Alcoholic pancreatitis

Summary

Alcoholic pancreatitis (MONDO:0003232) is a disease with 75 cohort genes (159 GWAS associations across 3 studies) and 1 clinical trial. The dominant Reactome pathway is Uptake of dietary cobalamins into enterocytes (3 cohort genes). Top therapeutic interventions include pentoxifylline.

At a glance

• Cohort genes: 75
• GWAS associations: 159
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	alcoholic pancreatitis
Mondo ID	MONDO:0003232
EFO	EFO:1002013
MeSH	D019512
DOID	DOID:4988
SNOMED CT	445507008
UMLS	C0376670
MedGen	84027
Is cancer (heuristic)	no

Also known as: alcoholic pancreatitis

Data availability: 159 GWAS associations (3 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › digestive system disorder › pancreas disorder › pancreatitis › alcoholic pancreatitis

Related subtypes (4): chronic pancreatitis, thiopurine immunosuppressant-induced pancreatitis, acute pancreatitis, autoimmune pancreatitis

Genetics & variants

GWAS landscape

159 GWAS associations across 3 studies. Top hits map to 12 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2855983	5e-40	PRSS2	?	1.84
rs12688091	1e-32	NUP62CL	?	2.57
rs4726575	9e-32	TRBV29-1 - PRSS1	?	1.77
rs7057398	2e-29	CLDN2, MORC4, RIPPLY1	?	2.28
rs55833042	3e-29	PRSS1 - PRSS2	?	1.76
rs6953502	2e-25	PGBD4P1 - TRBV29-1	?	1.6
rs148655558	1e-24	RNF128	?	2.22
rs78907924	2e-23	PRSS2 - WBP1LP1	?	2.04
rs58854468	4e-23	PRSS2	?	1.91
rs2734221	1e-22	WBP1LP1	?	1.53
rs4726580	1e-22	PRSS2, PRSS3P1	?	1.67
rs3857776	2e-22	PRSS1	?	1.69
rs545634	3e-22	CTRC	?	1.83
rs35031873	6e-22	PRSS1 - PRSS2	?	1.67
rs138700403	2e-21	PRSS2	?	1.8
rs6464530	6e-21	PRSS2	?	1.88
rs4145394	9e-21	PRSS2	?	1.81
rs66491909	6e-20	RNF128	?	2.14
rs60095957	8e-20	TRBV29-1 - PRSS1	?	1.54
rs12014762	2e-19	MORC4	?	2.22
rs73742446	4e-19	PRSS2	?	2.01
rs144184641	7e-19	PRSS2 - WBP1LP1	?	1.9
rs11762011	2e-18	PRSS2 - WBP1LP1	?	1.74
rs149506335	2e-18	PRSS2 - WBP1LP1	?	1.78
rs192514996	5e-18	PRSS2 - WBP1LP1	?	2.1
rs73742434	8e-18	PRSS2	?	1.67
rs4457242	8e-18	PRSS2 - WBP1LP1	?	1.63
rs147767607	1e-17	PRSS2	?	1.73
rs1285582	2e-17	NUP62CL	?	1.92
rs10243591	1e-16	PGBD4P1 - TRBV29-1	?	1.47

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST004860	Rosendahl J	2017	1,959	1,488	Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.
GCST004757	Treutlein J	2017	1,331	3,684	Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
GCST004755	Treutlein J	2017	1,110	1,750	Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	3
Tier 4: intronic/intergenic	45

MAF distribution

Bucket	Variants
common (>=0.05)	31
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	19

Functional consequences

Consequence	Count
intron_variant	23
intergenic_variant	15
unknown	5
regulatory_region_variant	3
non_coding_transcript_exon_variant	1
3_prime_UTR_variant	1
missense_variant	1
synonymous_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2855983	7	142770582	A>C,G	0.05	intron_variant	PRSS2	5e-40	Tier 4: intronic/intergenic
rs12688091	X	107131628	G>A	0.05	intron_variant	NUP62CL	1e-32	Tier 4: intronic/intergenic
rs4726575	7	142747017	T>A,C,G	0.05	intergenic_variant	TRBV29-1 - PRSS1	9e-32	Tier 4: intronic/intergenic
rs7057398	X	106901299	T>C,G	0.05	intron_variant	CLDN2, MORC4, RIPPLY1	2e-29	Tier 4: intronic/intergenic
rs55833042	7	142758924	C>A	0.05	intergenic_variant	PRSS1 - PRSS2	3e-29	Tier 4: intronic/intergenic
rs6953502	7	142723525	C>G,T	0.05	intergenic_variant	PGBD4P1 - TRBV29-1	2e-25	Tier 4: intronic/intergenic
rs148655558	X	106768355			intron_variant	RNF128	1e-24	Tier 4: intronic/intergenic
rs78907924	7	142777210	G>A		intergenic_variant	PRSS2 - WBP1LP1	2e-23	Tier 4: intronic/intergenic
rs58854468	7	142773734	C>T		intron_variant	PRSS2	4e-23	Tier 4: intronic/intergenic
rs2734221	7	142779536	A>C,G,T	0.05	non_coding_transcript_exon_variant	WBP1LP1	1e-22	Tier 4: intronic/intergenic
rs4726580	7	142762217	T>C	0.05	intron_variant	PRSS2, PRSS3P1	1e-22	Tier 4: intronic/intergenic
rs3857776	7	142751439	C>A,G,T	0.05	intron_variant	PRSS1	2e-22	Tier 4: intronic/intergenic
rs545634	1	15443607	G>A,C	0.05	intron_variant	CTRC	3e-22	Tier 4: intronic/intergenic
rs35031873	7	142758607	A>C,G,T	0.05	intergenic_variant	PRSS1 - PRSS2	6e-22	Tier 4: intronic/intergenic
rs138700403	7	142768604	A>C,G	0.05	intron_variant	PRSS2	2e-21	Tier 4: intronic/intergenic
rs6464530	7	142769995	G>C		intron_variant	PRSS2	6e-21	Tier 4: intronic/intergenic
rs4145394	7	142770138	C>A		intron_variant	PRSS2	9e-21	Tier 4: intronic/intergenic
rs66491909	X	106732269	G>A	0.05	intron_variant	RNF128	6e-20	Tier 4: intronic/intergenic
rs60095957	7	142742709	G>A	0.05	intergenic_variant	TRBV29-1 - PRSS1	8e-20	Tier 4: intronic/intergenic
rs12014762	X	106940440	C>T	0.05	intergenic_variant	MORC4	2e-19	Tier 4: intronic/intergenic
rs73742446	7	142771453	G>C		intron_variant	PRSS2	4e-19	Tier 4: intronic/intergenic
rs144184641	7	142775173	T>C,G	0.05	intergenic_variant	PRSS2 - WBP1LP1	7e-19	Tier 4: intronic/intergenic
rs11762011	7	142775653	G>C		intergenic_variant	PRSS2 - WBP1LP1	2e-18	Tier 4: intronic/intergenic
rs149506335	7	142776454	G>C	0.05	regulatory_region_variant	PRSS2 - WBP1LP1	2e-18	Tier 3: regulatory
rs192514996	7	142778229	T>C,G		intergenic_variant	PRSS2 - WBP1LP1	5e-18	Tier 4: intronic/intergenic
rs73742434	7	142769972	C>A		intron_variant	PRSS2	8e-18	Tier 4: intronic/intergenic
rs4457242	7	142777285	G>A,C	0.05	intergenic_variant	PRSS2 - WBP1LP1	8e-18	Tier 4: intronic/intergenic
rs147767607	7	142769934	T>C	0.05	intron_variant	PRSS2	1e-17	Tier 4: intronic/intergenic
rs1285582	X	107123872	G>A,C	0.05	3_prime_UTR_variant	NUP62CL	2e-17	Tier 2: splice/UTR
rs10243591	7	142725721	C>A,G,T	0.05	intergenic_variant	PGBD4P1 - TRBV29-1	1e-16	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 19 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 3

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
SPINK1	SPINK1	GWAS, Orphanet
TRPV6	TRPV6	GWAS, Orphanet
CTRC	CTRC	GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SPINK1	Orphanet:103918	Tropical pancreatitis
SPINK1	Orphanet:700124	Autosomal recessive hereditary chronic pancreatitis
MED12	Orphanet:1415	Hardikar syndrome
MED12	Orphanet:293707	Blepharophimosis-intellectual disability syndrome, MKB type
MED12	Orphanet:776	Lujan-Fryns syndrome
MED12	Orphanet:777	X-linked non-syndromic intellectual disability
MED12	Orphanet:93932	FG syndrome type 1
TRPV6	Orphanet:417	Neonatal severe primary hyperparathyroidism
TRPV6	Orphanet:676	Autosomal dominant hereditary chronic pancreatitis
SFXN4	Orphanet:391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
NANOS1	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
FREM1	Orphanet:217266	BNAR syndrome
FREM1	Orphanet:2717	Oculotrichoanal syndrome
FREM1	Orphanet:3366	Non-syndromic metopic craniosynostosis
FREM1	Orphanet:93100	Renal agenesis, unilateral
TTC12	Orphanet:244	Primary ciliary dyskinesia
TBC1D8B	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
CTRC	Orphanet:103918	Tropical pancreatitis
CTRC	Orphanet:676	Autosomal dominant hereditary chronic pancreatitis

Cohort genes → proteins

75 cohort genes, 68 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	75

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SPINK1	HGNC:11244	ENSG00000164266	P00995	Serine protease inhibitor Kazal-type 1	gwas
TAX1BP1	HGNC:11575	ENSG00000106052	Q86VP1	Tax1-binding protein 1	gwas
TLE3	HGNC:11839	ENSG00000140332	Q04726	Transducin-like enhancer protein 3	gwas
MED12	HGNC:11957	ENSG00000184634	Q93074	Mediator of RNA polymerase II transcription subunit 12	gwas
TRBC2	HGNC:12157	ENSG00000211772	A0A5B9	T cell receptor beta constant 2	gwas
TRBJ2-1	HGNC:12168	ENSG00000211764	A0A0A0MTA7	T cell receptor beta joining 2-1	gwas
TRBJ2-2	HGNC:12169	ENSG00000211765	A0A0A0MT94	T cell receptor beta joining 2-2	gwas
TRBJ2-2P	HGNC:12170	ENSG00000211766		T cell receptor beta joining 2-2P (non-functional)	gwas
TRBJ2-3	HGNC:12171	ENSG00000211767	A0A0B4J200	T cell receptor beta joining 2-3	gwas
TRBJ2-4	HGNC:12172	ENSG00000211768	A0A0A0MT87	T cell receptor beta joining 2-4	gwas
TRBJ2-5	HGNC:12173	ENSG00000211769	A0A0A0MTA4	T cell receptor beta joining 2-5	gwas
TRBJ2-6	HGNC:12174	ENSG00000211770	A0A0A0MT70	T cell receptor beta joining 2-6	gwas
TRBJ2-7	HGNC:12175	ENSG00000211771	A0A0A0MT78	T cell receptor beta joining 2-7	gwas
TRBV19	HGNC:12194	ENSG00000211746	A0A075B6N1	T cell receptor beta variable 19	gwas
TRBV20-1	HGNC:12196	ENSG00000211747	A0A075B6N2	T cell receptor beta variable 20-1	gwas
TRBV21-1	HGNC:12198	ENSG00000251578		T cell receptor beta variable 21-1 (pseudogene)	gwas
TRBV22-1	HGNC:12200	ENSG00000240578		T cell receptor beta variable 22-1 (pseudogene)	gwas
TRBV23-1	HGNC:12201	ENSG00000211749	A0A0A0MS06	Probable non-functional T cell receptor beta variable 23-1	gwas
TRBV24-1	HGNC:12203	ENSG00000211750	A0A075B6N3	T cell receptor beta variable 24-1	gwas
TRBV25-1	HGNC:12205	ENSG00000282499	A0A075B6N4	T cell receptor beta variable 25-1	gwas
TRBV26	HGNC:12207	ENSG00000249912		T cell receptor beta variable 26 (pseudogene)	gwas
TRBV27	HGNC:12208	ENSG00000211752	A0A0K0K1C4	T cell receptor beta variable 27	gwas
TRBV28	HGNC:12209	ENSG00000211753	A0A5B6	T cell receptor beta variable 28	gwas
TRBV29-1	HGNC:12210	ENSG00000232869	A0A5B7	T cell receptor beta variable 29-1	gwas
TRBV30	HGNC:12214	ENSG00000237254	A0A0K0K1B3	T cell receptor beta variable 30	gwas
TRBV5-5	HGNC:12222	ENSG00000211725	A0A597	T cell receptor beta variable 5-5	gwas
TRBV5-6	HGNC:12223	ENSG00000211728	A0A599	T cell receptor beta variable 5-6	gwas
TRBV5-7	HGNC:12224	ENSG00000211731	A0A0A0MS05	Probable non-functional T cell receptor beta variable 5-7	gwas
TRBV6-7	HGNC:12232	ENSG00000253188	A0A0A0MS04	Probable non-functional T cell receptor beta variable 6-7	gwas
TRBV6-8	HGNC:12233	ENSG00000253534	A0A0A6YYG3	T cell receptor beta variable 6-8	gwas
TRBV6-9	HGNC:12234	ENSG00000282610	A0A0J9YX75	T cell receptor beta variable 6-9	gwas
TRBV7-6	HGNC:12240	ENSG00000211727	A0A1B0GX31	T cell receptor beta variable 7-6	gwas
TRBV7-7	HGNC:12241	ENSG00000253291	A0A0K0K1E9	T cell receptor beta variable 7-7	gwas
TRBV7-8	HGNC:12242	ENSG00000282040	A0A1B0GX51	T cell receptor beta variable 7-8	gwas
TRBVA	HGNC:12247	ENSG00000239992		T cell receptor beta variable A (pseudogene)	gwas
TRBVB	HGNC:12248	ENSG00000241911		T cell receptor beta variable B (pseudogene)	gwas
TRPV6	HGNC:14006	ENSG00000165125	Q9H1D0	Transient receptor potential cation channel subfamily V member 6	gwas
OR9A2	HGNC:15093	ENSG00000179468	Q8NGT5	Olfactory receptor 9A2	gwas
CASP9	HGNC:1511	ENSG00000132906	P55211	Caspase-9	gwas
MTPN	HGNC:15667	ENSG00000105887	P58546	Myotrophin	gwas
SLC13A4	HGNC:15827	ENSG00000164707	Q9UKG4	Solute carrier family 13 member 4	gwas
PPP1R16B	HGNC:15850	ENSG00000101445	Q96T49	Protein phosphatase 1 regulatory inhibitor subunit 16B	gwas
SFXN4	HGNC:16088	ENSG00000183605	Q6P4A7	Sideroflexin-4	gwas
SACK1D	HGNC:16122	ENSG00000101447	Q9H4H8	Protein FAM83D	gwas
SCP2D1-AS1	HGNC:16210	ENSG00000149443	Q9BR46	Putative uncharacterized protein SCP2D1-AS1	gwas
SCP2D1	HGNC:16211	ENSG00000132631	Q9UJQ7	SCP2 sterol-binding domain-containing protein 1	gwas
SCGB3A2	HGNC:18391	ENSG00000164265	Q96PL1	Secretoglobin family 3A member 2	gwas
AGMAT	HGNC:18407	ENSG00000116771	Q9BSE5	Guanidino acid hydrolase, mitochondrial	gwas
CFDP1	HGNC:1873	ENSG00000153774	Q9UEE9	Heterochromatin-stabilizing protein CFDP1	gwas
NPAS3	HGNC:19311	ENSG00000151322	Q8IXF0	Neuronal PAS domain-containing protein 3	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SPINK1	Serine protease inhibitor Kazal-type 1	Serine protease inhibitor which exhibits anti-trypsin activity.
TAX1BP1	Tax1-binding protein 1	Ubiquitin-binding adapter that participates in inflammatory, antiviral and innate immune processes as well as selective autophagy regulation.
TLE3	Transducin-like enhancer protein 3	Transcriptional coregulator that binds to a number of transcription factors.
MED12	Mediator of RNA polymerase II transcription subunit 12	Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes.
TRBC2	T cell receptor beta constant 2	Constant region of T cell receptor (TR) beta chain.
TRBJ2-1	T cell receptor beta joining 2-1	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBJ2-2	T cell receptor beta joining 2-2	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBJ2-3	T cell receptor beta joining 2-3	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBJ2-4	T cell receptor beta joining 2-4	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBJ2-5	T cell receptor beta joining 2-5	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBJ2-6	T cell receptor beta joining 2-6	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBJ2-7	T cell receptor beta joining 2-7	J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV19	T cell receptor beta variable 19	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV20-1	T cell receptor beta variable 20-1	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV23-1	Probable non-functional T cell receptor beta variable 23-1	Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain.
TRBV24-1	T cell receptor beta variable 24-1	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV25-1	T cell receptor beta variable 25-1	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV27	T cell receptor beta variable 27	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV28	T cell receptor beta variable 28	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV29-1	T cell receptor beta variable 29-1	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV30	T cell receptor beta variable 30	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV5-5	T cell receptor beta variable 5-5	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV5-6	T cell receptor beta variable 5-6	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV5-7	Probable non-functional T cell receptor beta variable 5-7	Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain.
TRBV6-7	Probable non-functional T cell receptor beta variable 6-7	Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain.
TRBV6-8	T cell receptor beta variable 6-8	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV6-9	T cell receptor beta variable 6-9	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV7-6	T cell receptor beta variable 7-6	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV7-7	T cell receptor beta variable 7-7	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRBV7-8	T cell receptor beta variable 7-8	V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition.
TRPV6	Transient receptor potential cation channel subfamily V member 6	Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine.
OR9A2	Olfactory receptor 9A2	Odorant receptor.
CASP9	Caspase-9	Involved in the activation cascade of caspases responsible for apoptosis execution.
MTPN	Myotrophin	Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity.
SLC13A4	Solute carrier family 13 member 4	Sodium:sulfate symporter that mediates sulfate reabsorption in the high endothelial venules (HEV).
PPP1R16B	Protein phosphatase 1 regulatory inhibitor subunit 16B	Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function.
SFXN4	Sideroflexin-4	Mitochondrial amino-acid transporter.
SACK1D	Protein FAM83D	Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC.
SCGB3A2	Secretoglobin family 3A member 2	Secreted cytokine-like protein.
AGMAT	Guanidino acid hydrolase, mitochondrial	Hydrolyzes linear guanidino acids to form urea and the corresponding amines.
CFDP1	Heterochromatin-stabilizing protein CFDP1	Required for the structural stability of pericentromeric heterochromatin.
NPAS3	Neuronal PAS domain-containing protein 3	May play a broad role in neurogenesis.
HOOK1	Protein Hook homolog 1	Component of the FTS/Hook/FHIP complex (FHF complex).
CLDN2	Claudin-2	Forms paracellular channels: polymerizes in tight junction strands with cation- and water-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability.
RNF128	E3 ubiquitin-protein ligase RNF128	E3 ubiquitin-protein ligase that catalyzes ‘Lys-27’, ‘Lys-48’- or ‘Lys-63’-linked polyubiquitin chains formation and plays a role in different biological processes such as modulation of immune response, cytoskeletal dynamics or protein hom…
SOFU1	Sperm-egg fusion protein LLCFC1	Sperm protein required for fusion of sperm with the egg membrane during fertilization.
NANOS1	Nanos homolog 1	May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3’-UTR of mRNA targets.
ZFP1	Zinc finger protein 1 homolog	May be involved in transcriptional regulation.
FREM1	FRAS1-related extracellular matrix protein 1	Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.
MORC4	MORC family CW-type zinc finger protein 4	Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) ‘Lys-4’ on histone H3.

Protein-family classification

Druggable: 30 · Difficult: 9 · Unknown: 36 · Druggable fraction: 0.4

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	19	7.4×	5e-11
Protease	5	2.4×	0.244
Ion channel	1	1.5×	0.960
Other/Unknown	36	0.9×	0.960
Scaffold/PPI	3	0.7×	0.960
Transcription factor	6	0.7×	0.960
Enzyme (other)	3	0.5×	0.960
Kinase	1	0.4×	0.960
GPCR	1	0.3×	0.960

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SPINK1	Other/Unknown	no		Prot_inh_Kazal-m, Kazal_dom, Kazal_dom_sf
TAX1BP1	Other/Unknown	no		CALCOCO1-like, SKICH, CALCOCO1/2_Zn_UBZ1
TLE3	Scaffold/PPI	no		WD40_rpt, Groucho/TLE_N, Groucho_enhance
MED12	Other/Unknown	no		Mediator_Med12, Mediator_Med12_catenin-bd, Mediator_Med12_LCEWAV
TRBC2	Antibody/Immunoglobulin	yes		Ig_C1-set, Ig-like_dom, Ig-like_fold
TRBJ2-1	Other/Unknown	no
TRBJ2-2	Other/Unknown	no
TRBJ2-2P	Other/Unknown	no
TRBJ2-3	Other/Unknown	no
TRBJ2-4	Other/Unknown	no
TRBJ2-5	Other/Unknown	no
TRBJ2-6	Other/Unknown	no
TRBJ2-7	Other/Unknown	no
TRBV19	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV20-1	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV21-1	Other/Unknown	no
TRBV22-1	Other/Unknown	no
TRBV23-1	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV24-1	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV25-1	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV26	Other/Unknown	no
TRBV27	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV28	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV29-1	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV30	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV5-5	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV5-6	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV5-7	Antibody/Immunoglobulin	yes		Ig_V-set, Ig-like_fold, Ig-like_dom_sf
TRBV6-7	Antibody/Immunoglobulin	yes		Ig_V-set, Ig-like_fold, Ig-like_dom_sf
TRBV6-8	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV6-9	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV7-6	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV7-7	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBV7-8	Antibody/Immunoglobulin	yes		Ig-like_dom, Ig_V-set, Ig-like_fold
TRBVA	Other/Unknown	no
TRBVB	Other/Unknown	no
TRPV6	Ion channel	yes		Ankyrin_rpt, Ion_trans_dom, TRPV5/TRPV6
OR9A2	GPCR	yes		GPCR_Rhodpsn, Olfact_rcpt, GPCR_Rhodpsn_7TM
CASP9	Enzyme (other)	yes	3.4.22.62	Pept_C14_p20, CARD, Pept_C14_p10
MTPN	Scaffold/PPI	no		Ankyrin_rpt, Ankyrin_rpt-contain_sf
SLC13A4	Other/Unknown	no		SLC13A/DASS
PPP1R16B	Scaffold/PPI	no		Ankyrin_rpt, Pase-1_reg_su_16AB, Ankyrin_rpt-contain_sf
SFXN4	Other/Unknown	no		Mtc
SACK1D	Other/Unknown	no		SACK1, FAM83
SCP2D1-AS1	Other/Unknown	no
SCP2D1	Other/Unknown	no		SCP2_sterol-bd_dom, SCP2_sterol-bd_dom_sf
SCGB3A2	Other/Unknown	no		Secretoglobin_3A
AGMAT	Enzyme (other)	yes	3.5.3.11	Agmatinase-rel, Ureohydrolase, Ureohydrolase_Mn_BS
CFDP1	Other/Unknown	no		BCNT-C, Swc5/CFDP1/2
NPAS3	Transcription factor	no		PAS, bHLH_dom, PAS_fold_3

Expression context

Cohort genes with no expression data: 1.

43 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	3
broad (>20)	71
unknown	1

Top tissues across cohort

Tissue	Cohort genes
granulocyte	26
vermiform appendix	15
lymph node	14
blood	10
male germ line stem cell (sensu Vertebrata) in testis	10
body of pancreas	8
islet of Langerhans	6
spleen	6
pancreas	5
cortical plate	4
right uterine tube	4
left testis	4
ganglionic eminence	3
bone marrow cell	3
primordial germ cell in gonad	3
mucosa of transverse colon	3
ventricular zone	3
corpus callosum	3
right testis	3
epithelial cell of pancreas	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SPINK1	192	broad	marker	body of pancreas, islet of Langerhans, epithelial cell of pancreas
TAX1BP1	301	ubiquitous	marker	secondary oocyte, oocyte, bronchial epithelial cell
TLE3	248	ubiquitous	marker	blood, cortical plate, ganglionic eminence
MED12	281	ubiquitous	marker	right adrenal gland cortex, right adrenal gland, left ovary
TRBC2	133		marker	granulocyte, lymph node, vermiform appendix
TRBJ2-1	116	broad	yes	granulocyte, vermiform appendix, blood
TRBJ2-2	109		marker	granulocyte, vermiform appendix, spleen
TRBJ2-2P	113	broad	yes	granulocyte, vermiform appendix, spleen
TRBJ2-3	118	broad	marker	granulocyte, vermiform appendix, spleen
TRBJ2-4	112	broad	yes	granulocyte, spleen, blood
TRBJ2-5	110	tissue_specific	yes	granulocyte, vermiform appendix, spleen
TRBJ2-6	116	tissue_specific	yes	granulocyte, spleen, vermiform appendix
TRBJ2-7	112	tissue_specific	yes	granulocyte, vermiform appendix, blood
TRBV19	101		yes	lymph node, granulocyte, blood
TRBV20-1	120	tissue_specific	marker	lymph node, granulocyte, vermiform appendix
TRBV21-1	82	broad	yes	granulocyte, lymph node, vermiform appendix
TRBV22-1	20		yes	primordial germ cell in gonad, bone marrow cell, body of pancreas
TRBV23-1	101		yes	granulocyte, lymph node, vermiform appendix
TRBV24-1	109	tissue_specific	yes	lymph node, granulocyte, vermiform appendix
TRBV25-1	106	tissue_specific	marker	lymph node, granulocyte, vermiform appendix
TRBV26	30		yes	male germ line stem cell (sensu Vertebrata) in testis, mucosa of transverse colon, granulocyte
TRBV27	118	tissue_specific	yes	lymph node, granulocyte, blood
TRBV28	111	tissue_specific	yes	granulocyte, lymph node, leukocyte
TRBV29-1	114		yes	male germ line stem cell (sensu Vertebrata) in testis, granulocyte, lymph node
TRBV30	92	tissue_specific	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, lymph node
TRBV5-5	81	tissue_specific	marker	granulocyte, lymph node, vermiform appendix
TRBV5-6	103	tissue_specific	yes	lymph node, granulocyte, blood
TRBV5-7	23		yes	granulocyte, bone marrow cell, blood
TRBV6-7	56		yes	granulocyte, mucosa of transverse colon, body of pancreas
TRBV6-8	44		yes	granulocyte, vermiform appendix, bone marrow cell

Protein interactions among cohort

Intra-cohort edges: 12.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CASP9	4,140
MED12	3,322
TAX1BP1	3,089
AGMAT	2,288
HOOK1	2,273
CTRB1	2,260
CTRB2	2,190
TLE3	2,089
ARL15	2,073
TTC12	1,873

Intra-cohort edges

A	B	Sources
ANKK1	TTC12	string_interaction
CLDN2	CTRC	string_interaction
CLDN2	MORC4	string_interaction
CTRB1	CTRB2	biogrid_interaction, intact
CTRB1	SPINK1	string_interaction
CTRB2	SPINK1	string_interaction
CTRC	SPINK1	string_interaction
MORC4	RIPPLY1	string_interaction
MORC4	SPINK1	string_interaction
PPP1R16B	SACK1D	string_interaction
RIPPLY1	TBC1D8B	string_interaction
RIPPLY1	TLE3	biogrid_interaction

Structural data

PDB: 20 · AlphaFold-only: 48 · No structure: 7

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TRBC2	A0A5B9	63
TRPV6	Q9H1D0	24
CASP9	P55211	11
TAX1BP1	Q86VP1	10
SPINK1	P00995	5
MTPN	P58546	4
RADX	Q6NSI4	4
MED12	Q93074	3
TRBV19	A0A075B6N1	3
TRBV28	A0A5B6	3
DDI2	Q5TDH0	3
FBLIM1	Q8WUP2	3
SACK1D	Q9H4H8	2
TRBJ2-3	A0A0B4J200	1
CLDN2	P57739	1
RNF128	Q8TEB7	1
NANOS1	Q8WY41	1
MORC4	Q8TE76	1
CTRC	Q99895	1
ARL15	Q9NXU5	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CELA2A	P08217	93.66
TRBV29-1	A0A5B7	93.56
TRBV5-5	A0A597	93.18
TRBV20-1	A0A075B6N2	92.93
TRBV5-6	A0A599	92.92
TRBV27	A0A0K0K1C4	92.70
TRBV6-7	A0A0A0MS04	92.52
TRBV6-9	A0A0J9YX75	92.24
AGMAT	Q9BSE5	92.12
CTRB1	P17538	91.90
CTRB2	Q6GPI1	91.79
TRBV30	A0A0K0K1B3	91.46
TRBV5-7	A0A0A0MS05	91.44
TRBJ2-6	A0A0A0MT70	91.29
TRBV7-6	A0A1B0GX31	90.94
TRBV24-1	A0A075B6N3	90.76
TRBV23-1	A0A0A0MS06	90.69
TRBV6-8	A0A0A6YYG3	90.56
TRBV7-7	A0A0K0K1E9	90.41
TTC12	Q9H892	90.27
TRBV7-8	A0A1B0GX51	90.07
TRBV25-1	A0A075B6N4	89.92
TRBJ2-4	A0A0A0MT87	86.36
MBOAT2	Q6ZWT7	86.16
SFXN4	Q6P4A7	85.33
OR9A2	Q8NGT5	85.26
TRBJ2-2	A0A0A0MT94	83.56
HOOK1	Q9UJC3	83.26
TRBJ2-1	A0A0A0MTA7	82.73
SCP2D1	Q9UJQ7	82.32

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 161. Enrichment computed across 137 evidence-associated genes (41 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 41 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Uptake of dietary cobalamins into enterocytes	3	83.6×	8e-04	CTRB1, CTRB2, PRSS1
Developmental Lineage of Pancreatic Acinar Cells	4	29.3×	8e-04	SPINK1, CELA2A, CTRC, PRSS1
Activation of Matrix Metalloproteinases	3	22.6×	0.016	CTRB1, CTRB2, PRSS1
TRP channels	2	19.9×	0.180	TRPV6, TRPV5
Agmatine biosynthesis	1	139.3×	0.228	AGMAT
Dopamine receptors	1	55.7×	0.228	DRD2
Sodium-coupled sulphate, di- and tri-carboxylate transporters	1	55.7×	0.228	SLC13A4
Activation of caspases through apoptosome-mediated cleavage	1	46.4×	0.228	CASP9
SMAC (DIABLO) binds to IAPs	1	39.8×	0.228	CASP9
SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes	1	39.8×	0.228	CASP9
SMAC, XIAP-regulated apoptotic response	1	39.8×	0.228	CASP9
ARMS-mediated activation	1	39.8×	0.228	KIDINS220
Formation of apoptosome	1	34.8×	0.228	CASP9
Prolonged ERK activation events	1	34.8×	0.228	KIDINS220
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)	1	34.8×	0.228	CYP2J2
Caspase activation via extrinsic apoptotic signalling pathway	1	34.8×	0.228	CASP9
RND1 GTPase cycle	2	13.0×	0.228	KIDINS220, PLXNA1
NOTCH1 Intracellular Domain Regulates Transcription	2	11.6×	0.228	TLE3, HES1
Developmental Cell Lineages	2	10.9×	0.228	SPINK1, CELA2A
RHOD GTPase cycle	2	9.9×	0.228	EFHD2, PLXNA1
Cytochrome c-mediated apoptotic response	1	30.9×	0.239	CASP9
G protein gated Potassium channels	1	27.9×	0.239	KCNJ3
Caspase activation via Dependence Receptors in the absence of ligand	1	27.9×	0.239	CASP9
Regulation of the apoptosome activity	1	25.3×	0.239	CASP9
NOTCH2 intracellular domain regulates transcription	1	23.2×	0.239	HES1
Apoptotic factor-mediated response	1	21.4×	0.239	CASP9
AKT phosphorylates targets in the cytosol	1	19.9×	0.239	CASP9
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases	1	19.9×	0.239	BCAR1
RUNX3 regulates NOTCH signaling	1	19.9×	0.239	HES1
p130Cas linkage to MAPK signaling for integrins	1	18.6×	0.239	BCAR1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 90 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
adaptive immune response	26	24.3×	1e-26	TRBC2, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7 (+18 more)
cell surface receptor signaling pathway	18	12.8×	7e-13	TRBV19, TRBV20-1, TRBV23-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1 (+10 more)
glomerulus vasculature development	2	93.6×	0.031	ANGPT2, HES1
adenohypophysis development	2	53.5×	0.054	DRD2, HES1
negative regulation of calcium ion import	2	53.5×	0.054	SPINK1, HES1
digestion	3	20.8×	0.054	CTRB1, CTRB2, PRSS1
fibroblast apoptotic process	2	34.0×	0.105	CASP9, CFDP1
cell morphogenesis involved in neuron differentiation	2	34.0×	0.105	HES1, ID2
positive regulation of macromolecule biosynthetic process	1	187.2×	0.111	MTPN
trochlear nerve development	1	187.2×	0.111	HES1
regeneration	1	187.2×	0.111	NFIB
obsolete putrescine biosynthetic process from arginine, via agmatine	1	187.2×	0.111	AGMAT
negative regulation of circadian sleep/wake cycle, sleep	1	187.2×	0.111	DRD2
positive regulation of mitotic cell cycle, embryonic	1	187.2×	0.111	HES1
negative regulation of positive chemotaxis	1	187.2×	0.111	ANGPT2
lung ciliated cell differentiation	1	187.2×	0.111	NFIB
response to indole-3-methanol	1	187.2×	0.111	CASP9
renal interstitial fibroblast development	1	187.2×	0.111	HES1
protein localization to phagocytic vesicle	1	187.2×	0.111	TAX1BP1
negative regulation of cell fate determination	1	187.2×	0.111	HES1
negative regulation of pancreatic A cell differentiation	1	187.2×	0.111	HES1
negative regulation of epithelial cell proliferation involved in lung morphogenesis	1	187.2×	0.111	NFIB
positive regulation of astrocyte differentiation	2	31.2×	0.111	HES1, ID2
negative regulation of oligodendrocyte differentiation	2	25.0×	0.111	HES1, ID2
axonemal dynein complex assembly	2	23.4×	0.111	TTC12, DNAAF6
white fat cell differentiation	2	18.7×	0.111	TLE3, ID2
proteolysis	8	3.0×	0.111	CELA2A, CTRB1, CTRB2, CTRC, CELA2B, PRSS3P2, TRABD2B, PRSS1
obsolete negative regulation of nitric oxide mediated signal transduction	1	93.6×	0.112	SPINK1
oculomotor nerve development	1	93.6×	0.112	HES1
olfactory nerve formation	1	93.6×	0.112	PLXNA1

Therapeutics

Drug target analysis

Approved (phase 4): 3 · Phase ≥3: 5 · Phased (≥1): 6 · Undrugged: 69

Druggability breadth: 20 of 137 evidence-associated genes (15%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
TRPV6	ECONAZOLE
ANKK1	FEDRATINIB
CTRB1	BORTEZOMIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ANKK1	17	4
CTRB1	7	4
TRPV6	3	4
CTRC	3	3
MED12	1	2
CTRB2	1	3
SPINK1	0	0
TAX1BP1	0	0
TLE3	0	0
TRBC2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
ECONAZOLE	4	TRPV6
FEDRATINIB	4	ANKK1
AXITINIB	4	ANKK1
RUXOLITINIB	4	ANKK1
BOSUTINIB	4	ANKK1
SUNITINIB	4	ANKK1
CRIZOTINIB	4	ANKK1
BORTEZOMIB	4	CTRB1
DOVITINIB	3	ANKK1
LESTAURTINIB	3	ANKK1
MILVEXIAN	3	CTRB1, CTRB2, CTRC
QUERCETIN	3	CTRB1, CTRC
INDIGO	3	CTRB1
MOLIBRESIB	2	MED12
TETRAHYDROCANNABIVARIN	2	TRPV6
DORAMAPIMOD	2	ANKK1
FORETINIB	2	ANKK1
SU-014813	2	ANKK1
DEFOSBARASERTIB	2	ANKK1
R-406	2	ANKK1
TOZASERTIB	2	ANKK1
IODOPHTHALEIN	2	CTRB1, CTRC
INDIRUBIN	2	CTRB1
RAZAXABAN	2	CTRB1
SOR-C13	1	TRPV6
GSK-461364	1	ANKK1
KW-2449	1	ANKK1
AST-487	1	ANKK1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CTRB1	140	Binding:109, ADMET:24, Functional:6, Toxicity:1
CTRC	125	Binding:98, ADMET:24, Functional:2, Toxicity:1
ANKK1	74	Binding:74
CASP9	65	Binding:63, Functional:2
CTRB2	56	Binding:30, ADMET:24, Functional:1, Toxicity:1
TRPV6	32	Binding:32
MED12	6	Binding:6
MTPN	1	Binding:1
SPATS2L	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CASP9	3.4.22.62	caspase-9
AGMAT	3.5.3.11	agmatinase
MBOAT2	2.3.1.23	1-acylglycerophosphocholine O-acyltransferase
CTRC	3.4.21.2	chymotrypsin C

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CTRB1	140
CTRC	125

Pharmacogenomics

Cohort genes with a PharmGKB record: 73; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

28 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
ECONAZOLE	4	TRPV6
FEDRATINIB	4	ANKK1
AXITINIB	4	ANKK1
RUXOLITINIB	4	ANKK1
BOSUTINIB	4	ANKK1
SUNITINIB	4	ANKK1
CRIZOTINIB	4	ANKK1
BORTEZOMIB	4	CTRB1
DOVITINIB	3	ANKK1
LESTAURTINIB	3	ANKK1
MILVEXIAN	3	CTRB1, CTRB2, CTRC
QUERCETIN	3	CTRB1, CTRC
INDIGO	3	CTRB1
MOLIBRESIB	2	MED12
TETRAHYDROCANNABIVARIN	2	TRPV6
DORAMAPIMOD	2	ANKK1
FORETINIB	2	ANKK1
SU-014813	2	ANKK1
DEFOSBARASERTIB	2	ANKK1
R-406	2	ANKK1
TOZASERTIB	2	ANKK1
IODOPHTHALEIN	2	CTRB1, CTRC
INDIRUBIN	2	CTRB1
RAZAXABAN	2	CTRB1
SOR-C13	1	TRPV6
GSK-461364	1	ANKK1
KW-2449	1	ANKK1
AST-487	1	ANKK1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	TRPV6, ANKK1, CTRB1
B	Phased (≥1) drug, not yet approved	3	MED12, CTRB2, CTRC
C	Druggable family + PDB, no drug	5	TRBC2, TRBV19, TRBV28, CASP9, DDI2
D	Druggable family + AlphaFold only, no drug	20	TRBV20-1, TRBV23-1, TRBV24-1, TRBV25-1, TRBV27, TRBV29-1, TRBV30, TRBV5-5, TRBV5-6, TRBV5-7 (+10 more)
E	Difficult family or no structure, no drug	44	SPINK1, TAX1BP1, TLE3, TRBJ2-1, TRBJ2-2, TRBJ2-2P, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6 (+34 more)

Undrugged target profiles

69 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SPINK1	0	CTRC
TTC12	0	ANKK1
TAX1BP1	0	—
TLE3	0	—
TRBC2	0	—
TRBJ2-1	0	—
TRBJ2-2	0	—
TRBJ2-2P	0	—
TRBJ2-3	0	—
TRBJ2-4	0	—
TRBJ2-5	0	—
TRBJ2-6	0	—
TRBJ2-7	0	—
TRBV19	0	—
TRBV20-1	0	—
TRBV21-1	0	—
TRBV22-1	0	—
TRBV23-1	0	—
TRBV24-1	0	—
TRBV25-1	0	—
TRBV26	0	—
TRBV27	0	—
TRBV28	0	—
TRBV29-1	0	—
TRBV30	0	—
TRBV5-5	0	—
TRBV5-6	0	—
TRBV5-7	0	—
TRBV6-7	0	—
TRBV6-8	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02487225	PHASE3	COMPLETED	Pentoxifylline Treatment in Acute Pancreatitis (AP)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PENTOXIFYLLINE	4	1