CEND1

Summary

CEND1 (cell cycle exit and neuronal differentiation 1, HGNC:24153) is a protein-coding gene on chromosome 11p15.5, encoding Cell cycle exit and neuronal differentiation protein 1 (Q8N111). Involved in neuronal differentiation.

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene.

Source: NCBI Gene 51286 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 44 total
• GTEx eGene: eQTL in 13 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.48 (intermediate), LOEUF 1.19 (unconstrained)
• MANE Select transcript: NM_016564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24153
Approved symbol	CEND1
Name	cell cycle exit and neuronal differentiation 1
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90066, BM88
Ensembl gene	ENSG00000184524
Ensembl biotype	protein_coding
OMIM	608213
Entrez	51286

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000330106

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1

ENST00000330106, ENST00000524587, ENST00000901135, ENST00000901136, ENST00000901137, ENST00000966810, ENST00001143691

RefSeq mRNA: 1 — MANE Select: NM_016564 NM_016564

CCDS: CCDS7714

Canonical transcript exons

ENST00000330106 — 2 exons

Exon	Start	End
ENSE00001299073	787115	788658
ENSE00001312569	790030	790090

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 98.97.

FANTOM5 (CAGE): breadth broad, TPM avg 16.9422 / max 713.4368, expressed in 787 samples.

Highest expression (Bgee): hemisphere of cerebellum, frontal lobe, cerebellar hemisphere, cerebellar cortex, anterior cingulate cortex.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CEND1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Heart Left Ventricle	eqtl	4.7e-18	-0.50	11:780321:C:CTG
Esophagus Muscularis	eqtl	2.7e-15	-0.30	11:780321:C:CTG
Heart Atrial Appendage	eqtl	3.6e-12	-0.48	11:780321:C:CTG
Cells EBV-transformed lymphocytes	eqtl	1.0e-08	-0.32	11:780321:C:CTG
Cells Cultured fibroblasts	eqtl	1.9e-08	-0.29	11:790418:G:A
Prostate	eqtl	5.7e-05	-0.26	11:780321:C:CTG
Esophagus Mucosa	eqtl	3.6e-03	+0.24	11:774568:C:T
Lung	eqtl	3.9e-03	+0.26	11:807219:T:C
Thyroid	eqtl	6.0e-03	-0.20	11:780321:C:CTG
Esophagus Gastroesophageal Junction	eqtl	8.0e-03	+0.18	11:403484:G:C
Whole Blood	eqtl	4.2e-02	-0.16	11:780321:C:CTG
Pancreas	eqtl	4.5e-02	+0.68	11:1577235:T:A
Stomach	eqtl	4.8e-02	+0.16	11:743813:T:C

FANTOM5 promoters

4 alternative TSS:

Promoter ID	TPM avg	Samples expressed
117821	16.8587	784
117818	0.0466	24
117819	0.0228	5
117820	0.0140	4

Top tissues by expression

showing 100 of 271 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.97	gold quality
right frontal lobe	UBERON:0002810	98.96	gold quality
cerebellar hemisphere	UBERON:0002245	98.71	gold quality
cerebellar cortex	UBERON:0002129	98.68	gold quality
anterior cingulate cortex	UBERON:0009835	98.28	gold quality
cingulate cortex	UBERON:0003027	98.27	gold quality
prefrontal cortex	UBERON:0000451	97.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.89	gold quality
cerebellum	UBERON:0002037	97.88	gold quality
nucleus accumbens	UBERON:0001882	97.35	gold quality
putamen	UBERON:0001874	97.11	gold quality
caudate nucleus	UBERON:0001873	96.93	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.69	gold quality
amygdala	UBERON:0001876	96.68	gold quality
frontal cortex	UBERON:0001870	96.42	gold quality
neocortex	UBERON:0001950	96.05	gold quality
hypothalamus	UBERON:0001898	95.35	gold quality
telencephalon	UBERON:0001893	94.85	gold quality
cerebral cortex	UBERON:0000956	94.63	gold quality
cerebellar vermis	UBERON:0004720	94.63	gold quality
brain	UBERON:0000955	94.35	gold quality
forebrain	UBERON:0001890	94.16	gold quality
substantia nigra	UBERON:0002038	94.04	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.92	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.81	gold quality
midbrain	UBERON:0001891	93.34	gold quality
Ammon’s horn	UBERON:0001954	93.03	gold quality
temporal lobe	UBERON:0001871	92.73	gold quality
pons	UBERON:0000988	92.60	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	92.44	gold quality
spinal cord	UBERON:0002240	92.38	gold quality
postcentral gyrus	UBERON:0002581	91.53	gold quality
inferior olivary complex	UBERON:0002127	91.31	gold quality
superior frontal gyrus	UBERON:0002661	91.30	gold quality
parietal lobe	UBERON:0001872	91.29	gold quality
substantia nigra pars compacta	UBERON:0001965	91.09	gold quality
adenohypophysis	UBERON:0002196	89.28	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.03	gold quality
primary visual cortex	UBERON:0002436	88.84	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.70	gold quality
occipital lobe	UBERON:0002021	88.64	gold quality
orbitofrontal cortex	UBERON:0004167	87.69	gold quality
cranial nerve II	UBERON:0000941	87.52	gold quality
entorhinal cortex	UBERON:0002728	87.39	gold quality
pituitary gland	UBERON:0000007	87.25	gold quality
lateral globus pallidus	UBERON:0002476	87.25	gold quality
dorsal plus ventral thalamus	UBERON:0001897	86.28	gold quality
ventral tegmental area	UBERON:0002691	86.16	gold quality
cortical plate	UBERON:0005343	85.78	gold quality
medulla oblongata	UBERON:0001896	85.69	gold quality
triceps brachii	UBERON:0001509	85.54	gold quality
superior vestibular nucleus	UBERON:0007227	84.80	gold quality
dorsal root ganglion	UBERON:0000044	83.84	gold quality
tendon of biceps brachii	UBERON:0008188	83.67	silver quality
inferior vagus X ganglion	UBERON:0005363	83.59	gold quality
gluteal muscle	UBERON:0002000	83.07	gold quality
olfactory bulb	UBERON:0002264	82.70	gold quality
ventricular zone	UBERON:0003053	82.59	gold quality
type B pancreatic cell	CL:0000169	82.42	gold quality
subthalamic nucleus	UBERON:0001906	82.27	silver quality
ganglionic eminence	UBERON:0004023	82.25	gold quality
buccal mucosa cell	CL:0002336	82.02	gold quality
trigeminal ganglion	UBERON:0001675	81.70	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.18	gold quality
middle temporal gyrus	UBERON:0002771	81.12	gold quality
CA1 field of hippocampus	UBERON:0003881	80.72	silver quality
globus pallidus	UBERON:0001875	80.12	gold quality
adult organism	UBERON:0007023	79.62	gold quality
endothelial cell	CL:0000115	79.39	silver quality
parotid gland	UBERON:0001831	79.23	gold quality
male germ cell	CL:0000015	78.82	gold quality
medial globus pallidus	UBERON:0002477	78.63	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.47	gold quality
sperm	CL:0000019	78.34	gold quality
myocardium	UBERON:0002349	77.73	gold quality
biceps brachii	UBERON:0001507	77.34	gold quality
nasal cavity epithelium	UBERON:0005384	77.34	gold quality
embryo	UBERON:0000922	76.08	gold quality
choroid plexus epithelium	UBERON:0003911	75.72	silver quality
trabecular bone tissue	UBERON:0002483	75.49	gold quality
vena cava	UBERON:0004087	75.16	gold quality
vastus lateralis	UBERON:0001379	75.13	gold quality
quadriceps femoris	UBERON:0001377	74.95	gold quality
diaphragm	UBERON:0001103	74.59	gold quality
pancreatic ductal cell	CL:0002079	74.57	silver quality
oocyte	CL:0000023	74.51	gold quality
cervix squamous epithelium	UBERON:0006922	74.11	gold quality
pericardium	UBERON:0002407	73.84	gold quality
trachea	UBERON:0003126	73.75	gold quality
nipple	UBERON:0002030	73.42	gold quality
corpus callosum	UBERON:0002336	73.19	gold quality
saphenous vein	UBERON:0007318	73.16	gold quality
left ventricle myocardium	UBERON:0006566	73.14	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.88	gold quality
lower esophagus	UBERON:0013473	72.72	gold quality
colonic epithelium	UBERON:0000397	72.63	gold quality
thymus	UBERON:0002370	72.50	gold quality
body of tongue	UBERON:0011876	72.50	gold quality
cardia of stomach	UBERON:0001162	72.27	gold quality
cardiac muscle of right atrium	UBERON:0003379	72.13	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	15.86
E-HCAD-25	yes	7.75
E-ANND-3	no	0.47

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 61 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Postcentral gyrus	tissue	541.2
Frontal cortex	tissue	299.7
Cerebral cortex	tissue	261.2	high
Somatosensory cortex	tissue	261.2
Pons	tissue	257.4
Superior colliculi	tissue	250.7
Thalamus	tissue	244.3
Occipital cortex	tissue	236.9
Caudate putamen	tissue	221.4
Motor cortex	tissue	219.4
Putamen	tissue	193.5
Hippocampal formation	tissue	191.7
Locus coeruleus	tissue	191.5
Retrosplenial and cingulate cortex	tissue	190.4
Midbrain	tissue	186.4
Hippocampus	tissue	186.0	high
Retrosplenial cortex	tissue	181.0
Prefrontal cortex	tissue	180.8
Medulla oblongata	tissue	179.7
Temporal cortex	tissue	174.2
Entorhinal cortex	tissue	173.5
Basal ganglia	tissue	163.7	medium
Substantia nigra	tissue	157.9
Insular cortex	tissue	151.6
Ventral forebrain	tissue	149.2
Nucleus accumbens	tissue	137.5
Spinal cord	tissue	134.9
Cerebellum	tissue	126.7	high
Septum	tissue	125.5
Periaqueductal gray	tissue	115.1
Hypothalamus	tissue	114.4
Amygdala	tissue	105.6
Olfactory bulb	tissue	103.6
Choroid plexus	tissue	95.2
Corpus callosum	tissue	44.5
Pituitary gland	tissue	25.1
Retina	tissue	7.0
Adrenal gland	tissue	5.1	not detected
Seminal vesicle	tissue	1.4	not detected
Prostate	tissue	1.1	not detected
Appendix	tissue	1.0	high
Vagina	tissue	0.9	not detected
Small intestine	tissue	0.8	not detected
Duodenum	tissue	0.6	not detected
Smooth muscle	tissue	0.4	not detected
Colon	tissue	0.4	high
Heart muscle	tissue	0.3	not detected
Esophagus	tissue	0.3	not detected
Parathyroid gland	tissue	0.3	not detected
Lymph node	tissue	0.2	not detected
Urinary bladder	tissue	0.2	not detected
Epididymis	tissue	0.2	not detected
Kidney	tissue	0.2	not detected
Skin 1	tissue	0.1	not detected
Testis	tissue	0.1	not detected
Stomach 1	tissue	0.1	not detected
Adipose tissue	tissue	0.1	not detected
Rectum	tissue	0.1	low
Pancreas	tissue	0.1	not detected
Endometrium 1	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Precentral gyrus (455.3), Supplementary motor cortex (326.3), Paracentral lobule, anterior (321.9), Postcentral gyrus, middle (321.5), Frontal eye field (299.2).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

Targeting CEND1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

21 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-3650	97.88	64.89	693
HSA-MIR-2278	97.30	66.19	1130
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-6815-5P	96.05	65.55	662
HSA-MIR-6865-5P	96.05	65.58	675
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457

Functional genomics

gnomAD constraint: pLI 0.483, LOEUF 1.19, missense Z -0.974 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000330106 — one region, missense o/e 1.06.

Literature-anchored findings (GeneRIF, showing 4)

• BM88/Cend1 participates in cell cycle control and neuronal differentiation mechanisms during neonatal SVZ neurogenesis and becomes crucial for the transition from neuroblasts to mature neurons when reaching high levels (PMID:18499894)
• Interaction of CEND1 gene and life events in susceptibility to depressive symptoms in Chinese Han college students. (PMID:33027701)
• Cend1 and Neurog2 efficiently reprogram human cortical astrocytes to neural precursor cells and induced-neurons. (PMID:34549796)
• CEND1 and miR885 methylation changes associated with successful cognitive aging in community-dwelling older adults. (PMID:35045349)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cend1	ENSMUSG00000060240
rattus_norvegicus	Cend1	ENSRNOG00000062814

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1929898) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 8 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal cerebellum external granule cell layer morphology	1
thin cerebellar molecular layer	1
impaired coordination	1
abnormal gait	1
abnormal Purkinje cell dendrite morphology	1
abnormal neuron proliferation	1
abnormal cerebellar granule cell migration	1
long stride length	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Sus scrofa	Q29026	63.8%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
GATD1-DT	ncRNA	171391
PIDD1	protein-coding	55367
PNPLA2	protein-coding	57104
RPLP2	protein-coding	6181
SNORA52	snoRNA	619565
SLC25A22	protein-coding	79751
PANO1	protein-coding	101927423
GATD1	protein-coding	347862
TALDO1	protein-coding	6888

Protein

Protein identifiers

Cell cycle exit and neuronal differentiation protein 1 — Q8N111 (reviewed: Q8N111)

Alternative names: BM88 antigen

All UniProt accessions (1): Q8N111

UniProt curated annotations — full annotation on UniProt →

Function. Involved in neuronal differentiation.

Subunit / interactions. Homodimer. Interacts with AHI1.

Subcellular location. Membrane.

Tissue specificity. Neuron specific.

Similarity. Belongs to the CEND1 family.

RefSeq proteins (1): NP_057648* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020162	Cend1	Family

Pfam: PF15677

UniProt features (10 total): topological domain 2, compositionally biased region 2, modified residue 2, chain 1, transmembrane region 1, region of interest 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N111-F1	60.87	0.11

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): mitochondria

Antibody reliability (HPA): IH enhanced · IF approved

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)

Type	Positions
Phosphoserine	10, 87

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 104 (showing top): GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_BEHAVIOR, LFA1_Q6, GOBP_ADULT_BEHAVIOR, GOBP_CEREBELLAR_PURKINJE_CELL_LAYER_FORMATION, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, NFKB_Q6, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, NKX62_Q2, GOBP_CEREBELLAR_GRANULAR_LAYER_DEVELOPMENT

GO Biological Process (6): cerebellar granular layer maturation (GO:0021686), cerebellar Purkinje cell differentiation (GO:0021702), radial glia guided migration of cerebellar granule cell (GO:0021933), cerebellum development (GO:0021549), cell differentiation (GO:0030154), neuron differentiation (GO:0030182)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): membrane (GO:0016020), mitochondrion (GO:0005739), vesicle (GO:0031982)

GO top-level categories

18 GO namespaces:

Category	Terms
cerebellar granular layer development	1
cerebellar cortex maturation	1
anatomical structure maturation	1
cell differentiation in hindbrain	1
cerebellar Purkinje cell layer formation	1
central nervous system neuron differentiation	1
GABAergic neuron differentiation	1
hindbrain radial glia guided cell migration	1
metencephalon development	1
animal gross anatomical part developmental process	1
cellular developmental process	1
cell differentiation	1
generation of neurons	1
binding	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

showing 15 of 1,004 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEND1	SRC	P12931	504
CEND1	SDR42E1	Q8WUS8	460
CEND1	AHI1	Q8N157	449
CEND1	KLHL35	Q6PF15	444
CEND1	C11orf42	Q8N5U0	396
CEND1	DIPK1A	Q5T7M9	386
CEND1	SPEF1	Q9Y4P9	376
CEND1	CDH22	Q9UJ99	368
CEND1	SSH3	Q8TE77	365
CEND1	TESC	Q96BS2	364
CEND1	NACAD	O15069	357
CEND1	FRMPD4	Q14CM0	345
CEND1	SMCR8	Q8TEV9	344
CEND1	CLEC2L	P0C7M8	341
CEND1	YPEL5	P62699	337

IntAct

Human interaction partners of CEND1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

6 partners by confidence:

Partner	Interaction type	MIscore	Records
MAGED4B	physical association	0.560	3
MFF	physical association	0.560	3
EGFR	physical association	0.550	2
GLP1R	physical association	0.510	2
ERBB2	physical association	0.370	1
UBQLN4	physical association	0.000	1

BioGRID (13 interactions; top human partners by supporting records): GLP1R (PCA; 2 records), EGFR (PCA), ERBB2 (Two-hybrid), HMGN3 (Cross-Linking-MS (XL-MS)), HNRNPH1 (Affinity Capture-RNA), JUN (Affinity Capture-MS), MAGED4B (Two-hybrid), MAPT (Affinity Capture-MS), MFF (Two-hybrid), PRNP (Affinity Capture-MS), TRIM67 (Affinity Capture-MS), UBQLN4 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for CEND1: 44 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	3
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 141):

Position(s)	Effect	Δscore	Sites
11:788659–788660	acceptor_loss	0.9800	6
11:790028–790029	donor_loss	0.9700	5
11:790044	donor_gain	0.9700
11:790029	donor_loss	0.9600
11:789330	donor_gain	0.9500
11:790027	donor_loss	0.9500
11:790023	donor_gain	0.9400
11:790027	donor_loss	0.9300
11:790045	donor_gain	0.9300
11:789319	donor_gain	0.9200

AlphaMissense

117 missense substitutions predicted likely pathogenic (of 948 scored), across 51 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H75	7	0.739	0.869
K79	5	0.765	0.867
K149	5	0.723	0.847
G129	4	0.903	0.946
S76	4	0.872	0.931
F144	4	0.831	0.842
K148	4	0.770	0.855
N74	4	0.760	0.866
K12	4	0.697	0.782
G141	3	0.872	0.968
S10	3	0.865	0.865
L138	3	0.847	0.894
S9	3	0.805	0.805
I139	3	0.799	0.898
L140	3	0.788	0.882
N73	3	0.737	0.747
R4	3	0.628	0.654
I136	2	0.889	0.906
A134	2	0.887	0.953
A137	2	0.875	0.964

HPA cancer prognostics

RNA cancer specificity: Group enriched (Glioblastoma Multiforme, Kidney Chromophobe)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Glioblastoma Multiforme (TCGA)	unfavorable	2.38e-05
Pancreatic Adenocarcinoma (TCGA)	favorable	0.000327

Disease associations

OMIM: gene MIM:608213 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST90013442_17	Keratoconus	1e-26

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects expression	3
(+)-JQ1 compound	increases expression	2
aristolochic acid I	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
butyraldehyde	increases expression	1
beta-methylcholine	affects expression	1
pentanal	increases expression	1
abrine	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	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cannabidiol	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Dexamethasone	increases expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Potassium Dichromate	increases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

22 trials:

NCT	Phase	Status	Title
NCT03347526	Phase 3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	Phase 3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT06719141	Phase 3	ACTIVE_NOT_RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	Phase 3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT07723976	Phase 3	NOT_YET_RECRUITING	A Study to Evaluate the Safety and Efficacy of CBD-OS in Participants With DEE
NCT04289467	Phase 2	RECRUITING	Treatment of Refractory Infantile Spasms With Fenfluramine
NCT05626634	Phase 2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT04727970	Phase 1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT06700811	Phase 1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT03876444	Phase 2/3	UNKNOWN	Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms
NCT05279118	Phase 2/3	UNKNOWN	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT05364021	Phase 1/2	COMPLETED	Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
NCT06983158	Phase 1/2	TERMINATED	A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
NCT04937062	Early Phase 1	ACTIVE_NOT_RECRUITING	Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05538936	Not specified	COMPLETED	The Effect of Spa and Massage on Babies on Colic Symptoms
NCT06149663	Not specified	AVAILABLE	Intermediate-Size Expanded Access Protocol (EAP) for LP352
NCT06266234	Not specified	RECRUITING	Characterization by Automated System on Infantile Spasmes
NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT07396883	Not specified	NOT_YET_RECRUITING	Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
NCT07413211	Not specified	RECRUITING	Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
NCT07585643	Not specified	NOT_YET_RECRUITING	IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).