FOCAD

Summary

FOCAD (focadhesin, HGNC:23377) is a protein-coding gene on chromosome 9p21.3, encoding Focadhesin (Q5VW36). Required for the maintenance of SKIC2 and SKIC3 proteostatic levels in the liver.

Predicted to be involved in regulation of post-transcriptional gene silencing. Located in cytosol and focal adhesion.

Source: NCBI Gene 54914 — RefSeq curated summary.

At a glance

• Gene–disease (curated): liver disease, severe congenital (Strong, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 1,117 total — 7 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 105
• MANE Select transcript: NM_001375567

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23377
Approved symbol	FOCAD
Name	focadhesin
Location	9p21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20375
Ensembl gene	ENSG00000188352
Ensembl biotype	protein_coding
OMIM	614606
Entrez	54914

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 26 protein_coding, 8 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000338382, ENST00000380249, ENST00000603044, ENST00000603492, ENST00000603552, ENST00000603610, ENST00000603631, ENST00000603648, ENST00000603695, ENST00000603844, ENST00000604103, ENST00000604254, ENST00000604828, ENST00000605031, ENST00000605086, ENST00000605852, ENST00000894775, ENST00000894776, ENST00000894777, ENST00000894778, ENST00000894779, ENST00000894780, ENST00000894781, ENST00000894782, ENST00000894783, ENST00000894784, ENST00000894785, ENST00000939137, ENST00000939138, ENST00000939139, ENST00000939140, ENST00000939141, ENST00000939142, ENST00000964696, ENST00000964697, ENST00000964698, ENST00000964699

RefSeq mRNA: 4 — MANE Select: NM_001375567 NM_001375567, NM_001375568, NM_001375570, NM_017794

CCDS: CCDS34993

Canonical transcript exons

ENST00000338382 — 44 exons

Exon	Start	End
ENSE00001368498	20981426	20981686
ENSE00001371001	20986288	20986465
ENSE00001372930	20976420	20976548
ENSE00001388258	20982357	20982446
ENSE00001388711	20988332	20988429
ENSE00001405481	20990123	20990374
ENSE00001406065	20993253	20993328
ENSE00001411238	20948851	20948928
ENSE00001411813	20949604	20949675
ENSE00001421708	20950996	20951098
ENSE00001422737	20944627	20944774
ENSE00001423303	20946701	20946820
ENSE00001423768	20948271	20948393
ENSE00001425411	20933014	20933103
ENSE00001484401	20926301	20926417
ENSE00001484403	20923660	20923768
ENSE00001484406	20916893	20916937
ENSE00001484407	20912866	20912954
ENSE00001484425	20866929	20867012
ENSE00001484426	20865926	20865976
ENSE00001484439	20819796	20819900
ENSE00001484442	20789351	20789608
ENSE00001484445	20781727	20781929
ENSE00001484447	20778681	20778768
ENSE00001484449	20770032	20770238
ENSE00001484459	20720380	20720534
ENSE00003460618	20820324	20820425
ENSE00003480804	20764869	20765073
ENSE00003493602	20758090	20758191
ENSE00003506689	20684259	20684293
ENSE00003522153	20881871	20882056
ENSE00003564265	20715322	20715410
ENSE00003574477	20978339	20978454
ENSE00003598987	20952985	20953065
ENSE00003599303	20822989	20823115
ENSE00003610776	20885109	20885230
ENSE00003611589	20862578	20862712
ENSE00003632543	20929358	20929596
ENSE00003659150	20740236	20740340
ENSE00003667317	20907150	20907242
ENSE00003669579	20820941	20821071
ENSE00003674768	20717794	20717868
ENSE00003694737	20874681	20874807
ENSE00003923932	20995556	20995950

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 96.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2897 / max 100.4753, expressed in 1688 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96268	6.1137	1655
96269	1.1170	555
96272	0.0358	18
96277	0.0232	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	96.86	gold quality
middle temporal gyrus	UBERON:0002771	94.70	gold quality
parotid gland	UBERON:0001831	92.53	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.46	gold quality
epithelium of bronchus	UBERON:0002031	91.51	gold quality
adrenal tissue	UBERON:0018303	91.47	gold quality
bronchial epithelial cell	CL:0002328	91.42	gold quality
bronchus	UBERON:0002185	91.08	gold quality
colonic epithelium	UBERON:0000397	90.57	gold quality
islet of Langerhans	UBERON:0000006	90.27	gold quality
endothelial cell	CL:0000115	90.22	silver quality
pituitary gland	UBERON:0000007	89.88	gold quality
adenohypophysis	UBERON:0002196	89.86	gold quality
primary visual cortex	UBERON:0002436	89.81	gold quality
right adrenal gland	UBERON:0001233	89.72	gold quality
right adrenal gland cortex	UBERON:0035827	89.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.86	gold quality
periodontal ligament	UBERON:0008266	88.83	gold quality
adrenal gland	UBERON:0002369	88.48	gold quality
left adrenal gland	UBERON:0001234	88.32	gold quality
right frontal lobe	UBERON:0002810	88.10	gold quality
stromal cell of endometrium	CL:0002255	87.94	gold quality
left adrenal gland cortex	UBERON:0035825	87.93	gold quality
adrenal cortex	UBERON:0001235	87.80	gold quality
occipital lobe	UBERON:0002021	87.71	gold quality
right uterine tube	UBERON:0001302	87.61	gold quality
ganglionic eminence	UBERON:0004023	87.52	gold quality
apex of heart	UBERON:0002098	87.46	gold quality
prefrontal cortex	UBERON:0000451	87.34	gold quality
right lobe of thyroid gland	UBERON:0001119	87.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	57.38
E-ANND-3	yes	7.27

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

23 targeting FOCAD, 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-4697-3P	99.89	67.09	1123
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-374B-3P	98.63	68.24	1360
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-4723-3P	97.67	65.91	1017
HSA-MIR-6769B-3P	97.41	65.53	1036
HSA-MIR-3183	97.40	65.68	978
HSA-MIR-1243	97.07	65.44	719
HSA-MIR-4529-5P	96.74	65.77	569
HSA-MIR-4436B-5P	96.71	68.37	1346
HSA-MIR-3654	96.43	66.55	646
HSA-MIR-4745-3P	83.50	60.58	126

Literature-anchored findings (GeneRIF, showing 8)

• KIAA1797 genetic variation is associated with heart rate. (PMID:20601674)
• This stduy showed that frequently deleted KIAA1797 gene encodes a novel focal adhesion complex protein with tumour suppressor function in gliomas. (PMID:22427331)
• The data suggests that nonallelic germline deletions in the tumor suppressor gene FOCAD underlie moderate genetic predisposition to the development of polyposis and CRC (PMID:25712196)
• Results identified cardiac FOCAD expression to be correlated with protein biosynthetic processes in the lung. mediator of this process between the heart and lung. (PMID:26856537)
• FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas. (PMID:31473790)
• FOCAD Indel in a Family With Juvenile Polyposis Syndrome. (PMID:35622075)
• Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. (PMID:35864190)
• Exosomal circKIAA1797 Regulates Cell Progression and Glycolysis by Targeting miR-4429/PBX3 Pathway in Gastric Cancer. (PMID:37730964)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	focad	ENSDARG00000022020
mus_musculus	Focad	ENSMUSG00000038368
rattus_norvegicus	Focad	ENSRNOG00000024402
drosophila_melanogaster	CG3520	FBGN0034859

Protein

Protein identifiers

Focadhesin — Q5VW36 (reviewed: Q5VW36)

All UniProt accessions (5): Q5VW36, S4R3N8, S4R3S9, S4R437, S4R450

UniProt curated annotations — full annotation on UniProt →

Function. Required for the maintenance of SKIC2 and SKIC3 proteostatic levels in the liver. May be involved in the regulation of RNA degradation by the exosome complex. Potential tumor suppressor in gliomas.

Subunit / interactions. Interacts with VCL.

Subcellular location. Cell junction. Focal adhesion. Cytoplasm. Cytosol.

Tissue specificity. Ubiquitous. High expression in brain followed by testis, muscle, pancreas, heart, ovary, small intestine, placenta, prostate, thymus, kidney, colon, liver, lung, spleen and leukocytes. Expression is reduced in most glioblastomas and all glioblastoma cell lines.

Disease relevance. Liver disease, severe congenital (SCOLIV) [MIM:619991] An autosomal recessive disease characterized by severe neonatal liver cirrhosis and progressive hepatic dysfunction. Affected individuals have feeding difficulties, poor overall growth, and failure to thrive with signs of malnutrition. Additional features include jaundice, abdominal distension, hepatomegaly or hepatosplenomegaly, and ascites in most patients. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (4): NP_001362496, NP_001362497, NP_001362499, NP_060264 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016024	ARM-type_fold	Homologous_superfamily
IPR021392	Focadhesin_C	Domain
IPR022542	FOCAD/RST1_DUF3730	Domain
IPR045163	Focadhesin/RST1	Family

Pfam: PF11229, PF12530

UniProt features (21 total): sequence variant 17, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VW36-F1	82.99	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 819

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 340 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, ACEVEDO_LIVER_CANCER_UP, GOCC_ANCHORING_JUNCTION, DODD_NASOPHARYNGEAL_CARCINOMA_DN, BAKKER_FOXO3_TARGETS_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, GSE13522_WT_VS_IFNAR_KO_SKIN_UP, GSE14699_NAIVE_VS_ACT_CD8_TCELL_DN, GSE14415_ACT_VS_CTRL_NATURAL_TREG_DN, HMGA1_TARGET_GENES, PAX3_TARGET_GENES, ZNF577_TARGET_GENES, ZNF8_TARGET_GENES, ZNF92_TARGET_GENES

GO Biological Process (1): regulation of post-transcriptional gene silencing (GO:0060147)

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

GO Cellular Component (4): cytosol (GO:0005829), focal adhesion (GO:0005925), cytoplasm (GO:0005737), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
regulation of gene expression	1
post-transcriptional gene silencing	1
binding	1
cytoplasm	1
cell-substrate junction	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FOCAD	AVEN	Q9NQS1	627
FOCAD	HACD4	Q5VWC8	601
FOCAD	SKIC2	Q15477	495
FOCAD	SKIC3	Q6PGP7	466
FOCAD	TEX35	Q5T0J7	379
FOCAD	FHIP2A	Q5W0V3	332
FOCAD	HEATR9	A2RTY3	330
FOCAD	EXOSC5	Q9NQT4	328
FOCAD	CDRT4	Q8N9R6	325
FOCAD	DMRTA1	Q5VZB9	323
FOCAD	MTREX	P42285	322
FOCAD	ZCCHC8	Q6NZY4	322
FOCAD	IFNW1	P05000	311
FOCAD	LRRC9	Q6ZRR7	310
FOCAD	ENTREP2	O60320	309

IntAct

55 interactions, top by confidence:

A	B	Type	Score
DIDO1	OGT	psi-mi:“MI:0914”(association)	0.670
ZBTB2	ZBTB25	psi-mi:“MI:0914”(association)	0.670
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
rep	ATE1	psi-mi:“MI:0914”(association)	0.640
BNIP1	NBAS	psi-mi:“MI:0914”(association)	0.640
NEDD1	CEP290	psi-mi:“MI:0914”(association)	0.480
FOCAD	UBE2D3	psi-mi:“MI:0915”(physical association)	0.370
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
SLAIN2	TARS3	psi-mi:“MI:0914”(association)	0.350
CCDC61	EPB41L2	psi-mi:“MI:0914”(association)	0.350
	BANF1	psi-mi:“MI:0914”(association)	0.350
CTTN		psi-mi:“MI:0914”(association)	0.350
PSPC1	MCRIP1	psi-mi:“MI:0914”(association)	0.350
RACK1	RPS3A	psi-mi:“MI:0914”(association)	0.350
RPS16	MCRIP1	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ZNF677	ZNF320	psi-mi:“MI:0914”(association)	0.350
CTCFL	TARS3	psi-mi:“MI:0914”(association)	0.350
GYPA	HYKK	psi-mi:“MI:0914”(association)	0.350
GPR182	METTL15	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
BTNL9	GPR89A	psi-mi:“MI:0914”(association)	0.350
AKR7L	KIF2A	psi-mi:“MI:0914”(association)	0.350
FTSJ3	SUPT5H	psi-mi:“MI:0914”(association)	0.350
CYB5B	QSOX1	psi-mi:“MI:0914”(association)	0.350
KIAA0408	USP9Y	psi-mi:“MI:0914”(association)	0.350

BioGRID (80): FOCAD (Affinity Capture-MS), FOCAD (Co-fractionation), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), VCL (Affinity Capture-Western), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-RNA), FOCAD (Affinity Capture-MS), FOCAD (Affinity Capture-MS), TUBB6 (Two-hybrid)

ESM2 similar proteins: A0JM24, A1A5R7, A2AKG8, A2CI34, D3YWQ0, F1MAB7, F6S215, O08653, O43149, O54705, O62699, P29477, P35608, P59438, P97499, Q06518, Q08DB2, Q20CR4, Q27995, Q28314, Q4R856, Q4TVR5, Q4VSN2, Q4VSN3, Q4VSN4, Q4VSN5, Q5BIW4, Q5EB20, Q5R6T6, Q5SSH7, Q5TEA3, Q5VW36, Q6NV72, Q6NXH8, Q6NXP6, Q6P996, Q6XUX0, Q6XUX1, Q6XUX2, Q6XUX3

Diamond homologs: A2AKG8, E7FGT5, Q5VW36

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
rRNA processing in the nucleus and cytosol	5	13.4×	5e-03
rRNA processing	5	12.2×	5e-03
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	5	9.8×	9e-03
Major pathway of rRNA processing in the nucleolus and cytosol	7	7.2×	5e-03
Metabolism of RNA	8	5.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1117 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	6
Uncertain significance	659
Likely benign	269
Benign	119

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1701016	NM_001375567.1(FOCAD):c.2587C>T (p.Arg863Ter)	Pathogenic
1701018	NM_001375567.1(FOCAD):c.5004G>C (p.Lys1668Asn)	Pathogenic
1701019	NM_001375567.1(FOCAD):c.2676dup (p.Trp893fs)	Pathogenic
1701020	NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter)	Pathogenic
1701021	NM_001375567.1(FOCAD):c.4343del (p.Leu1448fs)	Pathogenic
3027283	NM_001375567.1(FOCAD):c.4051+2T>C	Pathogenic
3906956	NM_001375567.1(FOCAD):c.1560+1G>T	Pathogenic
3065759	NM_001375567.1(FOCAD):c.2961+1G>T	Likely pathogenic
3347113	NM_001375567.1(FOCAD):c.2503+1G>T	Likely pathogenic
3391257	NM_001375567.1(FOCAD):c.3675+1G>A	Likely pathogenic
3597237	NM_001375567.1(FOCAD):c.457C>T (p.Gln153Ter)	Likely pathogenic
3906871	NM_001375567.1(FOCAD):c.4262del	Likely pathogenic
4293222	NM_001375567.1(FOCAD):c.5231_5241del (p.Glu1744fs)	Likely pathogenic

SpliceAI

8810 predictions. Top by Δscore:

Variant	Effect	Δscore
9:20715313:T:TA	acceptor_gain	1.0000
9:20715320:A:AG	acceptor_gain	1.0000
9:20715321:G:GA	acceptor_gain	1.0000
9:20715321:GAA:G	acceptor_gain	1.0000
9:20716861:C:G	donor_gain	1.0000
9:20720376:TCAG:T	acceptor_loss	1.0000
9:20720378:AGACT:A	acceptor_loss	1.0000
9:20720493:C:G	donor_gain	1.0000
9:20720532:CAGG:C	donor_loss	1.0000
9:20720534:GGTA:G	donor_loss	1.0000
9:20720535:G:T	donor_loss	1.0000
9:20758188:AAAG:A	donor_loss	1.0000
9:20758189:AAGGT:A	donor_loss	1.0000
9:20758191:GGTAA:G	donor_loss	1.0000
9:20758192:GTA:G	donor_loss	1.0000
9:20758193:T:A	donor_loss	1.0000
9:20770237:AGGTA:A	donor_loss	1.0000
9:20770238:GGT:G	donor_loss	1.0000
9:20770239:G:GC	donor_loss	1.0000
9:20770240:T:A	donor_loss	1.0000
9:20778675:TTTTA:T	acceptor_loss	1.0000
9:20778676:TTTA:T	acceptor_loss	1.0000
9:20778680:G:T	acceptor_loss	1.0000
9:20781717:T:TA	acceptor_gain	1.0000
9:20781723:ATAG:A	acceptor_loss	1.0000
9:20781724:TAGCT:T	acceptor_loss	1.0000
9:20781725:A:AG	acceptor_gain	1.0000
9:20781725:AGCT:A	acceptor_loss	1.0000
9:20781726:G:GC	acceptor_loss	1.0000
9:20781726:G:GG	acceptor_gain	1.0000

AlphaMissense

11756 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:20907201:T:A	W893R	0.998
9:20907201:T:C	W893R	0.998
9:20820414:T:A	W551R	0.997
9:20820414:T:C	W551R	0.997
9:20862599:T:A	W648R	0.997
9:20862599:T:C	W648R	0.997
9:20823089:G:C	G632R	0.996
9:20865956:T:A	W696R	0.996
9:20865956:T:C	W696R	0.996
9:20821059:T:A	I594K	0.995
9:20823102:T:C	L636P	0.995
9:20923707:T:C	L967P	0.995
9:20990354:T:A	W1746R	0.995
9:20990354:T:C	W1746R	0.995
9:20820960:T:C	L561P	0.994
9:20823093:T:C	L633P	0.994
9:20990168:T:A	W1684R	0.994
9:20990168:T:C	W1684R	0.994
9:20821059:T:G	I594R	0.993
9:20821061:T:C	C595R	0.993
9:20821063:T:G	C595W	0.993
9:20823104:T:C	C637R	0.993
9:20923700:A:C	S965R	0.993
9:20923702:C:A	S965R	0.993
9:20923702:C:G	S965R	0.993
9:20926331:T:A	W998R	0.993
9:20926331:T:C	W998R	0.993
9:20976509:T:A	W1408R	0.993
9:20976509:T:C	W1408R	0.993
9:20995606:T:A	W1795R	0.993

dbSNP variants (sampled 300 via entrez): RS1000001428 (9:20852810 A>G,T), RS1000004199 (9:20877093 C>G), RS1000005677 (9:20808677 G>A), RS1000033681 (9:20677722 A>G,T), RS1000035822 (9:20721359 A>T), RS1000039856 (9:20803152 A>G,T), RS1000048104 (9:20747627 C>G,T), RS1000052920 (9:20782454 G>A), RS1000057236 (9:20914659 G>A), RS1000060606 (9:20673606 T>A), RS1000077723 (9:20710837 A>T), RS1000077885 (9:20993212 A>G), RS1000085615 (9:20677500 A>G), RS1000085889 (9:20955295 C>T), RS1000092545 (9:20712736 T>TC)

Disease associations

OMIM: gene MIM:614606 | disease phenotypes: MIM:619991

GenCC curated gene-disease

Disease	Classification	Inheritance
liver disease, severe congenital	Strong	Autosomal recessive

Mondo (1): liver disease, severe congenital (MONDO:0859273)

Orphanet (0):

HPO phenotypes

105 total (30 of 105 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000023	Inguinal hernia
HP:0000034	Hydrocele testis
HP:0000047	Hypospadias
HP:0000126	Hydronephrosis
HP:0000286	Epicanthus
HP:0000325	Triangular face
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000403	Recurrent otitis media
HP:0000418	Narrow nasal ridge
HP:0000520	Proptosis
HP:0000639	Nystagmus
HP:0000736	Short attention span
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0000825	Hyperinsulinemic hypoglycemia
HP:0000952	Jaundice
HP:0000964	Eczematoid dermatitis
HP:0001252	Hypotonia
HP:0001357	Plagiocephaly
HP:0001382	Joint hypermobility
HP:0001397	Hepatic steatosis
HP:0001399	Hepatic failure
HP:0001406	Intrahepatic cholestasis
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001537	Umbilical hernia
HP:0001541	Ascites

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST002115_13	Axial length	9.000000e-06
GCST002498_4	Age-related nuclear cataracts	2.000000e-07
GCST006138_11	Resting-state electroencephalogram vigilance	5.000000e-06
GCST006956_16	Erectile dysfunction	7.000000e-06
GCST009190_13	Medial orbital frontal cortex volume	8.000000e-06
GCST009379_127	Type 2 diabetes	4.000000e-08
GCST009379_128	Type 2 diabetes	2.000000e-06
GCST009544_9	Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect)	9.000000e-06
GCST010989_147	Body size at age 10	1.000000e-08
GCST011494_43	Daytime nap	8.000000e-10
GCST90002390_385	Mean corpuscular hemoglobin	3.000000e-12
GCST90002392_533	Mean corpuscular volume	6.000000e-13
GCST90002403_606	Red blood cell count	5.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0004357	electroencephalogram measurement
EFO:0003959	cleft lip
EFO:0005939	parental genotype effect measurement
EFO:0009115	tobacco smoke exposure measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0007828	daytime rest measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Benzo(a)pyrene	decreases expression	4
Tobacco Smoke Pollution	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	decreases expression, increases oxidation, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation	1
Vehicle Emissions	decreases expression, increases abundance	1
Calcitriol	increases expression	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Ozone	increases oxidation, increases abundance, affects cotreatment, decreases expression	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	affects expression	1
Vitamin K 3	affects expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, decreases expression, increases oxidation	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1S9	Abcam HeLa FOCAD KO	Cancer cell line	Female
CVCL_E1XK	HAP1 FOCAD (-) 1	Cancer cell line	Male
CVCL_E1XL	HAP1 FOCAD (-) 2	Cancer cell line	Male
CVCL_E1XM	HAP1 FOCAD (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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