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APAF1

gene
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Also known as CED4APAF-1

Summary

APAF1 (apoptotic peptidase activating factor 1, HGNC:576) is a protein-coding gene on chromosome 12q23.1, encoding Apoptotic protease-activating factor 1 (O14727). Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis.

This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms.

Source: NCBI Gene 317 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): depressive disorder (Limited, GenCC)
  • GWAS associations: 3
  • Clinical variants (ClinVar): 182 total
  • Druggable target: yes — 6 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_181861

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:576
Approved symbolAPAF1
Nameapoptotic peptidase activating factor 1
Location12q23.1
Locus typegene with protein product
StatusApproved
AliasesCED4, APAF-1
Ensembl geneENSG00000120868
Ensembl biotypeprotein_coding
OMIM602233
Entrez317

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000333991, ENST00000357310, ENST00000359972, ENST00000546491, ENST00000547045, ENST00000547666, ENST00000547743, ENST00000549007, ENST00000550527, ENST00000551964, ENST00000552268, ENST00000552929, ENST00000555047, ENST00000715693, ENST00000926070, ENST00000926071, ENST00000953702

RefSeq mRNA: 5 — MANE Select: NM_181861 NM_001160, NM_013229, NM_181861, NM_181868, NM_181869

CCDS: CCDS55862, CCDS55863, CCDS9069, CCDS9070, CCDS9071

Canonical transcript exons

ENST00000551964 — 27 exons

ExonStartEnd
ENSE000008180239865916098659343
ENSE000008180249866245698662568
ENSE000008180279866267598662806
ENSE000008180289866555398665791
ENSE000008180309866619098666357
ENSE000008180339866751398667644
ENSE000008180349867097398671086
ENSE000008180379867153598671719
ENSE000008180399867742598677551
ENSE000008180419868027798680402
ENSE000008180439868314398683274
ENSE000008180449868674898686873
ENSE000008180469869940898699569
ENSE000008180549871231998712435
ENSE000008180559871542798715552
ENSE000008180579872319398723312
ENSE000008180639872717398727316
ENSE000009227259864862698648815
ENSE000009227279864948798649684
ENSE000012901319864831998648497
ENSE000035121609870337198703499
ENSE000035618399870648598706610
ENSE000036640489870858598708704
ENSE000036814549872541598725540
ENSE000036901869872363998723764
ENSE000040276139873242098735433
ENSE000040276149864529098645835

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 95.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.7848 / max 208.2473, expressed in 1751 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1275567.74931732
1275551.0356509

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
monocyteCL:000057695.01gold quality
mononuclear cellCL:000084294.62gold quality
leukocyteCL:000073894.43gold quality
ventricular zoneUBERON:000305392.23gold quality
cortical plateUBERON:000534392.05gold quality
bloodUBERON:000017891.80gold quality
bone marrow cellCL:000209291.74gold quality
ganglionic eminenceUBERON:000402390.91gold quality
colonic epitheliumUBERON:000039790.40gold quality
granulocyteCL:000009489.39gold quality
calcaneal tendonUBERON:000370189.22gold quality
trabecular bone tissueUBERON:000248388.88gold quality
bone marrowUBERON:000237188.50gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047386.42gold quality
buccal mucosa cellCL:000233685.70gold quality
tibiaUBERON:000097985.31gold quality
Brodmann (1909) area 9UBERON:001354085.12gold quality
C1 segment of cervical spinal cordUBERON:000646984.78gold quality
germinal epithelium of ovaryUBERON:000130484.55gold quality
right frontal lobeUBERON:000281083.88gold quality
embryoUBERON:000092283.79gold quality
tendonUBERON:000004383.53gold quality
colonic mucosaUBERON:000031783.24gold quality
amygdalaUBERON:000187683.23gold quality
cingulate cortexUBERON:000302783.13gold quality
visceral pleuraUBERON:000240183.12gold quality
prefrontal cortexUBERON:000045183.07gold quality
cerebellar hemisphereUBERON:000224583.06gold quality
mucosa of sigmoid colonUBERON:000499383.02gold quality
palpebral conjunctivaUBERON:000181282.99gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, E2F1, E2F6, ESR1, HDAC2, PLAGL1, SP1, TFAP2A, TP53

Literature-anchored findings (GeneRIF, showing 40)

  • Study shows that Drosophila miR-317 only targets Dif-Rc, but not Dif-Ra/b/d, implying that miRNAs can regulate different isoforms of an alternative splicing gene to fine tune immune responses and maintain homeostasis in post-transcriptional level. During Gram-positive bacterial infection, the overexpressed miR-317 flies have poor survival outcome suggesting that the miR-317 might play a key role in Drosophila survival. (PMID:30708026)
  • Apaf1 WD40 repeat domains form propellar-like structures that are important for procaspase 9 binding to the CARD domain. (PMID:11864614)
  • lack of role in caspase-9 activation in Sendai virus-infected cells (PMID:12021264)
  • APAF-1 is under transcriptional regulation of E2F-1 and initiates a caspase cascade (PMID:12149244)
  • Data show that the trace amount of cytochrome c present in neutrophils is both necessary and sufficient for apoptotic protease-activating factor 1 (Apaf-1)-dependent caspase activation in these cells. (PMID:12615903)
  • function of Apaf-1 is not only to oligomerize procaspase-9 but also to maintain the interaction of the caspase-9 protease domain after processing (PMID:12637514)
  • alternatively spliced APAF-1-ALT is a molecule that is deficient and impeded for mediating apoptosis and may contribute to the resistance to DNA damage-induced treatment observed in LNCaP (PMID:12804598)
  • Bcl-XL directly binds to the ATPase domain of Apaf-1. (PMID:12963020)
  • AMF regulates expression of Apaf-1 and caspase-9 genes via a complex signaling pathway and indirectly regulates formation of the apoptosome. (PMID:14566819)
  • the cytochrome c-Apaf-1-procaspase-9 complex functions in the caspase amplification rather than in its initiation (PMID:14747474)
  • the functional apoptosome complex in apoptotic cells consists primarily of Apaf-1 and processed caspase-9 (PMID:14993223)
  • Loss of APAF-1 expression can be considered an indicator of malignant transformation in melanoma. (PMID:15009102)
  • Allelic imbalance of 12q22-23 associated with APAF-1 locus correlates with poor disease outcome in cutaneous melanoma (PMID:15026369)
  • Apaf-1 proteolytic degradation does not significantly abrogate either the apoptotic morphology or the cleavage of canonical targets. (PMID:15033720)
  • Apaf-1 expression is significantly reduced in human melanoma and Apaf-1 may serve as a therapeutic target in melanoma. (PMID:15305193)
  • results suggest that APAF-1 gene haploinsufficiency caused by AI increases with tumor progression, and relates to hepatic metastasis (PMID:15378005)
  • Limiting Apaf-1 activity may alleviate both pathological protein aggregation and neuronal cell death in HD. (PMID:15590702)
  • there is an inverse correlation between Apaf-1 expression and pathologic stage of melanoma (PMID:15649154)
  • noncytosolic localization of Apaf-1 may constitute a novel mechanism of chemoresistance in B lymphoma (PMID:15692060)
  • Protein kinase A regulates caspase-9 activation by Apaf-1 downstream of cytochrome c (PMID:15703181)
  • Apaf-1 expression in 15 melanoma cell lines (PMID:15832174)
  • Apaf-1 levels vary in melanoma (PMID:15832175)
  • Loss of Apaf-1 expression may represent a marker of aggressive tumor behavior since it correlates significantly with the occurrence of lymph node metastasis in cervical cancer. (PMID:15863166)
  • Methylation silencing is a mechanism of the inactivation of APAF1 in acute leukemia. (PMID:15972851)
  • Using different cell lines of neuronal origin and modulating the expression of both mutant SOD1s and Apaf1, we show that the removal of Apaf1 prevents cells death. (PMID:16046141)
  • No coorelation between apaf-1 expression in melanoma and malignancy (PMID:16098052)
  • The depression-associated alleles thus have a common phenotype that is distinct from that of non-associated variants (PMID:16231040)
  • Apaf-1 gene structure and function and its role in apoptotic machinery. Involvement in melanoma progression and chemoresistance, as well as clinico-pathological relevance of these findings in treatment of this deadly disease. Review. (PMID:16232302)
  • poor prognosis was observed in patients with loss of APAF-1 expression and additional p53 mutation; thus, loss of APAF-1 may become relevant when additional core apoptosis signaling components are disrupted (PMID:16331630)
  • These results suggest that Apaf-1 expression may become a prognostic marker for progress of human cutaneous melanoma and further support the notion that loss of Apaf-1 may be an important contributory factor in the development of the disease. (PMID:16420245)
  • progression of UV-induced apoptosis requires IRES-mediated translation of Apaf-1 to ensure continuous levels of Apaf-1 despite an overall suppression of protein synthesis (PMID:16595687)
  • The promoter hypermethylation of APAF-1 is a marker of aggressive renal cell carcinoma and provides independent prognostic information on disease outcome. (PMID:16951219)
  • Methylation of APAF-1 is associated with bladder and kidney cancer (PMID:17133271)
  • Data support a model in which Apaf-1 is necessary for the cleavage or activation of all procaspases and the promotion of mitochondrial apoptotic events induced by genotoxic drugs. (PMID:17348858)
  • mRNA elevation of apaf1 during blast crisis indicates an involvement in chronic myelogenous leukemia disease progression. (PMID:17361096)
  • APAF-1 methylation is related to transcriptional activity of EZH2 expression in early-stage tumor disease of the bladder. (PMID:17541304)
  • Fas receptor and Apaf-1 were down-regulated in stage III colorectal cancer cell line. (PMID:17603079)
  • The expression of Apaf-1 gene is low in gastric cancer tissues. Methylation of Apaf-1 gene promoter and LOH in domain of 12q22-23 are the main reasons for the expression and altered expression of Apaf-1 gene. (PMID:17876870)
  • Reduced expression of Apaf-1 is associated with colorectal adenocarcinoma (PMID:17882496)
  • These findings suggest that the efflux of K(+) is prerequisite not only for the formation of the apoptosome but also for the downstream apoptotic signal-transduction pathways. (PMID:17885667)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioapaf1ENSDARG00000021239
mus_musculusApaf1ENSMUSG00000019979
rattus_norvegicusApaf1ENSRNOG00000008022
drosophila_melanogasterDarkFBGN0263864

Protein

Protein identifiers

Apoptotic protease-activating factor 1 — O14727 (reviewed: O14727)

All UniProt accessions (3): C9JLV4, O14727, F8VNZ0

UniProt curated annotations — full annotation on UniProt →

Function. Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis.

Subunit / interactions. Monomer. Oligomerizes to a heptameric ring, known as the apoptosome, upon binding of cytochrome c and dATP. Oligomeric Apaf-1 and pro-caspase-9 bind to each other via their respective NH2-terminal CARD domains and consecutively mature caspase-9 is released from the complex. Pro-caspase-3 is recruited into the Apaf-1-pro-caspase-9 complex via interaction with pro-caspase-9. Interacts with APIP. Interacts (via CARD and NACHT domains) with NAIP/BIRC1 (via NACHT domain). Interacts with CIAO2A.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitous. Highest levels of expression in adult spleen and peripheral blood leukocytes, and in fetal brain, kidney and lung. Isoform 1 is expressed in heart, kidney and liver.

Domain organisation. The CARD domain mediates interaction with APIP. The monomeric form is autoinhibited in a closed conformation through a bound ADP at the nucleotide binding site. Exchange of ADP for ATP and binding of cytochrome c trigger a large conformational change where the first WD repeat region swings out, allowing the NB-ARC domain to rotate and expose the contact areas for oligomerization.

Induction. By E2F and p53/TP53 in apoptotic neurons. Translation is inhibited by HNRPA1, which binds to the IRES of APAF1 mRNAs.

Miscellaneous. Physiological concentrations of calcium ions negatively affect the assembly of apoptosome by inhibiting nucleotide exchange in the monomeric form.

Isoforms (6)

UniProt IDNamesCanonical?
O14727-11, Apaf-1XLyes
O14727-22, Apaf-1L
O14727-33, Apaf-1S
O14727-44, Apaf-1M
O14727-55, Apaf-1XS
O14727-66, Apaf-1-ALT

RefSeq proteins (5): NP_001151, NP_037361, NP_863651, NP_863658, NP_863659 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001315CARDDomain
IPR001680WD40_rptRepeat
IPR002182NB-ARCDomain
IPR011029DEATH-like_dom_sfHomologous_superfamily
IPR015943WD40/YVTN_repeat-like_dom_sfHomologous_superfamily
IPR017251Apaf-1Family
IPR019775WD40_repeat_CSConserved_site
IPR020472WD40_PAC1Repeat
IPR027417P-loop_NTPaseHomologous_superfamily
IPR036322WD40_repeat_dom_sfHomologous_superfamily
IPR036388WH-like_DNA-bd_sfHomologous_superfamily
IPR037963APAF1_CARD_domDomain
IPR041452APAF1_CDomain
IPR042197Apaf_helicalHomologous_superfamily
IPR048975WHD_APAF1Domain

Pfam: PF00400, PF00619, PF00931, PF17908, PF21296

UniProt features (103 total): helix 39, sequence conflict 23, repeat 15, strand 8, splice variant 6, turn 4, domain 2, binding site 2, mutagenesis site 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

14 structures.

PDBMethodResolution (Å)
1CY5X-RAY DIFFRACTION1.3
2P1HX-RAY DIFFRACTION1.59
2YGSX-RAY DIFFRACTION1.6
4RHWX-RAY DIFFRACTION2.1
1Z6TX-RAY DIFFRACTION2.21
3YGSX-RAY DIFFRACTION2.5
8XQKX-RAY DIFFRACTION2.85
5WVCX-RAY DIFFRACTION2.99
3JBTELECTRON MICROSCOPY3.8
5JUYELECTRON MICROSCOPY4.1
5WVEELECTRON MICROSCOPY4.4
3J2TELECTRON MICROSCOPY9.5
1C15SOLUTION NMR
1CWWSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O14727-F185.600.36

Functional residue map

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

Ligand- & substrate-binding residues (2): 154–161; 265

Mutagenesis-validated functional residues (2):

PositionPhenotype
160no association with apaf-1. no binding to pro-caspase-9.
368activation of pro-caspase-9 independent of cytochrome c. increased ability to induce apoptosis.

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

IDPathway
R-HSA-111458Formation of apoptosome
R-HSA-111459Activation of caspases through apoptosome-mediated cleavage
R-HSA-111463SMAC (DIABLO) binds to IAPs
R-HSA-111464SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
R-HSA-6798695Neutrophil degranulation
R-HSA-6803207TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-8953750Transcriptional Regulation by E2F6
R-HSA-9627069Regulation of the apoptosome activity
R-HSA-109581Apoptosis
R-HSA-109606Intrinsic Pathway for Apoptosis
R-HSA-111461Cytochrome c-mediated apoptotic response
R-HSA-111469SMAC, XIAP-regulated apoptotic response
R-HSA-111471Apoptotic factor-mediated response
R-HSA-168249Innate Immune System
R-HSA-168256Immune System
R-HSA-212436Generic Transcription Pathway
R-HSA-3700989Transcriptional Regulation by TP53
R-HSA-5357801Programmed Cell Death
R-HSA-5633008TP53 Regulates Transcription of Cell Death Genes
R-HSA-73857RNA Polymerase II Transcription
R-HSA-74160Gene expression (Transcription)

MSigDB gene sets: 353 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, PEREZ_TP63_TARGETS, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, GOBP_DNA_CATABOLIC_PROCESS

GO Biological Process (21): response to hypoxia (GO:0001666), kidney development (GO:0001822), neural tube closure (GO:0001843), apoptotic process (GO:0006915), nervous system development (GO:0007399), response to nutrient (GO:0007584), cardiac muscle cell apoptotic process (GO:0010659), cell differentiation (GO:0030154), forebrain development (GO:0030900), regulation of apoptotic process (GO:0042981), positive regulation of apoptotic process (GO:0043065), neuron apoptotic process (GO:0051402), intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059), cellular response to transforming growth factor beta stimulus (GO:0071560), response to G1 DNA damage checkpoint signaling (GO:0072432), intrinsic apoptotic signaling pathway (GO:0097193), regulation of apoptotic DNA fragmentation (GO:1902510), positive regulation of apoptotic signaling pathway (GO:2001235), brain development (GO:0007420), system development (GO:0048731), apoptotic signaling pathway (GO:0097190)

GO Molecular Function (8): nucleotide binding (GO:0000166), ATP binding (GO:0005524), cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656), heat shock protein binding (GO:0031072), identical protein binding (GO:0042802), ADP binding (GO:0043531), cysteine-type endopeptidase activator activity (GO:0140608), protein binding (GO:0005515)

GO Cellular Component (9): extracellular region (GO:0005576), nucleus (GO:0005634), cytosol (GO:0005829), protein-containing complex (GO:0032991), secretory granule lumen (GO:0034774), apoptosome (GO:0043293), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-14 pathways:

CategoryPathways
Cytochrome c-mediated apoptotic response2
SMAC, XIAP-regulated apoptotic response2
Generic Transcription Pathway2
Apoptotic factor-mediated response2
Innate Immune System1
TP53 Regulates Transcription of Cell Death Genes1
Formation of apoptosome1
Programmed Cell Death1
Apoptosis1
Intrinsic Pathway for Apoptosis1
Immune System1
RNA Polymerase II Transcription1
Transcriptional Regulation by TP531
Gene expression (Transcription)1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
apoptotic signaling pathway3
apoptotic process3
cellular anatomical structure3
animal organ development2
anatomical structure development2
adenyl ribonucleotide binding2
protein binding2
response to stress1
response to decreased oxygen levels1
renal system development1
primary neural tube formation1
tube closure1
programmed cell death1
execution phase of apoptosis1
system development1
response to nutrient levels1
response to chemical1
striated muscle cell apoptotic process1
cellular developmental process1
brain development1
regulation of programmed cell death1
regulation of apoptotic process1
positive regulation of programmed cell death1
response to endoplasmic reticulum stress1
intrinsic apoptotic signaling pathway1
cellular response to growth factor stimulus1
response to transforming growth factor beta1
response to mitotic cell cycle checkpoint signaling1
response to DNA damage checkpoint signaling1
intracellular signal transduction1
apoptotic DNA fragmentation1
regulation of DNA catabolic process1
positive regulation of signal transduction1
positive regulation of apoptotic process1
regulation of apoptotic signaling pathway1
central nervous system development1
head development1
multicellular organism development1
nucleoside phosphate binding1
heterocyclic compound binding1

Protein interactions and networks

STRING

4922 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
APAF1CYCSP00001999
APAF1CASP9P55211999
APAF1HSPA4P34932993
APAF1BCL2L1Q07817992
APAF1BCL2P10415992
APAF1HSP90AA1P07900990
APAF1HSP90AB1P08238988
APAF1CASP3P42574986
APAF1DIABLOQ9NR28986
APAF1AVENQ9NQS1961
APAF1CASP8Q14790947
APAF1APIPQ96GX9922
APAF1XIAPP98170896
APAF1BAXP55269892
APAF1BCL2L11O43521887

IntAct

89 interactions, top by confidence:

ABTypeScore
APAF1CASP9psi-mi:“MI:0407”(direct interaction)0.960
CASP9APAF1psi-mi:“MI:0407”(direct interaction)0.960
APAF1CASP9psi-mi:“MI:0915”(physical association)0.960
APAF1CASP9psi-mi:“MI:0914”(association)0.960
CASP9APAF1psi-mi:“MI:0915”(physical association)0.960
RFXANKRFXAPpsi-mi:“MI:0914”(association)0.780
APAF1CYCSpsi-mi:“MI:0915”(physical association)0.690
CYCSAPAF1psi-mi:“MI:0915”(physical association)0.690
APAF1CASP3psi-mi:“MI:0194”(cleavage reaction)0.650
APAF1CASP3psi-mi:“MI:0407”(direct interaction)0.650
CASP3APAF1psi-mi:“MI:0194”(cleavage reaction)0.650

BioGRID (136): CASP9 (Reconstituted Complex), APAF1 (Affinity Capture-RNA), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-Western), HSP90B1 (Affinity Capture-Western), CASP9 (Affinity Capture-Western), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), APAF1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMU5, A1A4L5, A2AV36, A2Y8B9, B0X4N1, B3DLB3, B3M1E1, B3MF31, B3P4N5, B4GZ20, B4HJC0, B4I8G2, B4JXV2, B4KA23, B4LVS8, B4NKI9, B4P925, B4PVH6, B4QI55, B4QVW6, B6DMK2, D9IVE5, O14727, O60678, O70467, O88879, Q0V9P1, Q16NS8, Q29B63, Q3EBC8, Q3U213, Q3U3W5, Q4SBY6, Q5RAY7, Q5ZIB9, Q6P2P2, Q6P5U7, Q6PCI6, Q7QIL2, Q80VJ4

Diamond homologs: A0CH87, A0DB19, A1CF18, A1CUD6, A7S338, A8NEG8, A8XZJ9, A9V790, B0LSW3, B0XM00, B2AEZ5, B2B766, B2VWG7, B3MEY6, B3NPW0, B3S4I5, B4GAJ1, B4HSL3, B4JWA1, B4KT48, B4LQ21, B4MY65, B4P6P9, B4QHG6, B5X3C4, B5X3Z6, B6GZD3, B6HP56, B6QC06, B7FNU7, B7PS00, B8N9H4, B8P4B0, B8PD53, B9WD30, C0NRC6, C0S902, C1GB49, C3XVT5, C4Q0P6

SIGNOR signaling

12 interactions.

AEffectBMechanism
APIPdown-regulatesAPAF1binding
APAF1“up-regulates activity”CASP9binding
CYCS“up-regulates activity”APAF1binding
APAF1up-regulatesCASP9binding
BCL2L1“down-regulates activity”APAF1binding
HSPA1Adown-regulatesAPAF1binding
HSP90AB1down-regulatesAPAF1binding
APAF1“form complex”Apoptosomebinding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance123
Likely benign17
Benign12

Top pathogenic / likely-pathogenic (0)

SpliceAI

4947 predictions. Top by Δscore:

VariantEffectΔscore
12:98645956:G:GTdonor_gain1.0000
12:98645977:G:GTdonor_gain1.0000
12:98648486:G:GGdonor_gain1.0000
12:98648780:GTG:Gdonor_gain1.0000
12:98648794:G:GGdonor_gain1.0000
12:98649477:T:TAacceptor_gain1.0000
12:98649478:G:Aacceptor_gain1.0000
12:98649482:TTTA:Tacceptor_loss1.0000
12:98649484:TAG:Tacceptor_loss1.0000
12:98649485:A:AGacceptor_gain1.0000
12:98649485:A:ATacceptor_loss1.0000
12:98649486:G:GGacceptor_gain1.0000
12:98649486:GT:Gacceptor_gain1.0000
12:98649486:GTA:Gacceptor_gain1.0000
12:98649486:GTAA:Gacceptor_gain1.0000
12:98649681:GAAG:Gdonor_gain1.0000
12:98649683:AGG:Adonor_loss1.0000
12:98649685:G:Tdonor_loss1.0000
12:98649686:T:Adonor_loss1.0000
12:98659156:CTA:Cacceptor_loss1.0000
12:98659158:A:ATacceptor_loss1.0000
12:98659159:G:GTacceptor_loss1.0000
12:98662452:TTAGG:Tacceptor_loss1.0000
12:98662453:TA:Tacceptor_loss1.0000
12:98662454:A:AGacceptor_gain1.0000
12:98662454:AGGT:Aacceptor_loss1.0000
12:98662455:G:GAacceptor_loss1.0000
12:98662455:G:GGacceptor_gain1.0000
12:98662455:GGT:Gacceptor_gain1.0000
12:98662455:GGTCT:Gacceptor_gain1.0000

AlphaMissense

8301 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:98686847:A:CS760R0.999
12:98686849:T:AS760R0.999
12:98686849:T:GS760R0.999
12:98659183:T:AW184R0.998
12:98659183:T:CW184R0.998
12:98665609:T:AW338R0.997
12:98665609:T:CW338R0.997
12:98677523:C:AA631D0.996
12:98659300:G:CA223P0.995
12:98659313:T:CL227P0.994
12:98662527:T:CL261P0.994
12:98671664:G:CA580P0.994
12:98649640:C:TS161F0.993
12:98659229:T:CL199P0.993
12:98659238:T:CL202P0.993
12:98683146:T:AW684R0.993
12:98683146:T:CW684R0.993
12:98648711:T:CL75P0.992
12:98665631:T:CL345P0.992
12:98666263:T:CL423P0.992
12:98699519:T:AW806R0.992
12:98699519:T:CW806R0.992
12:98649514:T:AV119E0.991
12:98649634:G:AG159E0.991
12:98659185:G:CW184C0.991
12:98659185:G:TW184C0.991
12:98659310:G:CR226P0.991
12:98662473:A:TD243V0.991
12:98665580:G:AG328D0.991
12:98665607:G:CR337P0.991

dbSNP variants (sampled 300 via entrez): RS1000021515 (12:98656810 G>T), RS1000047211 (12:98649500 G>A,T), RS1000086190 (12:98677657 A>G), RS1000173660 (12:98658582 A>G), RS1000197856 (12:98658219 G>T), RS1000275056 (12:98676937 G>A), RS1000307638 (12:98676690 A>G), RS1000329866 (12:98669984 G>A), RS1000426991 (12:98713117 C>G), RS1000441087 (12:98665337 AATAAAG>A), RS1000471035 (12:98645945 T>A), RS1000524097 (12:98726104 G>A,C), RS1000544932 (12:98681487 G>A), RS1000606577 (12:98682743 G>A), RS1000655392 (12:98695194 A>G)

Disease associations

OMIM: gene MIM:602233 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
depressive disorderLimitedAutosomal dominant

Mondo (2): neural tube defect (MONDO:0018075), depressive disorder (MONDO:0002050)

Orphanet (2): Neural tube defect (Orphanet:3388), Spina bifida and other spinal dysraphisms (Orphanet:823)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST90020026_497Hip index3.000000e-09
GCST90020028_1674Hip circumference adjusted for BMI4.000000e-11
GCST90020028_1675Hip circumference adjusted for BMI5.000000e-08

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0008039BMI-adjusted hip circumference

MeSH disease descriptors (2)

DescriptorNameTree numbers
D003866Depressive DisorderF03.600.300
D009436Neural Tube DefectsC10.500.680; C16.131.666.680

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1795093 (SINGLE PROTEIN), CHEMBL3885517 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

6 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 394,134 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL1200883THONZONIUM BROMIDE41,098
CHEMBL1541CEFIXIME427,787
CHEMBL359744DOXORUBICIN HYDROCHLORIDE4141,917
CHEMBL405110METHYLENE BLUE ANHYDROUS4113,934
CHEMBL221753BENZETHONIUM CHLORIDE2104,434
CHEMBL267447CALANOLIDE A14,964

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

Binding affinities (BindingDB)

396 measured of 488 human assays (538 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValue
4-methoxy-N-(6-methoxy-4H-indeno[1,2-d][1,3]thiazol-2-yl)benzamideIC5023 nM
2,5-bis(chloranyl)-3-[2-(dimethylamino)-1,3-thiazol-5-yl]-6-pyrrolidin-1-yl-cyclohexa-2,5-diene-1,4-dioneEC50210 nM
8-fluoranylindolo[2,1-b]quinazoline-6,12-dioneIC50433 nM
(NE)-N-[3-[(4-hydroxyphenyl)amino]-4-oxidanylidene-naphthalen-1-ylidene]-4-methoxy-benzenesulfonamideIC50441 nM
MLS002153809IC50443 nM
MLS000585839IC50453 nM
1-[2,3-bis(2-furanyl)-6-quinoxalinyl]-3-(2-methoxyethyl)ureaIC50492 nM
4-[(E)-[3-(2-methylanilino)-4-oxo-1-naphthalenylidene]amino]sulfonylbenzoic acidIC50522 nM
3-[[(4E)-1-keto-4-tosylimino-2-naphthyl]amino]benzoic acidIC50524 nM
2-amino-4-[4-(4-chlorobenzyl)oxy-3-methoxy-phenyl]-6-phenyl-1,4-dihydropyrimidine-5-carboxylic acid ethyl esterEC50580 nM
4-[(E)-[3-(2-fluoroanilino)-4-keto-1-naphthylidene]amino]sulfonylbenzoic acidIC50638 nM
SMR000186252IC50707 nM
cid_4422714IC50798 nM
3-[[(4E)-4-(2,4-dimethylphenyl)sulfonylimino-1-keto-2-naphthyl]amino]benzoic acidIC50919 nM
3-[[(4E)-4-(4-ethylphenyl)sulfonylimino-1-keto-2-naphthyl]amino]benzoic acidIC50926 nM
1H-Benzo[a]carbazole-1,4(11H)-dione, 8-methoxy-11- methyl-IC50946 nM
4-[[(4E)-4-(4-ethylphenyl)sulfonylimino-1-keto-2-naphthyl]amino]benzoic acidIC50966 nM
4-({(4Z)-1-oxo-4-[(phenylsulfonyl)imino]-1,4-dihydronaphthalen-2-yl}amino)benzoic acidIC50967 nM
1-Decyloxycarbonylmethyl-3-methyl-2-o-tolyloxymethyl-3H-benzoimidazol-1-iumEC501020 nM
(6E)-6-[[[2,6-bis(1-pyrrolidinyl)-4-pyrimidinyl]hydrazo]methylidene]-1-cyclohexa-2,4-dienoneIC501030 nM
2-[[2-[2-(dimethylamino)ethylamino]-1-oxoethyl]amino]-4-(4-phenylphenyl)-3-thiophenecarboxylic acid ethyl ester;hydrochlorideEC501090 nM
2-[3-[2-hydroxyethyl(dimethyl)azaniumyl]propanoylamino]-2-methyl-propane-1-sulfonateEC501160 nM
MLS002471441IC501220 nM
2-[5-[(Z)-(3-bromanyl-8-oxidanylidene-[1,3]thiazolo[4,5]imidazo[1,2-b]pyridin-7-ylidene)methyl]furan-2-yl]benzoic acidIC501250 nM
4-[(E)-[3-(2-carbomethoxyanilino)-4-keto-1-naphthylidene]amino]sulfonylbenzoic acidIC501260 nM
4-[3-[(5Z)-4-keto-2-thioxo-5-veratrylidene-thiazolidin-3-yl]propanoylamino]benzoic acidIC501270 nM
SMR000516584IC501270 nM
(NE)-4-ethyl-N-[3-(4-hydroxyanilino)-4-keto-1-naphthylidene]benzenesulfonamideIC501280 nM
cid_738951IC501380 nM
4-[(5E)-5-[[5-(1,3-benzothiazol-2-yl)-2-furanyl]methylidene]-4-oxo-2-sulfanylidene-3-thiazolidinyl]butanoic acidIC501380 nM
1-ethyl-6-methyl-3-[(E)-2-phenylethenyl]pyrimido[5,4-e][1,2,4]triazine-5,7-dioneEC501440 nM
3-(4-fluorophenyl)-4,5-dihydro-1,2-oxazole-5-carboxylic acidEC501450 nM
(5S)-4-[2-(3,4-dichlorophenyl)ethyl]-1-[(1R)-5-[methyl(p-anisyl)amino]-1-[(p-anisylamino)methyl]pentyl]-5-phenyl-piperazine-2,3-quinoneEC501480 nM
6-bromo-3-(2-methoxyanilino)-2H-isoquinolin-1-oneIC501510 nM
(8S)-7-(4-chlorobenzoyl)-3-(3-methacrylamidophenyl)-1-oxa-2,7-diazaspiro[4.4]non-2-ene-8-carboxamideIC501540 nM
MLS000686315IC501610 nM
1,3,6-Trimethyl-1H-pyrimido[5,4-e][1,2,4]triazine-5,7-dioneEC501610 nM
4-[[(4E)-1-keto-4-mesitylsulfonylimino-2-naphthyl]amino]benzoic acidIC501680 nM
1-Decyloxycarbonylmethyl-3-methyl-2-p-tolyloxymethyl-3H-benzoimidazol-1-iumEC501800 nM
MLS000590906IC501800 nM
1H-Benzo(a)carbazole-1,4-dione, 8,11-dimethyl-EC501830 nM
cid_2851959IC501840 nM
3-phenyl-9,10-phenanthrenedioneIC502000 nM
(2R,3R)-1-N,3-dimethyl-2-N-[(2R)-3-naphthalen-1-yl-2-[2-[3-(trifluoromethyl)phenyl]ethylamino]propyl]pentane-1,2-diamineEC502030 nM
6-(4-bromophenyl)-2-(methylsulfonyl)-4-phenylnicotinonitrileIC502070 nM
cid_367783IC502080 nM
4-piperidin-1-ylnaphthalene-1,2-dioneIC502120 nM
SMR000558842IC502120 nM
(NE)-N-[3-[(4-hydroxyphenyl)amino]-4-oxidanylidene-naphthalen-1-ylidene]-4-methyl-benzenesulfonamideIC502140 nM
(5Z)-3-(3-chlorophenyl)-5-(4-hydroxy-3-methoxy-5-nitro-benzylidene)thiazolidine-2,4-quinoneIC502210 nM

ChEMBL bioactivities

197 potent at pChembl≥5 of 533 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
7.43IC5037.5nMCHEMBL601757
7.24IC5057.2nMCHEMBL599924
7.10IC5079nMCHEMBL1463659
6.74IC50181nMCHEMBL1583199
6.50IC50316nMCHEMBL1498509
6.47IC50335nMCHEMBL3189714
6.39IC50411nMCHEMBL3192555
6.36IC50441nMCHEMBL3191855
6.35IC50443nMCHEMBL1531324
6.34IC50453nMCHEMBL3196451
6.26IC50549nM9,10-PHENANTHRENEQUINONE
6.15IC50707nMCHEMBL1864348
6.12IC50768nMCHEMBL417727
6.10IC50797nMCHEMBL1522827
6.10IC50798nMCHEMBL1407514
6.00IC501010nMCHEMBL1432707
5.99IC501030nMCHEMBL3196591
5.96IC501100nMCHEMBL1888528
5.94EC501160nMCHEMBL1533230
5.93EC501170nMCHEMBL1301673
5.91EC501240nMCHEMBL1368108
5.91IC501220nMCHEMBL1434767
5.90IC501270nMCHEMBL1454614
5.88IC501310nMCHEMBL1498652
5.86IC501380nMCHEMBL171632
5.84EC501450nMCHEMBL1386120
5.83IC501480nMCHEMBL1996724
5.82IC501510nMCHEMBL1719244
5.80IC501590nMCHEMBL1999630
5.78IC501660nMCHEMBL1494979
5.77EC501690nMCHEMBL1360585
5.75IC501800nMCHEMBL1430635
5.74IC501820nMCHEMBL3195749
5.74IC501840nMCHEMBL1898479
5.73IC501850nMCHEMBL2006503
5.71IC501940nMCHEMBL1380131
5.71IC501970nMCHEMBL1987894
5.68IC502070nMCHEMBL1328473
5.68IC502080nMCHEMBL175434
5.68IC502100nMCHEMBL1417929
5.67IC502120nMCHEMBL1409039
5.67IC502140nMCHEMBL1593286
5.67IC502120nMCHEMBL1395907
5.65EC502250nMCHEMBL1410186
5.65IC502230nMCHEMBL299853
5.63EC502350nMCHEMBL1542453
5.63IC502360nMCHEMBL3193011
5.60IC502500nMCHEMBL1707033
5.59IC502550nMCHEMBL1577193
5.59IC502560nMCHEMBL1872457

CTD chemical–gene interactions

178 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression, increases expression, decreases reaction, affects cotreatment5
Benzo(a)pyreneincreases expression, decreases expression, affects cotreatment5
Estradiolincreases expression, affects cotreatment, decreases expression, affects expression5
Quercetinaffects cotreatment, increases expression, decreases expression5
Doxorubicinincreases expression, increases reaction, decreases reaction4
Resveratroldecreases expression, increases expression3
Decitabineincreases expression, affects reaction, affects expression3
Arsenic Trioxideincreases expression, affects cotreatment3
Glyphosatedecreases expression, increases expression3
Arsenicaffects reaction, increases expression, affects cotreatment, decreases expression, increases abundance3
Cannabidiolaffects cotreatment, decreases expression, increases expression3
Goldaffects binding, affects cotreatment, increases expression, decreases expression3
naringeninaffects cotreatment, increases expression2
2-methyl-4-isothiazolin-3-oneincreases expression2
cypermethrinincreases expression2
3,4,5,4’-tetramethoxystilbeneincreases expression2
(+)-JQ1 compoundaffects cotreatment, decreases expression, increases expression2
Acetylcysteinedecreases expression, decreases reaction, increases expression2
Air Pollutantsincreases abundance, increases expression, decreases expression2
Cisplatinincreases activity, increases response to substance, affects cotreatment, increases expression2
Copperaffects binding, increases expression, affects localization, increases activity, increases metabolic processing (+1 more)2
Deferoxamineaffects cotreatment, decreases reaction, increases expression2
Ellagic Acidincreases expression, decreases expression2
Endosulfandecreases expression, increases expression2
Fluorouracilaffects expression, increases expression2
Methotrexateincreases expression2
Paraquatdecreases expression, increases expression, affects splicing2
Tretinoinincreases expression2
Aflatoxin B1increases expression2
Paclitaxelaffects cotreatment, increases expression2

ChEMBL screening assays

10 unique, capped per target: 8 functional, 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1794304FunctionalPUBCHEM_BIOASSAY: Dose Response validation of Activators of Apaf-1 using a Fluorescent Interference Counterscreen assay. (Class of assay: confirmatory) [Related pubchem assays (depositor defined):AID489031, AID492946]PubChem BioAssay data set
CHEMBL2395461BindingBinding affinity to Apaf1 (unknown origin) assessed as inhibition of procaspase-9 activityOptimizing the control of apoptosis by amide/triazole isosteric substitution in a constrained peptoid. — Eur J Med Chem

Cellosaurus cell lines

7 cell lines: 7 cancer cell line

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

CellosaurusNameCategorySex
CVCL_C7D4Abcam A-549 APAF1 KOCancer cell lineMale
CVCL_C7DUAbcam HCT 116 APAF1 KOCancer cell lineMale
CVCL_C7EIAbcam THP-1 APAF1 KOCancer cell lineMale
CVCL_SC87HAP1 APAF1 (-) 1Cancer cell lineMale
CVCL_SC88HAP1 APAF1 (-) 2Cancer cell lineMale
CVCL_SC89HAP1 APAF1 (-) 3Cancer cell lineMale
CVCL_SC90HAP1 APAF1 (-) 4Cancer cell lineMale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00000378PHASE4COMPLETEDAntidepressant Treatment of Melancholia in Late Life
NCT00004554PHASE4COMPLETEDSertraline for Alcohol Dependence and Depression
NCT00006180PHASE4COMPLETEDBone Loss in Premenopausal Women With Depression
NCT00006204PHASE4COMPLETEDDrug Treatment for Depressed Alcoholics (Naltrexone/Fluoxetine)
NCT00009191PHASE4COMPLETEDThe Depression in Alzheimer’s Disease Study (DIADS)
NCT00018759PHASE4COMPLETEDTreatment Effects on Platelet Calcium in Hypertensive and Depressed Patients
NCT00018824PHASE4COMPLETEDTreating Alcohol Use In Older Adults With Depression
NCT00021528PHASE4COMPLETEDSequenced Treatment Alternatives to Relieve Depression (STAR*D)
NCT00029172PHASE4COMPLETEDTreatment for Post-Stroke Depression
NCT00030147PHASE4COMPLETEDRaloxifene and Rimostil for Perimenopause-Related Depression
NCT00034801PHASE4COMPLETEDOlanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00044616PHASE4COMPLETEDRelapse Prevention for Bipolar Type-II Disorder
NCT00045916PHASE4COMPLETEDOptimizing Electroconvulsive Therapy for Depression
NCT00047671PHASE4COMPLETEDEthnic Variations in Antidepressant Response
NCT00055328PHASE4COMPLETEDTreatment for Depression in the Primary Care Setting
NCT00057551PHASE4COMPLETEDResearch Evaluating the Value of Augmenting Medication With Psychotherapy
NCT00057577PHASE4COMPLETEDPrevention of Recurrence in Depression With Drugs and CT
NCT00067912PHASE4COMPLETEDDuloxetine vs. Active Comparator for the Treatment of Depression
NCT00071695PHASE4COMPLETEDDuloxetine vs. Active Comparator in the Treatment of Patients With Depression
NCT00073697PHASE4COMPLETEDTreatment of Depression in Adults
NCT00106197PHASE4UNKNOWNHormone and Sleep Response to Antidepressant Treatment in Adolescents and Adults With Depression
NCT00108563PHASE4COMPLETEDVISN 20: Prophylactic Treatment of Interferon-Induced Depression in Hepatitis C Patients
NCT00118430PHASE4COMPLETEDStepped Care for Depression and Musculoskeletal Pain
NCT00130455PHASE4TERMINATEDTreatment of Depression in the Elderly
NCT00140257PHASE4UNKNOWNDECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome
NCT00145132PHASE4COMPLETEDBeta-CIT-SPECT and Neurophysiology in Depression
NCT00146237PHASE4COMPLETEDPhenytoin as an Augmentation for SSRI Failures
NCT00151294PHASE4TERMINATEDThe Efficacy and Safety of Escitalopram for Depression in Multiple Sclerosis
NCT00152776PHASE4COMPLETEDTreating Climacteric Symptoms With a Complex Homeopathic Remedy
NCT00159809PHASE4COMPLETEDEfficacy Study Measuring The Impact Of Treatment With Viagra On The Depressive Symptoms Of Men With Erectile Dysfunction
NCT00159965PHASE4COMPLETEDTreatments for Psychogenic Nonepileptic Seizures (NES)
NCT00162916PHASE4UNKNOWNAntidepressant Maintenance in Traumatic Brain Injury
NCT00177294PHASE4COMPLETEDAugmenting Antidepressant Treatment With Interpersonal Psychotherapy for Treating Late-life Depression
NCT00177424PHASE4TERMINATEDSertraline for Preventing Post-stroke Depression and Improving Rehabilitation Outcomes
NCT00177528PHASE4COMPLETEDSafety and Efficacy of Venlafaxine XR in Elderly Patients With Major Depression
NCT00177671PHASE4COMPLETEDAntidepressant Medication Plus Donepezil for Treating Late-life Depression
NCT00178035PHASE4COMPLETEDSleep Deprivation Plus Paroxetine for Treating Major Depression in Elderly Individuals
NCT00178048PHASE4COMPLETEDParoxetine in the Treatment of Chronic Primary Insomnia
NCT00178828PHASE4COMPLETEDDynamic Measures of Neurochemistry in Mood Disorders
NCT00181896PHASE4TERMINATEDBupropion SR for Major Depression and Depression NOS in Children and Adolescents With Bipolar Disorder

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 79

This page pulls from 79 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot