gain	0.9900
1:184054345:A:AG	acceptor_gain	0.9900
1:184054346:A:G	acceptor_gain	0.9900
1:184054353:GTA:G	acceptor_gain	0.9900
1:184070729:C:G	donor_gain	0.9900
1:184054353:GTATC:G	acceptor_gain	0.9800
1:184054440:GTT:G	donor_gain	0.9800
1:184070733:G:GG	donor_gain	0.9800
1:184070738:G:GT	donor_gain	0.9800
1:184051855:GCCCC:G	donor_gain	0.9700
1:184051886:CTAAG:C	donor_loss	0.9700
1:184051887:TAAG:T	donor_loss	0.9700
1:184051888:AAGGT:A	donor_loss	0.9700
1:184051889:AG:A	donor_loss	0.9700

AlphaMissense

1115 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:184054736:T:A	W76R	0.998
1:184054736:T:C	W76R	0.998
1:184072228:C:A	A142D	0.998
1:184054427:T:C	L70P	0.997
1:184054830:C:A	P107H	0.997
1:184072231:T:A	I143K	0.997
1:184072255:T:A	V151D	0.997
1:184054415:T:A	V66D	0.996
1:184054421:T:C	L68P	0.996
1:184072245:T:C	S148P	0.996
1:184072279:T:C	F159S	0.996
1:184054406:C:A	A63E	0.995
1:184054738:G:C	W76C	0.995
1:184054738:G:T	W76C	0.995
1:184054830:C:G	P107R	0.995
1:184072242:G:C	D147H	0.995
1:184072249:C:T	T149I	0.995
1:184072267:T:C	L155P	0.995
1:184072276:G:A	G158E	0.995
1:184054427:T:A	L70H	0.994
1:184054790:G:C	G94R	0.994
1:184072231:T:G	I143R	0.994
1:184072243:A:T	D147V	0.994
1:184072257:T:G	Y152D	0.994
1:184054785:T:C	L92P	0.993
1:184054791:G:A	G94D	0.993
1:184072225:T:C	L141S	0.993
1:184051884:C:A	H43Q	0.992
1:184051884:C:G	H43Q	0.992
1:184054417:T:G	Y67D	0.992

dbSNP variants (sampled 300 via entrez): RS1000018781 (1:184072672 C>A,G,T), RS1000021141 (1:184085409 A>G), RS1000022437 (1:184067594 A>G), RS1000069664 (1:184072484 A>T), RS1000131615 (1:184075001 C>T), RS1000175858 (1:184097874 G>A), RS1000206645 (1:184053436 C>A,T), RS1000285694 (1:184052995 A>C), RS1000321072 (1:184097247 T>C), RS1000347850 (1:184081606 C>G,T), RS1000363998 (1:184060062 G>T), RS1000453386 (1:184089072 G>A), RS1000503395 (1:184057045 T>A), RS1000592338 (1:184055168 C>T), RS1000605380 (1:184057789 C>G)

Disease associations

OMIM: gene MIM:608756 | disease phenotypes: MIM:617026

GenCC curated gene-disease

Disease	Classification	Inheritance
pontocerebellar hypoplasia, type 2F	Strong	Autosomal recessive
pontocerebellar hypoplasia type 2	Supportive	Autosomal recessive

Mondo (2): pontocerebellar hypoplasia, type 2F (MONDO:0014874), pontocerebellar hypoplasia type 2 (MONDO:0016759)

Orphanet (1): Pontocerebellar hypoplasia type 2 (Orphanet:2524)

HPO phenotypes

59 total (30 of 59 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000253	Progressive microcephaly
HP:0000340	Sloping forehead
HP:0000486	Strabismus
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001266	Choreoathetosis
HP:0001270	Motor delay
HP:0001320	Cerebellar vermis hypoplasia
HP:0001321	Cerebellar hypoplasia
HP:0001347	Hyperreflexia
HP:0001999	Abnormal facial shape
HP:0002020	Gastroesophageal reflux
HP:0002033	Poor suck
HP:0002079	Hypoplasia of the corpus callosum
HP:0002104	Apnea
HP:0002119	Ventriculomegaly
HP:0002120	Cerebral cortical atrophy
HP:0002123	Generalized myoclonic seizure
HP:0002194	Delayed gross motor development
HP:0002268	Paroxysmal dystonia
HP:0002350	Cerebellar cyst
HP:0002360	Sleep disturbance
HP:0002365	Hypoplasia of the brainstem

GWAS associations

43 associations (top):

Study	Trait	p-value
GCST000175_36	Height	8.000000e-09
GCST000817_27	Height	2.000000e-31
GCST004063_32	Waist circumference adjusted for body mass index	4.000000e-06
GCST004063_43	Waist circumference adjusted for body mass index	2.000000e-12
GCST004063_54	Waist circumference adjusted for body mass index	7.000000e-09
GCST004067_203	Hip circumference adjusted for BMI	3.000000e-07
GCST004067_6	Hip circumference adjusted for BMI	6.000000e-10
GCST004500_107	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	3.000000e-14
GCST004500_62	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	5.000000e-10
GCST004500_9	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	5.000000e-07
GCST004501_78	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-15
GCST004501_79	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-10
GCST004501_80	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	9.000000e-07
GCST004504_26	Waist circumference adjusted for BMI in non-smokers	8.000000e-06
GCST004504_27	Waist circumference adjusted for BMI in non-smokers	6.000000e-13
GCST004504_28	Waist circumference adjusted for BMI in non-smokers	4.000000e-09
GCST004562_194	Waist circumference adjusted for body mass index	7.000000e-09
GCST004562_258	Waist circumference adjusted for body mass index	4.000000e-12
GCST004562_81	Waist circumference adjusted for body mass index	4.000000e-12
GCST004563_147	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	9.000000e-06
GCST004563_159	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	2.000000e-08
GCST004563_219	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	6.000000e-13
GCST004563_41	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	3.000000e-06
GCST004564_104	Waist circumference adjusted for BMI in active individuals	2.000000e-06
GCST004564_105	Waist circumference adjusted for BMI in active individuals	4.000000e-07
GCST004564_106	Waist circumference adjusted for BMI in active individuals	2.000000e-07
GCST004565_9	Waist circumference adjusted for BMI in inactive individuals	7.000000e-07
GCST006993_2	Hippocampal volume in Alzheimer’s disease dementia	3.000000e-07
GCST007294_140	Body fat distribution (trunk fat ratio)	5.000000e-23
GCST007294_164	Body fat distribution (trunk fat ratio)	8.000000e-17

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0005035	hippocampal volume
EFO:0004341	body fat distribution
EFO:0008328	chronotype measurement

MeSH disease descriptors (1)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Tetrachlorodibenzodioxin	decreases expression	2
Cyclosporine	increases expression	2
Particulate Matter	decreases reaction, increases expression, affects cotreatment, increases abundance	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
cobaltous chloride	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	1
isobutyl alcohol	increases expression, affects cotreatment, increases abundance	1
cylindrospermopsin	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
ICG 001	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Bortezomib	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Atrazine	decreases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Cadmium	decreases expression	1
Carbamazepine	affects expression	1
Coumestrol	increases expression	1
Demecolcine	decreases expression	1
Diethylstilbestrol	increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Hydrogen Peroxide	increases expression	1
Nickel	increases expression	1

Clinical trials (associated diseases)

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