ASB5

Summary

ASB5 (ankyrin repeat and SOCS box containing 5, HGNC:17180) is a protein-coding gene on chromosome 4q34.2, encoding Ankyrin repeat and SOCS box protein 5 (Q8WWX0). May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known.

Source: NCBI Gene 140458 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 62 total
• GTEx eGene: eQTL in 24 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.32 (unconstrained)
• MANE Select transcript: NM_080874
• Notable: 62 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17180
Approved symbol	ASB5
Name	ankyrin repeat and SOCS box containing 5
Location	4q34.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000164122
Ensembl biotype	protein_coding
OMIM	615050
Entrez	140458

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000296525

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 1, TSL 4: 1, TSL 5: 1

ENST00000296525, ENST00000505299, ENST00000510578, ENST00000511879, ENST00000512254, ENST00000672074, ENST00000855722, ENST00000855723, ENST00000855724, ENST00000945694, ENST00000945695, ENST00000945696, ENST00001116135, ENST00001140398

RefSeq mRNA: 2 — MANE Select: NM_080874 NM_001410863, NM_080874

CCDS: CCDS3827, CCDS93672

Canonical transcript exons

ENST00000296525 — 7 exons

Exon	Start	End
ENSE00001081665	176221450	176221600
ENSE00001081666	176221155	176221289
ENSE00001081670	176268913	176269222
ENSE00001254223	176216818	176217009
ENSE00001254259	176213673	176215727
ENSE00003502184	176222313	176222420
ENSE00003603238	176225262	176225341

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 99.54.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.8289 / max 1128.4699, expressed in 162 samples.

Highest expression (Bgee): skeletal muscle tissue of rectus abdominis, deltoid, quadriceps femoris, tibialis anterior, vastus lateralis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASB5 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 24 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 26 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Spinal cord cervical c-1	eqtl	1.5e-33	+1.02	4:176234637:C:A
Esophagus Muscularis	eqtl	3.1e-26	+0.40	4:176265731:T:C
Heart Atrial Appendage	eqtl	3.9e-24	+0.49	4:176231013:C:A
Heart Left Ventricle	eqtl	4.2e-23	+0.43	4:176232708:T:C
Brain Putamen basal ganglia	eqtl	1.4e-22	+0.82	4:176230252:C:A
Pituitary	eqtl	8.5e-22	+0.63	4:176223624:T:A
Brain Nucleus accumbens basal ganglia	eqtl	1.7e-19	+0.69	4:176231716:C:T
Brain Cerebellum	eqtl	2.2e-18	+0.79	4:176230252:C:A
Brain Substantia nigra	eqtl	3.5e-17	+0.75	4:176230252:C:A
Brain Caudate basal ganglia	eqtl	5.9e-16	+0.63	4:176229774:A:G
Brain Hypothalamus	eqtl	7.6e-14	+0.63	4:176229774:A:G
Brain Cerebellar Hemisphere	eqtl	7.4e-13	+0.62	4:176230252:C:A
Muscle Skeletal	sqtl	1.2e-12	+0.30	4:176224561:T:C
Brain Cortex	eqtl	2.3e-10	+0.61	4:176234637:C:A
Brain Hippocampus	eqtl	4.3e-09	+0.58	4:176229774:A:G
Esophagus Gastroesophageal Junction	eqtl	8.9e-09	+0.26	4:176266957:A:G
Testis	sqtl	2.9e-08	-1.05	4:176305285:C:A
Brain Frontal Cortex BA9	eqtl	2.2e-07	+0.48	4:176229774:A:G
Brain Anterior cingulate cortex BA24	eqtl	5.3e-07	+0.57	4:176231716:C:T
Cells Cultured fibroblasts	eqtl	6.1e-07	-0.23	4:176269644:T:TA

FANTOM5 promoters

7 alternative TSS:

Promoter ID	TPM avg	Samples expressed
55032	5.9475	148
55030	0.4764	98
55031	0.3030	89
55029	0.0579	28
55033	0.0196	10
55034	0.0176	5
55028	0.0069	3

Top tissues by expression

showing 100 of 246 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.54	gold quality
deltoid	UBERON:0001476	99.33	gold quality
quadriceps femoris	UBERON:0001377	99.31	gold quality
tibialis anterior	UBERON:0001385	99.31	gold quality
vastus lateralis	UBERON:0001379	99.29	gold quality
biceps brachii	UBERON:0001507	99.20	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.08	gold quality
skeletal muscle tissue	UBERON:0001134	98.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.87	gold quality
body of tongue	UBERON:0011876	97.56	gold quality
gastrocnemius	UBERON:0001388	97.15	gold quality
skeletal muscle organ	UBERON:0014892	95.94	gold quality
muscle of leg	UBERON:0001383	95.10	gold quality
muscle tissue	UBERON:0002385	90.74	gold quality
tongue	UBERON:0001723	90.65	gold quality
parotid gland	UBERON:0001831	89.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.32	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	81.13	gold quality
lower esophagus	UBERON:0013473	80.99	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	80.92	gold quality
superior surface of tongue	UBERON:0007371	79.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.85	gold quality
mucosa of stomach	UBERON:0001199	78.82	gold quality
urethra	UBERON:0000057	74.06	gold quality
pharyngeal mucosa	UBERON:0000355	73.81	gold quality
urinary bladder	UBERON:0001255	72.80	gold quality
prostate gland	UBERON:0002367	71.31	gold quality
left testis	UBERON:0004533	69.26	gold quality
right testis	UBERON:0004534	68.26	gold quality
fundus of stomach	UBERON:0001160	67.58	gold quality
testis	UBERON:0000473	66.62	gold quality
heart left ventricle	UBERON:0002084	66.47	gold quality
esophagus	UBERON:0001043	66.23	gold quality
cardiac ventricle	UBERON:0002082	66.07	gold quality
saliva-secreting gland	UBERON:0001044	65.96	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	64.50	gold quality
right atrium auricular region	UBERON:0006631	63.82	gold quality
cardiac atrium	UBERON:0002081	62.94	gold quality
heart	UBERON:0000948	62.62	gold quality
spinal cord	UBERON:0002240	62.62	gold quality
colon	UBERON:0001155	62.23	gold quality
gall bladder	UBERON:0002110	61.75	gold quality
large intestine	UBERON:0000059	61.64	gold quality
rectum	UBERON:0001052	61.11	gold quality
minor salivary gland	UBERON:0001830	60.53	gold quality
colonic epithelium	UBERON:0000397	59.85	silver quality
mouth mucosa	UBERON:0003729	59.10	gold quality
lower esophagus mucosa	UBERON:0035834	58.78	gold quality
endothelial cell	CL:0000115	58.36	gold quality
trabecular bone tissue	UBERON:0002483	58.08	gold quality
intestine	UBERON:0000160	57.92	gold quality
synovial joint	UBERON:0002217	57.89	gold quality
substantia nigra	UBERON:0002038	57.76	gold quality
jejunum	UBERON:0002115	57.55	gold quality
prefrontal cortex	UBERON:0000451	57.23	gold quality
vermiform appendix	UBERON:0001154	57.10	gold quality
substantia nigra pars reticulata	UBERON:0001966	56.59	gold quality
oral cavity	UBERON:0000167	55.87	gold quality
midbrain	UBERON:0001891	55.70	gold quality
transverse colon	UBERON:0001157	55.49	gold quality
anterior cingulate cortex	UBERON:0009835	55.30	gold quality
smooth muscle tissue	UBERON:0001135	54.67	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
apex of heart	UBERON:0002098	54.32	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
cardia of stomach	UBERON:0001162	53.78	gold quality
amygdala	UBERON:0001876	53.56	gold quality
ectocervix	UBERON:0012249	53.53	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
caecum	UBERON:0001153	53.36	gold quality
epithelial cell of pancreas	CL:0000083	53.21	gold quality
islet of Langerhans	UBERON:0000006	53.09	gold quality
stomach	UBERON:0000945	52.95	gold quality
esophagus mucosa	UBERON:0002469	52.77	gold quality
Brodmann (1909) area 9	UBERON:0013540	52.69	gold quality
endocervix	UBERON:0000458	52.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	52.39	gold quality
lower lobe of lung	UBERON:0008949	52.34	silver quality
neocortex	UBERON:0001950	51.58	gold quality
putamen	UBERON:0001874	51.51	gold quality
adult mammalian kidney	UBERON:0000082	51.46	gold quality
frontal cortex	UBERON:0001870	51.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	51.20	gold quality
body of stomach	UBERON:0001161	51.15	gold quality
caudate nucleus	UBERON:0001873	51.10	gold quality
tonsil	UBERON:0002372	50.67	gold quality
anatomical system	UBERON:0000467	50.48	gold quality
multicellular organism	UBERON:0000468	50.36	gold quality
material anatomical entity	UBERON:0000465	50.35	gold quality
uterine cervix	UBERON:0000002	50.09	gold quality
layer of synovial tissue	UBERON:0007616	50.03	silver quality
cerebral cortex	UBERON:0000956	49.61	gold quality
nucleus accumbens	UBERON:0001882	49.27	gold quality
forebrain	UBERON:0001890	49.06	gold quality
right frontal lobe	UBERON:0002810	49.00	gold quality
brain	UBERON:0000955	48.97	gold quality
stromal cell of endometrium	CL:0002255	48.94	gold quality
cerebellar vermis	UBERON:0004720	48.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.99

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 61 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Skeletal muscle	tissue	203.4
Tongue	tissue	62.7
Salivary gland	tissue	22.5
Urinary bladder	tissue	14.1
Corpus callosum	tissue	13.8
Spinal cord	tissue	13.1
Prostate	tissue	12.0
Midbrain	tissue	11.9
Hypothalamus	tissue	11.9
Superior colliculi	tissue	11.6
Substantia nigra	tissue	11.6
Septum	tissue	11.5
Hippocampal formation	tissue	11.4
Cerebral cortex	tissue	11.1
Motor cortex	tissue	11.1
Thalamus	tissue	11.0
Putamen	tissue	10.8
Retrosplenial and cingulate cortex	tissue	10.8
Temporal cortex	tissue	10.7
Entorhinal cortex	tissue	10.6
Retrosplenial cortex	tissue	10.6
Amygdala	tissue	10.5
Ventral forebrain	tissue	10.5
Periaqueductal gray	tissue	10.5
Pons	tissue	10.4
Medulla oblongata	tissue	10.4
Prefrontal cortex	tissue	10.2
Insular cortex	tissue	10.2
Basal ganglia	tissue	10.1
Esophagus	tissue	9.9
Somatosensory cortex	tissue	9.9
Occipital cortex	tissue	9.7
Cerebellum	tissue	9.6
Olfactory bulb	tissue	9.5
Testis	tissue	4.3
Heart muscle	tissue	3.6
Rectum	tissue	3.1
Smooth muscle	tissue	2.3
Frontal cortex	tissue	1.5
Colon	tissue	1.3
Gallbladder	tissue	1.1
Caudate putamen	tissue	0.9
Vagina	tissue	0.8
Appendix	tissue	0.8
Kidney	tissue	0.7
Locus coeruleus	tissue	0.7
Endometrium 1	tissue	0.6
Cervix	tissue	0.4
Pituitary gland	tissue	0.4
Seminal vesicle	tissue	0.3
Nucleus accumbens	tissue	0.3
Duodenum	tissue	0.3
Hippocampus	tissue	0.3
Postcentral gyrus	tissue	0.3
Stomach 1	tissue	0.2
Lung	tissue	0.2
Small intestine	tissue	0.2
Parathyroid gland	tissue	0.1
Epididymis	tissue	0.1
Choroid plexus	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — White matter (13.8), Dorsal spinal cord (13.1), Ventral spinal cord (11.7), Subiculum (11.4), Dorsal hippocampus (11.3).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 2.46e-14, LOEUF 1.32, missense Z 0.28 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000296525 — one region, missense o/e 1.01.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Asb5	ENSMUSG00000031519
rattus_norvegicus	Asb5	ENSRNOG00000042630

Paralogs (2): ASB9 (ENSG00000102048), ASB11 (ENSG00000165192)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1923544) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 5 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal vertebrae morphology	1
abnormal thymus morphology	1
enlarged thymus	1
increased circulating potassium level	1
decreased circulating sodium level	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
Latrodectus tredecimguttatus	Q02989	100.0%	Diamond
Macaca fascicularis	Q9BGT9	99.7%	Diamond
Pongo abelii	Q5RCK5	99.4%	Diamond
Oryctolagus cuniculus	Q862Z2	94.8%	Diamond
Bos taurus	Q17QS6	92.1%	Diamond
Danio rerio	Q70X92	57.8%	Diamond
Fowlpox virus strain NVSL	Q9J4Z4	52.8%	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
SPCS3-AS1	ncRNA	116435303
SPATA4	protein-coding	132851
SPCS3	protein-coding	60559
GPM6A	protein-coding	2823
WDR17	protein-coding	116966
HAFML	ncRNA	105377555
VEGFC	protein-coding	7424

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 5 — Q8WWX0 (reviewed: Q8WWX0)

All UniProt accessions (4): Q8WWX0, A0A5F9ZHS2, D6R9Q2, Q5HYF3

UniProt curated annotations — full annotation on UniProt →

Function. May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the initiation of arteriogenesis.

Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WWX0-1	1	yes
Q8WWX0-2	2

RefSeq proteins (2): NP_001397792, NP_543150* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037328	ASB5_SOCS	Domain
IPR051573	Ankyrin-SOCS_box_domain	Family

Pfam: PF07525, PF12796

UniProt features (9 total): repeat 6, chain 1, domain 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWX0-F1	85.93	0.60

Human Protein Atlas

Protein class: Predicted membrane proteins, Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): plasma membrane

Antibody reliability (HPA): IF approved

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

7 pathways:

ID	Pathway	Evidence
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation	curated
R-HSA-8951664	Neddylation	curated
R-HSA-1280218	Adaptive Immune System	—
R-HSA-983169	Class I MHC mediated antigen processing & presentation	—
R-HSA-168256	Immune System	—
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—

MSigDB gene sets: 101 (showing top): AP1_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, chr4q34, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, AP4_Q6, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, MODULE_285, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, TGANTCA_AP1_C

GO Biological Process (3): protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556), positive regulation of protein catabolic process (GO:0045732)

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

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

5 top-level categories:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

10 GO namespaces:

Category	Terms
protein modification by small protein conjugation	1
intracellular anatomical structure	1
signal transduction	1
positive regulation of catabolic process	1
protein catabolic process	1
regulation of protein catabolic process	1
positive regulation of protein metabolic process	1
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 784 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB5	SPCS3	P12280	594
ASB5	WDR17	Q8IZU2	492
ASB5	CARD19	Q96LW7	475
ASB5	NEURL2	Q9BR09	473
ASB5	ABTB1	Q969K4	453
ASB5	PNMA1	Q8ND90	449
ASB5	ASB6	Q9NWX5	446
ASB5	SPATA4	Q8NEY3	415
ASB5	KRTAP4-16	G5E9R7	400
ASB5	RASSF9	O75901	393
ASB5	LRRC30	A6NM36	371
ASB5	FBXO7	Q9Y3I1	370
ASB5	CTXND1	A0A1B0GTU2	362
ASB5	IRAG1	Q9Y6F6	362
ASB5	PNMA2	Q9UL42	357

IntAct

BioGRID (23 interactions; top human partners by supporting records): AKR1B1 (Affinity Capture-MS), ASB1 (Affinity Capture-MS), ATP2A2 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), ATP5C1 (Affinity Capture-MS), BSG (Affinity Capture-MS), CRYAB (Affinity Capture-MS), CUL5 (Affinity Capture-MS), DNAJA1 (Affinity Capture-MS), ENO2 (Affinity Capture-MS), GCN1L1 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), LRPPRC (Affinity Capture-MS), PPP2CB (Affinity Capture-MS), PRKDC (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for ASB5: 62 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	1
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 33 predictions of 429):

Position(s)	Effect	Δscore	Sites
4:176221448–176221449	donor_loss	1.0000	5
4:176225261	donor_loss	1.0000	2
4:176225342–176225343	acceptor_loss	1.0000	6
4:176268911–176268912	donor_loss	1.0000	5
4:176216816–176216817	donor_loss	0.9900	4
4:176217010–176217011	acceptor_loss	0.9900	6
4:176217014–176217016	acceptor_gain	0.9900	2
4:176217023	acceptor_gain	0.9900
4:176217026	acceptor_gain	0.9900
4:176221448	donor_loss	0.9900

AlphaMissense

763 missense substitutions predicted likely pathogenic (of 2,123 scored), across 208 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
H108	8	0.953	0.986
H75	8	0.942	0.973
F25	8	0.939	0.988
D102	8	0.914	0.956
N47	8	0.869	0.986
F27	8	0.867	0.977
H238	8	0.860	0.950
D70	8	0.843	0.938
H173	8	0.843	0.962
F30	8	0.834	0.910
E50	7	0.966	0.988
F41	7	0.914	0.987
F141	7	0.906	0.984
W68	7	0.905	0.973
R53	7	0.903	0.977
F58	7	0.879	0.986
C118	7	0.871	0.993
H40	7	0.862	0.959
C144	7	0.862	0.996
F325	7	0.857	0.965

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Kidney Chromophobe)

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

1 prognostic cancer types:

Cancer	Prognostic	p-value
Head and Neck Squamous Cell Carcinoma (TCGA)	unfavorable	0.000116

Disease associations

OMIM: gene MIM:615050 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST009391_413	Metabolite levels	5e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0010437	triacylglycerol 58:10 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
2-methyl-4-isothiazolin-3-one	increases expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic Trioxide	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
Smoke	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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