WDR93

Summary

WDR93 (WD repeat domain 93, HGNC:26924) is a protein-coding gene on chromosome 15q26.1, encoding WD repeat-containing protein 93 (Q6P2C0).

Predicted to be involved in electron transport chain. Predicted to be part of respiratory chain complex I.

Source: NCBI Gene 56964 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
• Clinical variants (ClinVar): 63 total — 1 likely-pathogenic
• MANE Select transcript: NM_020212

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26924
Approved symbol	WDR93
Name	WD repeat domain 93
Location	15q26.1
Locus type	gene with protein product
Status	Approved
Aliases	FAP297, C1d-87, CFAP297
Ensembl gene	ENSG00000140527
Ensembl biotype	protein_coding
OMIM	619891
Entrez	56964

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000268130, ENST00000444934, ENST00000557825, ENST00000558000, ENST00000560294, ENST00000878301, ENST00000969729

RefSeq mRNA: 3 — MANE Select: NM_020212 NM_001284395, NM_001284396, NM_020212

CCDS: CCDS32326, CCDS66862, CCDS73779

Canonical transcript exons

ENST00000268130 — 17 exons

Exon	Start	End
ENSE00001268927	89743292	89743638
ENSE00001268994	89705554	89705618
ENSE00001269003	89702950	89703142
ENSE00001269030	89701707	89702049
ENSE00001294816	89716911	89716949
ENSE00001353170	89690811	89690857
ENSE00001504858	89714980	89715095
ENSE00001504859	89712026	89712104
ENSE00003557680	89722055	89722139
ENSE00003711597	89738041	89738236
ENSE00003715827	89731443	89731562
ENSE00003716988	89733006	89733219
ENSE00003717461	89727157	89727328
ENSE00003742418	89729683	89729769
ENSE00003750308	89737573	89737729
ENSE00003751914	89735490	89735553
ENSE00003754784	89729023	89729093

Expression profiles

Bgee: expression breadth ubiquitous, 148 present calls, max score 96.24.

FANTOM5 (CAGE): breadth broad, TPM avg 0.3735 / max 36.0868, expressed in 183 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148368	0.3735	183

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	96.24	gold quality
right uterine tube	UBERON:0001302	85.82	gold quality
tibialis anterior	UBERON:0001385	85.04	silver quality
bronchial epithelial cell	CL:0002328	84.54	gold quality
bronchus	UBERON:0002185	82.57	gold quality
pancreatic ductal cell	CL:0002079	82.00	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.12	gold quality
left testis	UBERON:0004533	78.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.90	gold quality
right testis	UBERON:0004534	78.62	gold quality
ileal mucosa	UBERON:0000331	77.60	gold quality
testis	UBERON:0000473	76.92	gold quality
fallopian tube	UBERON:0003889	75.97	gold quality
epithelial cell of pancreas	CL:0000083	67.05	gold quality
kidney epithelium	UBERON:0004819	66.26	gold quality
deltoid	UBERON:0001476	65.49	silver quality
epithelium of nasopharynx	UBERON:0001951	65.44	gold quality
sperm	CL:0000019	64.93	gold quality
cardiac muscle of right atrium	UBERON:0003379	64.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	64.25	gold quality
left ventricle myocardium	UBERON:0006566	63.98	gold quality
nasal cavity epithelium	UBERON:0005384	62.80	gold quality
buccal mucosa cell	CL:0002336	62.20	gold quality
left lobe of thyroid gland	UBERON:0001120	62.16	gold quality
nasal cavity mucosa	UBERON:0001826	62.16	gold quality
thyroid gland	UBERON:0002046	62.01	gold quality
myocardium	UBERON:0002349	61.75	gold quality
cerebellar hemisphere	UBERON:0002245	61.71	gold quality
right lobe of thyroid gland	UBERON:0001119	61.65	gold quality
cerebellar cortex	UBERON:0002129	61.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting WDR93, 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-1208	99.70	68.28	1533
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-493-3P	97.50	66.44	731

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr93	ENSDARG00000087191
mus_musculus	Wdr93	ENSMUSG00000039099
rattus_norvegicus	Wdr93	ENSRNOG00000026514

Paralogs (1): NDUFS4 (ENSG00000164258)

Protein

Protein identifiers

WD repeat-containing protein 93 — Q6P2C0 (reviewed: Q6P2C0)

All UniProt accessions (2): B4E3E2, Q6P2C0

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P2C0-1	1	yes
Q6P2C0-2	2

RefSeq proteins (3): NP_001271324, NP_001271325, NP_064597* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006885	NADH_UbQ_FeS_4_mit-like	Family
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR049547	WDR93_beta-prop	Repeat

Pfam: PF21030

UniProt features (12 total): sequence conflict 3, sequence variant 3, compositionally biased region 2, chain 1, repeat 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P2C0-F1	77.63	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_ELECTRON_TRANSPORT_CHAIN, WGTTNNNNNAAA_UNKNOWN, SCGGAAGY_ELK1_02, NUYTTEN_NIPP1_TARGETS_DN, chr15q26, DODD_NASOPHARYNGEAL_CARCINOMA_DN, ELK1_02, FOXN3_TARGET_GENES, RFX7_TARGET_GENES, ZNF423_TARGET_GENES, ZNF528_TARGET_GENES, MIR627_3P, MIR139_5P

GO Biological Process (1): electron transport chain (GO:0022900)

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

GO Cellular Component (1): respiratory chain complex I (GO:0045271)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
generation of precursor metabolites and energy	1
binding	1
NADH dehydrogenase complex	1
respiratory chain complex	1
transmembrane transporter complex	1

Protein interactions and networks

STRING

446 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR93	CFAP221	Q4G0U5	839
WDR93	C1D	Q13901	603
WDR93	PEX11A	O75192	555
WDR93	NWD2	Q9ULI1	528
WDR93	CALML3	P27482	498
WDR93	CALML6	Q8TD86	498
WDR93	CALML4	Q96GE6	498
WDR93	CALML5	Q9NZT1	498
WDR93	CALM1	P02593	496
WDR93	ZNF844	Q08AG5	474
WDR93	RIMS4	Q9H426	468
WDR93	PPP1R36	Q96LQ0	452
WDR93	CWH43	Q9H720	450
WDR93	CLHC1	Q8NHS4	419
WDR93	FAM120AOS	Q5T036	418

IntAct

0 interactions, top by confidence:

BioGRID (1): CKMT1B (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0G2JEB6, A0JM56, B0DOB4, B0FXQ5, B1ANS9, B4F7L9, B4GQJ7, B5DHW4, B7FF06, B7FF07, B7FF08, B7FF09, B7FF12, C5IAW9, F1LW30, F1P4W9, O08747, O95185, P0DM40, Q008S8, Q18264, Q32NR9, Q3V0B4, Q402B2, Q4G0P3, Q5R4M2, Q5T0N1, Q5XI14, Q6AXU1, Q6DCF6, Q6NRS1, Q6P2C0, Q6P5D8, Q6UXZ4, Q6ZTR5, Q6ZU64, Q761X5, Q7T2Z5, Q80W93, Q86YR7

Diamond homologs: Q402B2, Q6P2C0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	50
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
183287	NM_020212.2(WDR93):c.280T>C (p.Tyr94His)	Likely pathogenic

SpliceAI

3155 predictions. Top by Δscore:

Variant	Effect	Δscore
15:89690854:CCAGG:C	donor_loss	1.0000
15:89690855:CAGG:C	donor_loss	1.0000
15:89690856:AGGT:A	donor_loss	1.0000
15:89690858:GTG:G	donor_loss	1.0000
15:89702048:AG:A	donor_loss	1.0000
15:89702057:G:GG	donor_gain	1.0000
15:89722050:TTTA:T	acceptor_loss	1.0000
15:89722052:TA:T	acceptor_loss	1.0000
15:89722053:A:AG	acceptor_gain	1.0000
15:89722053:A:T	acceptor_loss	1.0000
15:89722053:AG:A	acceptor_gain	1.0000
15:89722054:G:GG	acceptor_gain	1.0000
15:89722054:GG:G	acceptor_gain	1.0000
15:89722054:GGAT:G	acceptor_gain	1.0000
15:89722136:ACAGG:A	donor_loss	1.0000
15:89722137:CAGGT:C	donor_loss	1.0000
15:89722138:AG:A	donor_gain	1.0000
15:89722139:GG:G	donor_gain	1.0000
15:89722139:GGT:G	donor_loss	1.0000
15:89722140:G:C	donor_loss	1.0000
15:89722140:G:GG	donor_gain	1.0000
15:89722141:T:A	donor_loss	1.0000
15:89727152:CCTA:C	acceptor_loss	1.0000
15:89727153:CTA:C	acceptor_loss	1.0000
15:89727156:G:GA	acceptor_loss	1.0000
15:89727290:G:GT	donor_gain	1.0000
15:89727290:GAA:G	donor_gain	1.0000
15:89690853:GCCAG:G	donor_gain	0.9900
15:89690858:G:GG	donor_gain	0.9900
15:89690859:T:A	donor_loss	0.9900

AlphaMissense

4523 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:89715027:T:A	W230R	0.993
15:89715027:T:C	W230R	0.993
15:89712090:C:A	A209D	0.985
15:89714998:T:C	L220P	0.981
15:89731457:T:A	W409R	0.981
15:89731457:T:C	W409R	0.981
15:89703017:T:C	F124S	0.974
15:89731547:T:A	W439R	0.973
15:89731547:T:C	W439R	0.973
15:89729709:T:A	W384R	0.970
15:89729709:T:C	W384R	0.970
15:89703119:T:C	L158P	0.968
15:89705566:T:C	L170P	0.968
15:89722098:C:G	P280R	0.968
15:89712089:G:C	A209P	0.966
15:89715004:T:A	V222E	0.964
15:89702996:T:C	F117S	0.961
15:89737718:T:C	F585S	0.959
15:89715029:G:C	W230C	0.957
15:89715029:G:T	W230C	0.957
15:89712086:G:C	A208P	0.956
15:89702995:T:C	F117L	0.954
15:89702997:T:A	F117L	0.954
15:89702997:T:G	F117L	0.954
15:89705566:T:G	L170R	0.951
15:89715013:T:C	L225S	0.950
15:89703002:G:A	G119E	0.949
15:89703133:G:C	D163H	0.949
15:89729736:T:G	Y393D	0.948
15:89738103:T:C	F610L	0.948

dbSNP variants (sampled 300 via entrez): RS1000127902 (15:89696267 A>C,G), RS1000222397 (15:89715534 A>G), RS1000327881 (15:89716486 T>C), RS1000329520 (15:89733710 A>G), RS1000409799 (15:89689767 C>A), RS1000475233 (15:89723753 G>C), RS1000487780 (15:89714332 T>C), RS1000489282 (15:89736682 C>G), RS1000572114 (15:89694875 G>A,C), RS1000602085 (15:89711454 G>C), RS1000659732 (15:89718196 C>T), RS1000695799 (15:89732157 G>A), RS1000775459 (15:89717859 G>GTGTT), RS1000788795 (15:89732499 A>C), RS1000864526 (15:89691680 A>G)

Disease associations

OMIM: gene MIM:619891 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal recessive

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, decreases expression, decreases methylation	3
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
Lipopolysaccharides	affects response to substance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder