CCHCR1

Summary

CCHCR1 (coiled-coil alpha-helical rod protein 1, HGNC:13930) is a protein-coding gene on chromosome 6p21.33, encoding Coiled-coil alpha-helical rod protein 1 (Q8TD31). May be a regulator of keratinocyte proliferation or differentiation.

This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis.

Source: NCBI Gene 54535 — RefSeq curated summary.

At a glance

• GWAS associations: 56
• Clinical variants (ClinVar): 155 total
• MANE Select transcript: NM_001105564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13930
Approved symbol	CCHCR1
Name	coiled-coil alpha-helical rod protein 1
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	HCR
Ensembl gene	ENSG00000204536
Ensembl biotype	protein_coding
OMIM	605310
Entrez	54535

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 19 protein_coding, 6 retained_intron, 6 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000376266, ENST00000396263, ENST00000396268, ENST00000426967, ENST00000428174, ENST00000448141, ENST00000448162, ENST00000451521, ENST00000455279, ENST00000464012, ENST00000467553, ENST00000475684, ENST00000480060, ENST00000486060, ENST00000488920, ENST00000502557, ENST00000503420, ENST00000503934, ENST00000505392, ENST00000506831, ENST00000507226, ENST00000507459, ENST00000507751, ENST00000507829, ENST00000507892, ENST00000508683, ENST00000508852, ENST00000509552, ENST00000512418, ENST00000513222, ENST00000652427, ENST00000652535

RefSeq mRNA: 11 — MANE Select: NM_001105564 NM_001105563, NM_001105564, NM_001394641, NM_001394642, NM_001394643, NM_001394644, NM_001394646, NM_001394647, NM_001394648, NM_001394649, NM_019052

CCDS: CCDS43445, CCDS4695, CCDS47397

Canonical transcript exons

ENST00000396268 — 18 exons

Exon	Start	End
ENSE00001672971	31142963	31143134
ENSE00001733246	31142439	31142716
ENSE00001784685	31144687	31144788
ENSE00001795973	31144885	31145073
ENSE00002214555	31157385	31157802
ENSE00003467626	31150959	31151122
ENSE00003468891	31157023	31157089
ENSE00003488970	31145166	31145302
ENSE00003506322	31148405	31148511
ENSE00003523239	31150725	31150860
ENSE00003583229	31150455	31150565
ENSE00003584138	31150066	31150215
ENSE00003618076	31156731	31156944
ENSE00003647930	31154496	31154799
ENSE00003670330	31143262	31143413
ENSE00003673704	31148618	31148728
ENSE00003675184	31145448	31145493
ENSE00003678863	31145696	31145808

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.5969 / max 69.9182, expressed in 1240 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72645	2.5969	1240

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.22	gold quality
right testis	UBERON:0004534	98.21	gold quality
testis	UBERON:0000473	97.34	gold quality
right uterine tube	UBERON:0001302	93.39	gold quality
sural nerve	UBERON:0015488	93.36	gold quality
mucosa of transverse colon	UBERON:0004991	90.90	gold quality
apex of heart	UBERON:0002098	90.24	gold quality
lower esophagus mucosa	UBERON:0035834	89.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.59	gold quality
transverse colon	UBERON:0001157	88.54	gold quality
cerebellar hemisphere	UBERON:0002245	88.50	gold quality
cerebellar cortex	UBERON:0002129	88.44	gold quality
cerebellum	UBERON:0002037	88.40	gold quality
duodenum	UBERON:0002114	88.32	gold quality
endocervix	UBERON:0000458	88.12	gold quality
right lobe of thyroid gland	UBERON:0001119	87.95	gold quality
fallopian tube	UBERON:0003889	87.88	gold quality
prostate gland	UBERON:0002367	87.84	gold quality
left ovary	UBERON:0002119	87.64	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.33	gold quality
ovary	UBERON:0000992	87.28	gold quality
ventricular zone	UBERON:0003053	87.26	gold quality
small intestine	UBERON:0002108	87.17	gold quality
thyroid gland	UBERON:0002046	87.16	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.15	gold quality
gastrocnemius	UBERON:0001388	87.12	gold quality
uterine cervix	UBERON:0000002	87.09	gold quality
right ovary	UBERON:0002118	87.05	gold quality
metanephros cortex	UBERON:0010533	87.04	gold quality
left uterine tube	UBERON:0001303	86.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting CCHCR1, 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-4468	98.01	66.85	1187
HSA-MIR-2278	97.30	66.19	1130

Literature-anchored findings (GeneRIF, showing 15)

• Isolated by a two hybrid assay, StAR binding protein binds StAR protein in cells and enhances the ability of StAR protein to promote syntheses of steroid hormones.(sTAR binding protein) (PMID:12909641)
• These studies show that miR-122, a 22-nucleotide microRNA, is derived from a liver-specific noncoding polyadenylated RNA transcribed from the gene hcr. (PMID:17179747)
• These results suggest a role for CCHCR1 in the pathogenesis of psoriasis via the regulation of skin steroid metabolism. (PMID:17221218)
• Results show that HLA-Cw6 and CCHCR1 risk allele associations with clinical features of psoriasis are predictably highly similar in a Finnish nationwide cohort of 379 psoriasis patients. (PMID:17340018)
• the aberrant function of CCHCR1 may lead to abnormal keratinocyte proliferation which is a key feature of psoriatic epidermis. (PMID:18174193)
• CCHCR1 is up-regulated in skin cancer and associated with EGFR expression (PMID:19551138)
• Psoriasis is associated with genetic polymorphism in the CCHCR1 gene and in a genomic segment flanking the HLA-C region in the North Indian population. (PMID:22182809)
• The centrosomal localization of CCHCR1 provides a connection to the abnormal cell proliferation and offers a link to possible cellular pathways altered in psoriasis. (PMID:23189171)
• CCHCR1 interacts specifically with the E2 protein of human papillomavirus type 16 on a surface overlapping BRD4 binding (PMID:24664238)
• Confocal imaging confirmed the localization of CCHCR1 in P-bodies. (PMID:24858563)
• psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes (PMID:29866042)
• A Genome-Wide Association Study Identifies Two Novel Susceptible Regions for Squamous Cell Carcinoma of the Head and Neck. (PMID:32276964)
• Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss. (PMID:32580135)
• Identification of protein/mRNA network involving the PSORS1 locus gene CCHCR1 and the PSORS4 locus gene HAX1. (PMID:33417922)
• Segregation of nascent GPCRs in the ER-to-Golgi transport by CCHCR1 via direct interaction. (PMID:38230433)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkeyp-20g2.1	ENSDARG00000092464
danio_rerio	si:dkeyp-20g2.1	ENSDARG00000093389
mus_musculus	Cchcr1	ENSMUSG00000040312
rattus_norvegicus	Cchcr1	ENSRNOG00000050233
caenorhabditis_elegans		WBGENE00015188

Paralogs (2): CIP2A (ENSG00000163507), CCDC57 (ENSG00000176155)

Protein

Protein identifiers

Coiled-coil alpha-helical rod protein 1 — Q8TD31 (reviewed: Q8TD31)

Alternative names: Alpha-helical coiled-coil rod protein, Putative gene 8 protein

All UniProt accessions (23): A0A1U9X7G6, A0A494C023, A0A494C0D7, Q8TD31, A2ABH1, A2ABH3, A2ABH4, A2ABH5, B0V092, D6R9W9, D6RA02, D6RAE7, D6RB88, D6RBG1, D6RD84, D6RDI7, D6RE89, E7EPK4, E7EQC5, E7EQE8, E9PGB6, E9PHV1, Q5STF0

UniProt curated annotations — full annotation on UniProt →

Function. May be a regulator of keratinocyte proliferation or differentiation.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.

Polymorphism. HCRWWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw06:02. HCR is unlikely to be directly involved in psoriasis development.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TD31-1	1	yes
Q8TD31-2	2
Q8TD31-3	3

RefSeq proteins (11): NP_001099033, NP_001099034, NP_001381570, NP_001381571, NP_001381572, NP_001381573, NP_001381575, NP_001381576, NP_001381577, NP_001381578, NP_061925 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009800	HCR	Family

Pfam: PF07111

UniProt features (31 total): sequence variant 15, sequence conflict 6, coiled-coil region 3, region of interest 2, compositionally biased region 2, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TD31-F1	79.52	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 129 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, MODULE_45, MODULE_16, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NUCLEAR_TRANSPORT, MODULE_118, WEI_MYCN_TARGETS_WITH_E_BOX, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, BLALOCK_ALZHEIMERS_DISEASE_UP, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, MODULE_88, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, FISCHER_DREAM_TARGETS, GOBP_NUCLEAR_EXPORT, MODULE_48

GO Biological Process (2): protein export from nucleus (GO:0006611), cell differentiation (GO:0030154)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), centriole (GO:0005814), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular protein transport	1
nuclear export	1
cellular developmental process	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
microtubule organizing center	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCHCR1	CDSN	Q15517	919
CCHCR1	HLA-C	P04222	852
CCHCR1	TCF19	Q9Y242	785
CCHCR1	KRT16	P08779	683
CCHCR1	KRT17	Q04695	679
CCHCR1	KRT6A	P02538	648
CCHCR1	PSORS1C1	Q9UIG5	645
CCHCR1	PGA4	P00790	624
CCHCR1	PSORS1C2	Q9UIG4	609
CCHCR1	KRT14	P02533	580
CCHCR1	STAR	P49675	567
CCHCR1	FAM187B	Q17R55	560
CCHCR1	OR7G3	Q8NG95	535
CCHCR1	MUC22	E2RYF6	534
CCHCR1	EDC4	Q6P2E9	511

IntAct

148 interactions, top by confidence:

A	B	Type	Score
CETN2	SFI1	psi-mi:“MI:0914”(association)	0.740
NUP62	CCHCR1	psi-mi:“MI:0915”(physical association)	0.660
WASHC3	CCHCR1	psi-mi:“MI:0915”(physical association)	0.660
COG7	ILVBL	psi-mi:“MI:0914”(association)	0.640
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
CCHCR1	TXLNB	psi-mi:“MI:0915”(physical association)	0.550
CCHCR1	RBM17	psi-mi:“MI:0915”(physical association)	0.550
KRT40	CCHCR1	psi-mi:“MI:0915”(physical association)	0.550
HSBP1	CCHCR1	psi-mi:“MI:0915”(physical association)	0.550
TXLNB	CCHCR1	psi-mi:“MI:0915”(physical association)	0.550
RBM17	CCHCR1	psi-mi:“MI:0915”(physical association)	0.550
CCHCR1	rep	psi-mi:“MI:0915”(physical association)	0.550
CCHCR1	HSBP1	psi-mi:“MI:0914”(association)	0.550
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
LTBR	ZNF724	psi-mi:“MI:0914”(association)	0.530
WASHC3	WASH3P	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
COG6	EXOC5	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
NEFM	VWA8	psi-mi:“MI:0914”(association)	0.530
	CCHCR1	psi-mi:“MI:0915”(physical association)	0.490
IQCC	CCHCR1	psi-mi:“MI:0915”(physical association)	0.400
CCHCR1	IQCC	psi-mi:“MI:0915”(physical association)	0.400
NS	CCHCR1	psi-mi:“MI:0915”(physical association)	0.370
CCHCR1	NS2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (337): CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid), CCHCR1 (Two-hybrid)

ESM2 similar proteins: A0A8I3QA39, A0PJT0, A2A6T1, A2A9T0, A2AHG0, A4FUG8, A4IFI1, A5PKL7, A7MCY6, D3Z5T1, E1U8D0, G9G127, O60299, O94964, O95153, P97817, Q08379, Q3LUD4, Q569K6, Q5RCR6, Q5SPX1, Q5VU43, Q61043, Q62036, Q62835, Q62839, Q6DG50, Q6NZT2, Q7TNF8, Q80YF0, Q80YT7, Q86X02, Q8C2K1, Q8HZ57, Q8HZ58, Q8HZ59, Q8HZ60, Q8K1Q4, Q8K2I2, Q8N4C6

Diamond homologs: Q8HZ57, Q8HZ58, Q8HZ59, Q8HZ60, Q8K2I2, Q8TD31, Q9TSV3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 146 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
Loss of Nlp from mitotic centrosomes	8	15.5×	4e-06
Loss of proteins required for interphase microtubule organization from the centrosome	8	15.5×	4e-06
Recruitment of mitotic centrosome proteins and complexes	9	14.9×	3e-06
AURKA Activation by TPX2	8	14.9×	5e-06
Retrograde transport at the Trans-Golgi-Network	5	13.4×	2e-03
Recruitment of NuMA to mitotic centrosomes	9	12.8×	4e-06
Regulation of PLK1 Activity at G2/M Transition	8	12.4×	2e-05
Anchoring of the basal body to the plasma membrane	8	11.0×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	31.3×	1e-04
Golgi to plasma membrane transport	5	24.0×	3e-04
centrosome cycle	6	17.3×	2e-04
endocytic recycling	7	16.0×	9e-05
morphogenesis of an epithelium	5	14.7×	2e-03
mitotic spindle organization	5	11.6×	3e-03
intermediate filament organization	5	10.3×	5e-03
exocytosis	7	9.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	101
Likely benign	9
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2682 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31142975:C:CA	donor_gain	1.0000
6:31143277:AT:A	donor_gain	1.0000
6:31143277:ATC:A	donor_gain	1.0000
6:31143279:C:A	donor_gain	1.0000
6:31143290:T:TA	donor_gain	1.0000
6:31143320:T:TA	donor_gain	1.0000
6:31143323:T:TA	donor_gain	1.0000
6:31143327:T:TA	donor_gain	1.0000
6:31143411:CCA:C	acceptor_gain	1.0000
6:31143412:CAC:C	acceptor_gain	1.0000
6:31143414:C:CC	acceptor_gain	1.0000
6:31144645:T:TA	donor_gain	1.0000
6:31144686:CCGG:C	donor_gain	1.0000
6:31144702:C:CA	donor_gain	1.0000
6:31144784:CAGGG:C	acceptor_gain	1.0000
6:31144785:AGGG:A	acceptor_gain	1.0000
6:31144786:GGG:G	acceptor_gain	1.0000
6:31144787:GG:G	acceptor_gain	1.0000
6:31144788:GCTGG:G	acceptor_loss	1.0000
6:31144789:C:CC	acceptor_gain	1.0000
6:31144794:G:C	acceptor_gain	1.0000
6:31144794:G:GC	acceptor_gain	1.0000
6:31144869:ATTTC:A	donor_gain	1.0000
6:31144872:T:TA	donor_gain	1.0000
6:31144873:C:A	donor_gain	1.0000
6:31144899:T:A	donor_gain	1.0000
6:31145069:CTCCC:C	acceptor_gain	1.0000
6:31145070:TCCC:T	acceptor_gain	1.0000
6:31145071:CCC:C	acceptor_gain	1.0000
6:31145071:CCCC:C	acceptor_gain	1.0000

AlphaMissense

5582 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31150152:A:G	W337R	0.992
6:31150152:A:T	W337R	0.992
6:31144914:A:G	L590P	0.989
6:31150813:A:G	L249P	0.985
6:31144711:C:G	A626P	0.983
6:31150500:G:C	S300R	0.983
6:31150500:G:T	S300R	0.983
6:31150502:T:G	S300R	0.983
6:31144926:A:G	L586P	0.981
6:31150118:A:G	L348P	0.981
6:31150150:C:A	W337C	0.978
6:31150150:C:G	W337C	0.978
6:31150148:C:G	R338P	0.976
6:31145240:C:G	R512P	0.975
6:31144690:C:G	A633P	0.974
6:31144936:C:G	A583P	0.971
6:31150130:A:G	L344P	0.968
6:31150135:A:C	F342L	0.968
6:31150135:A:T	F342L	0.968
6:31150137:A:G	F342L	0.968
6:31144719:A:G	L623P	0.964
6:31150498:A:G	L301P	0.964
6:31144752:A:G	L612P	0.960
6:31145019:A:G	L555P	0.958
6:31150151:C:G	W337S	0.958
6:31144923:C:G	R587P	0.956
6:31145219:A:G	L519P	0.956
6:31145722:G:T	A467D	0.953
6:31144740:A:G	L616P	0.952
6:31150510:C:G	R297P	0.951

dbSNP variants (sampled 300 via entrez): RS1000000566 (6:31152593 C>G), RS1000226564 (6:31158753 G>C), RS1000457224 (6:31145782 A>G,T), RS1000507363 (6:31158499 C>G,T), RS1000654068 (6:31158477 T>A,C), RS1000863507 (6:31144179 G>A), RS1000918593 (6:31150726 T>C,G), RS1001354532 (6:31151536 C>A,T), RS1001481045 (6:31157529 G>A), RS1001559201 (6:31153733 C>G), RS1001787820 (6:31160126 A>G), RS1002698873 (6:31143689 G>A), RS1002846842 (6:31143018 C>T), RS1003093123 (6:31156436 T>A), RS1003223403 (6:31150372 C>T)

Disease associations

OMIM: gene MIM:605310 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

56 associations (top):

Study	Trait	p-value
GCST001137_9	White blood cell count	4.000000e-13
GCST001148_8	Prostate cancer	3.000000e-08
GCST001186_3	Nevirapine-induced rash	1.000000e-08
GCST001239_1	Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)	2.000000e-08
GCST001737_11	Chronic obstructive pulmonary disease-related biomarkers	6.000000e-09
GCST001779_4	Hematology traits	5.000000e-07
GCST002140_3	Multiple myeloma	1.000000e-10
GCST003542_141	Night sleep phenotypes	5.000000e-06
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_103	Autism spectrum disorder or schizophrenia	2.000000e-08
GCST004521_107	Autism spectrum disorder or schizophrenia	2.000000e-08
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_124	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_16	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_167	Autism spectrum disorder or schizophrenia	4.000000e-16
GCST004521_19	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_229	Autism spectrum disorder or schizophrenia	4.000000e-11
GCST004521_257	Autism spectrum disorder or schizophrenia	6.000000e-10
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_27	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_282	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0005081	surfactant protein D measurement
EFO:0009597	feeling nervous measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0008039	BMI-adjusted hip circumference
EFO:0004509	hemoglobin measurement
EFO:0007989	monocyte percentage of leukocytes
EFO:0007986	reticulocyte count
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

3 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1265112	Toxicity	3	nevirapine	HIV infectious disease
rs130072	Toxicity	3	nevirapine	HIV infectious disease
rs746647	Toxicity	3	nevirapine	HIV infectious disease

PharmGKB variants

5 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs130072	CCHCR1	3	3.25	1	nevirapine
rs746647	CCHCR1, PSORS1C2	3	3.25	1	nevirapine
rs1265112	CCHCR1	3	3.25	1	nevirapine
rs11540822	CCHCR1		0.00	0
rs9263745	CCHCR1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
bisphenol A	decreases methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
sodium arsenite	affects expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Ethanol	decreases expression	1
Arsenic	affects methylation	1
Cisplatin	increases expression	1
Demecolcine	decreases expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methamphetamine	affects response to substance	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Selenium	increases expression	1
Vincristine	decreases expression	1
Vitamin E	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9B8	Ubigene HEK293 CCHCR1 KO	Transformed cell line	Female
CVCL_E0WW	Ubigene KYSE-30 CCHCR1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery