ERCC6

Summary

ERCC6 (ERCC excision repair 6, chromatin remodeling factor, HGNC:3438) is a protein-coding gene on chromosome 10q11.23, encoding Chimeric ERCC6-PGBD3 protein (P0DP91). Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6.

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3’ splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene.

Source: NCBI Gene 2074 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Cockayne spectrum with or without cerebrooculofacioskeletal syndrome (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 2,066 total — 174 pathogenic, 147 likely-pathogenic
• Phenotypes (HPO): 258
• MANE Select transcript: NM_000124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3438
Approved symbol	ERCC6
Name	ERCC excision repair 6, chromatin remodeling factor
Location	10q11.23
Locus type	gene with protein product
Status	Approved
Aliases	CSB, RAD26, ARMD5
Ensembl gene	ENSG00000225830
Ensembl biotype	protein_coding
OMIM	609413
Entrez	2074

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 8 protein_coding, 7 protein_coding_CDS_not_defined, 6 retained_intron, 2 nonsense_mediated_decay

ENST00000355832, ENST00000447839, ENST00000462247, ENST00000465653, ENST00000475116, ENST00000479652, ENST00000515869, ENST00000623073, ENST00000623115, ENST00000623318, ENST00000623788, ENST00000624341, ENST00000679552, ENST00000679596, ENST00000679811, ENST00000679871, ENST00000679974, ENST00000680107, ENST00000680233, ENST00000681632, ENST00000681659, ENST00000898255, ENST00000898256

RefSeq mRNA: 4 — MANE Select: NM_000124 NM_000124, NM_001277058, NM_001277059, NM_001346440

CCDS: CCDS60529, CCDS7229

Canonical transcript exons

ENST00000355832 — 21 exons

Exon	Start	End
ENSE00000703163	49470182	49470889
ENSE00000703168	49460373	49460451
ENSE00000905761	49476215	49476310
ENSE00000905767	49505884	49506012
ENSE00001880273	49454470	49459234
ENSE00001915085	49538962	49539121
ENSE00002435821	49470975	49471120
ENSE00002469498	49472909	49473028
ENSE00002471982	49478354	49478470
ENSE00002492303	49472376	49472470
ENSE00002514316	49482687	49482863
ENSE00002515240	49473477	49473587
ENSE00002521603	49474027	49474242
ENSE00002536090	49493117	49493252
ENSE00003510309	49461352	49461556
ENSE00003630404	49500538	49500696
ENSE00003632286	49483346	49483516
ENSE00003796219	49530720	49530840
ENSE00003796710	49532543	49532978
ENSE00003800359	49528417	49528525
ENSE00003801195	49524033	49524777

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 88.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5590 / max 243.4991, expressed in 1796 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109333	12.4364	1785
109335	3.6333	1316
109334	0.4893	246

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	88.25	gold quality
secondary oocyte	CL:0000655	87.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.02	gold quality
calcaneal tendon	UBERON:0003701	84.87	gold quality
sural nerve	UBERON:0015488	84.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.93	gold quality
vena cava	UBERON:0004087	83.17	gold quality
tonsil	UBERON:0002372	83.14	gold quality
corpus callosum	UBERON:0002336	82.84	gold quality
stromal cell of endometrium	CL:0002255	82.59	gold quality
ascending aorta	UBERON:0001496	82.36	gold quality
thoracic aorta	UBERON:0001515	82.26	gold quality
esophagus squamous epithelium	UBERON:0006920	81.73	gold quality
tendon	UBERON:0000043	81.70	gold quality
adrenal tissue	UBERON:0018303	81.48	gold quality
gingival epithelium	UBERON:0001949	81.38	silver quality
descending thoracic aorta	UBERON:0002345	81.04	gold quality
islet of Langerhans	UBERON:0000006	80.28	gold quality
right coronary artery	UBERON:0001625	80.12	gold quality
skin of leg	UBERON:0001511	80.00	gold quality
skin of abdomen	UBERON:0001416	79.96	gold quality
ganglionic eminence	UBERON:0004023	79.93	gold quality
cortical plate	UBERON:0005343	79.93	gold quality
pharyngeal mucosa	UBERON:0000355	79.73	gold quality
aorta	UBERON:0000947	79.59	gold quality
colonic epithelium	UBERON:0000397	79.42	gold quality
vagina	UBERON:0000996	78.90	gold quality
esophagus mucosa	UBERON:0002469	78.89	gold quality
medial globus pallidus	UBERON:0002477	78.51	gold quality
gingiva	UBERON:0001828	78.47	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.01
E-GEOD-99795	no	82.39

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
BST2	Activation
IFIH1	Activation
IRF9	Activation
RIGI	Activation
STAT1	Activation
STAT2	Activation

Upstream regulators (CollecTRI, top): CEBPB, HIF1A

miRNA regulators (miRDB)

196 targeting ERCC6, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-186-5P	99.99	70.83	3707
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784

Literature-anchored findings (GeneRIF, showing 40)

• differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells (PMID:11809892)
• CSB is involved in cellular repair of 8-hydroxyadenine in DNA. (PMID:12060667)
• Cockayne syndrome B protein(ERCC6) enhanced germ cell proliferation arrest and apoptosis, and increased embryonic lethality, suggesting its role in nucleotide excision repair. (PMID:12095617)
• CSB is a component of RNA pol I transcription (PMID:12419226)
• CS-B mutant cell lines had deficient transcription after oxidative stress. The CSB protein influenced the transcriptional regulation of certain genes. The ATPase function of CSB is biologically important as the ATPase mutants resemble the CS-B-null ones. (PMID:12606941)
• DNA damage stabilizes interaction of CSB with the transcription elongation machinery (PMID:15226310)
• no mutation in the CSB cDNA and a normal amount of CSB protein was detected in Kps3, a UV sensitive (UVsS) cell line obtained from an unrelated patient, indicating genetic heterogeneity in UVsS (PMID:15486090)
• CSB binds DNA as a dimer: DNA wrapping and unwrapping allows CSB to actively alter the DNA double helix conformation, which could influence nucleosomes and other protein-DNA interactions (PMID:15548521)
• results implicate CSB in the PARP-1 poly(ADP-ribosyl)ation response after oxidative stress and thus suggest a novel role of CSB in the cellular response to oxidative damage (PMID:16107709)
• enzymatically active CSB has an apparent molecular mass of approximately 360 kDa, consistent with dimerization of CSB (PMID:16128801)
• The Mutation of Cockayne Syndrome Group B can cause defective transcription-coupled repair and Cockayne syndrome . (PMID:16246722)
• Data highlight the pivotal role of CSB in initiating the transcriptional program of certain genes after UV irradiation, and also may explain some of the complex traits of Cockayne syndrome patients. (PMID:16601682)
• examines functional relationship between CSA and CSB in Cockayne syndrome (PMID:16751180)
• Results describe age-related macular degeneration (AMD) genetic risk factors through identification of polymorphisms in ERCC6 and in complement factor H. (PMID:16754848)
• indicate a general role for Cockayne syndrome group B protein (CSB) protein in maintenance and remodeling of chromatin structure and suggest that CS is a disease of transcriptional deregulation caused by misexpression of growth-suppressive (PMID:16772382)
• Purified recombinant Cockayne syndrome B protein and the major human apurinic/apyrimidinic endonuclease, APE1, physically and functionally interact. (PMID:17567611)
• The results reveal the mechanism underlying CSB-mediated activation of ribosomal DNA transcription and link G9a-dependent histone methylation to Pol I transcription elongation through chromatin. (PMID:17707230)
• ERCC6 rs3793784:C>G alters its transcriptional activity and may confer personalized susceptibility to lung cancer. (PMID:17854076)
• SNPs associated with prognosis of lung cancer was mapped to ERCC6. (PMID:17855454)
• results firstly suggest that the heterozygous and homozygous A allele of the ERCC6 codon 399 may be associated with the development of oral cancer and may be a novel useful marker for primary prevention and anticancer intervention. (PMID:17933579)
• CSB is not required for the ubiquitylation of human RNA polymerase II. (PMID:17996703)
• Genomic DNA sequencing of the CSB gene showed a homozygous deletion involving non-coding exon 1 and upstream regulatory sequences, but none of the coding exons (PMID:18183039)
• a null mutation in the CSB gene may have a role in adult-onset neurological degeneration in a patient with Cockayne syndrome (PMID:18185538)
• a domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3’ terminal exon (PMID:18369450)
• a novel insertion mutation, c.1034-1035insT in exon 5 of the ERCC6 gene was identified (PMID:18446857)
• Description of three additional cases of Cerebro-oculo-facio-skeletal syndrome with novel mutations in the CSB gene. (PMID:18628313)
• Data show that truncated Cockayne syndrome B protein represses elongation by RNA polymerase I. (PMID:18656484)
• Data show that CSB mutant cells are unable to react to hypoxic stimuli by properly activating the hypoxia-inducible factor-1 (HIF-1) pathway, a defect that is further enhanced in the event of a concomitant genotoxic stress. (PMID:18784753)
• Genetic polymorphisms of the ERCC6 gene and its role in smoking related lung cancer was studied. (PMID:18789574)
• Somatic mutation of ERCC6 is rare in common human cancers in the Korean population. (PMID:19132999)
• CSB plays a role in repair of formamidopyrimidines, possibly by interacting with and stimulating NEIL1 (PMID:19179336)
• The CSB protein functions as a master switch factor that can selectively influence the transcription of specific sets of genes, after DNA damage or hypoxia, by influencing the biological functions of Tumor Suppressor Protein p53. (PMID:19221478)
• Genetic polymorphisms in ERCC6 is associated with Laryngeal cancer risk associated with smoking and alcohol consumption. (PMID:19444904)
• These results suggest that HNE-DNA adducts are extremely toxic endogenous DNA lesion, and that their processing involves CSB (PMID:19481676)
• Results describe the ATP-dependent and the ATP-independent biochemical functions of human Cockayne syndrome group B protein (CSB), and show that calcium is a novel metal cofactor of CSB for ATP hydrolysis. (PMID:19580815)
• The 45 published mutations in CSA and CSB to date and 43 new mutations in these genes together with the corresponding clinical data, are reported. (PMID:19894250)
• ERCC6 single nucleotide polymorphism is associated with bladder cancer susceptibility. (PMID:20044625)
• role in protect from aging- and stress-induced mtDNA mutations and apoptosis-mediated loss of subcutaneous fat, a hallmark of aging (PMID:20100872)
• The N-terminal region of CSB negatively regulates chromatin association during normal cell growth. (PMID:20122405)
• CSB plays a direct role in mitochondrial base excision repair (BER) by helping recruit, stabilize, and/or retain BER proteins in repair complexes associated with the inner mitochondrial membrane (PMID:20181933)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ercc6	ENSDARG00000075612
mus_musculus	Ercc6	ENSMUSG00000054051
rattus_norvegicus	Ercc6	ENSRNOG00000030017

Paralogs (30): HLTF (ENSG00000071794), SMARCA2 (ENSG00000080503), SRCAP (ENSG00000080603), ATRX (ENSG00000085224), RAD54L (ENSG00000085999), BTAF1 (ENSG00000095564), CHD8 (ENSG00000100888), SMARCA1 (ENSG00000102038), CHD4 (ENSG00000111642), CHD5 (ENSG00000116254), TTF2 (ENSG00000116830), HELLS (ENSG00000119969), ZRANB3 (ENSG00000121988), CHD6 (ENSG00000124177), SMARCA4 (ENSG00000127616), INO80 (ENSG00000128908), CHD1L (ENSG00000131778), SMARCAL1 (ENSG00000138375), SHPRH (ENSG00000146414), SMARCA5 (ENSG00000153147), CHD1 (ENSG00000153922), SMARCAD1 (ENSG00000163104), RAD54L2 (ENSG00000164080), CHD3 (ENSG00000170004), CHD7 (ENSG00000171316), CHD2 (ENSG00000173575), CHD9 (ENSG00000177200), EP400 (ENSG00000183495), ERCC6L (ENSG00000186871), RAD54B (ENSG00000197275)

Protein

Protein identifiers

Chimeric ERCC6-PGBD3 protein — P0DP91 (reviewed: P0DP91, Q03468)

Alternative names: Chimeric CSB-PGBD3 protein

All UniProt accessions (7): A0A096LNQ7, A0A7P0T7Y4, A0A7P0T9G4, A0A7P0TA32, D6R9X7, P0DP91, Q03468

UniProt curated annotations — full annotation on UniProt →

Function. Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF.

Subcellular location. Nucleus.

Tissue specificity. Expressed in heart and oocytes, but not in granulosa cells (at protein level).

Disease relevance. Premature ovarian failure 11 (POF11) [MIM:616946] An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The protein represented in this entry is involved in disease pathogenesis. Disease-causing variants affect isoform CSB-PGBD3, which is a chimeric protein between ERCC6 N-terminus and the entire PGBD3 sequence.

Miscellaneous. Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence.

Isoforms (3)

UniProt ID	Names	Canonical?
P0DP91-1	CSB-PGBD3	yes
Q03468-1	CSB
Q8N328-1	PGBD3

RefSeq proteins (4): NP_000115, NP_001263987, NP_001263988, NP_001333369 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029526	PGBD	Domain
IPR052638	PiggyBac_TE-derived	Family
IPR059240	CC_ERCC-6_N	Domain
IPR000330	SNF2_N	Domain
IPR001650	Helicase_C-like	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR038718	SNF2-like_sf	Homologous_superfamily
IPR049730	SNF2/RAD54-like_C	Domain
IPR050496	SNF2_RAD54_helicase_repair	Family
IPR058951	WHD_Rad26_CSB-like	Domain

Pfam: PF00176, PF00271, PF13843, PF25875

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (170 total): sequence variant 37, helix 36, strand 21, modified residue 16, region of interest 15, compositionally biased region 15, mutagenesis site 14, turn 5, cross-link 3, chain 2, domain 2, short sequence motif 2, sequence conflict 1, binding site 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
4CVO	X-RAY DIFFRACTION	1.85
9BZ0	ELECTRON MICROSCOPY	1.9
8B3D	ELECTRON MICROSCOPY	2.6
7OOB	ELECTRON MICROSCOPY	2.7
7OO3	ELECTRON MICROSCOPY	2.8
7OOP	ELECTRON MICROSCOPY	2.9
7OPC	ELECTRON MICROSCOPY	3
7OPD	ELECTRON MICROSCOPY	3
8B3F	ELECTRON MICROSCOPY	3.1
9ER2	ELECTRON MICROSCOPY	3.3
9FD2	ELECTRON MICROSCOPY	3.4
9HWG	ELECTRON MICROSCOPY	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DP91-F1	70.12	0.32
AF-Q03468-F1	61.81	0.11

Functional residue map

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

P0DP91 (canonical)

Post-translational modifications (5): 158, 429, 430, 554, 255

Q03468

Ligand- & substrate-binding residues (1): 532–539

Post-translational modifications (14): 10, 158, 170, 297, 429, 430, 448, 486, 489, 1054, 1142, 1348, 205, 255

Mutagenesis-validated functional residues (14):

Position	Phenotype
10	non-phosphorylatable by atm. loss of chromatin remodeling activity and its ability to promote the intramolecular interac
10	phosphomimetic mutant. no loss of chromatin remodeling activity and its ability to promote the intramolecular interactio
158	non-phosphorylatable by cdk2. loss of chromatin remodeling activity and its ability to promote the intramolecular intera
158	phosphomimetic mutant. no loss of chromatin remodeling activity and its ability to promote the intramolecular interactio
205	loss of sumoylation and defects in transcription-coupled nucleotide excision repair.
538	abolished atpase activity without abolishing ability to promote transcription-coupled nucleotide excision repair (tc-ner
1385–1399	abolished interaction with ercc8/csa and ercc8/csa recruitmentto dna damage sites.
1427–1428	fails to bind polyubiquitin chains.
1457	no loss of sumoylation; when associated with r-1487 and r-1489.
1470	loss of interaction with rif1; when associated with g-1486 and g-1488.
1486	loss of interaction with rif1; when associated with g-1470 and g-1488.
1487	no loss of sumoylation; when associated with r-1457 and r-1489. no loss of sumoylation; when associated with r-1489.
1488	loss of interaction with rif1; when associated with g-1470 and g-1486.
1489	no loss of sumoylation; when associated with r-1457 and r-1487. no loss of sumoylation; when associated with r-1487.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-427389	ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924	B-WICH complex positively regulates rRNA expression
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135	Dual incision in TC-NER
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-73762	RNA Polymerase I Transcription Initiation

MSigDB gene sets: 784 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, GOBP_PEPTIDYL_SERINE_MODIFICATION, REACTOME_RNA_POLYMERASE_I_TRANSCRIPTION_INITIATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_GROWTH, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION

GO Biological Process (42): positive regulation of defense response to virus by host (GO:0002230), positive regulation of gene expression (GO:0010628), positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141), positive regulation of DNA repair (GO:0045739), single strand break repair (GO:0000012), DNA damage checkpoint signaling (GO:0000077), response to superoxide (GO:0000303), DNA repair (GO:0006281), transcription-coupled nucleotide-excision repair (GO:0006283), base-excision repair (GO:0006284), pyrimidine dimer repair (GO:0006290), chromatin remodeling (GO:0006338), transcription elongation by RNA polymerase I (GO:0006362), transcription by RNA polymerase II (GO:0006366), response to oxidative stress (GO:0006979), JNK cascade (GO:0007254), intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), response to toxic substance (GO:0009636), response to X-ray (GO:0010165), response to UV-B (GO:0010224), response to gamma radiation (GO:0010332), neurogenesis (GO:0022008), neuron differentiation (GO:0030182), neuron projection development (GO:0031175), regulation of DNA-templated transcription elongation (GO:0032784), positive regulation of DNA-templated transcription, elongation (GO:0032786), regulation of transcription elongation by RNA polymerase II (GO:0034243), multicellular organism growth (GO:0035264), DNA protection (GO:0042262), photoreceptor cell maintenance (GO:0045494), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of transcription by RNA polymerase III (GO:0045945), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), protein localization to chromatin (GO:0071168), double-strand break repair via classical nonhomologous end joining (GO:0097680), positive regulation of double-strand break repair via homologous recombination (GO:1905168), negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033), DNA damage response (GO:0006974), nervous system development (GO:0007399)

GO Molecular Function (15): sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), chromatin binding (GO:0003682), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP-dependent activity, acting on DNA (GO:0008094), ATP hydrolysis activity (GO:0016887), protein tyrosine kinase activator activity (GO:0030296), RNA polymerase binding (GO:0070063), chromatin-protein adaptor activity (GO:0140463), ATP-dependent chromatin remodeler activity (GO:0140658), ATP-dependent DNA damage sensor activity (GO:0140664), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (8): nucleoplasm (GO:0005654), nuclear body (GO:0016604), nucleus (GO:0005634), nucleolus (GO:0005730), transcription elongation factor complex (GO:0008023), site of DNA damage (GO:0090734), B-WICH complex (GO:0110016), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	3
Positive epigenetic regulation of rRNA expression	2
Nucleotide Excision Repair	1
RNA Polymerase I Promoter Clearance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA repair	4
ATP-dependent activity	3
intracellular membraneless organelle	3
DNA damage response	2
chromatin organization	2
DNA binding	2
binding	2
ATP-dependent activity, acting on DNA	2
nuclear lumen	2
cellular anatomical structure	2
nucleoplasm	2
regulation of defense response to virus by host	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
positive regulation of peptidyl-serine phosphorylation	1
regulation of peptidyl-serine phosphorylation of STAT protein	1
serine phosphorylation of STAT protein	1
regulation of DNA repair	1
positive regulation of response to stimulus	1
positive regulation of DNA metabolic process	1
DNA integrity checkpoint signaling	1
signal transduction in response to DNA damage	1
response to oxygen radical	1
DNA metabolic process	1
nucleotide-excision repair	1
DNA-templated transcription elongation	1
transcription by RNA polymerase I	1
DNA-templated transcription	1
response to stress	1
MAPK cascade	1
intrinsic apoptotic signaling pathway	1
response to chemical	1
response to ionizing radiation	1
response to UV	1
nucleic acid binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

13 interactions, top by confidence:

A	B	Type	Score
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CSNK2B	OSBPL8	psi-mi:“MI:0914”(association)	0.350
PNMA2	TARS3	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
MPL	FAM171A2	psi-mi:“MI:0914”(association)	0.350
HNRNPC	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
SUPV3L1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
ZC3H11A	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
ZRANB2	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
DDX6	RPSA2	psi-mi:“MI:2364”(proximity)	0.270

ESM2 similar proteins: A0A345BJN7, A0A7H0DN82, B6EU02, O13033, O45595, O93182, P03347, P03348, P03975, P04592, P04593, P05887, P05890, P05892, P0C798, P0C799, P0DP91, P12450, P12495, P13784, P18800, P19199, P27978, P34470, P35962, P40083, P40847, P69730, P69731, P69732, Q02271, Q23243, Q28C26, Q2HEW5, Q54CZ6, Q5EA92, Q5FVK8, Q67708, Q6DRC3, Q6EWG9

Diamond homologs: A0A0P0WGX7, A2A8L1, A2BGR3, A3KFM7, A3KMX0, A4PBL4, A6QQR4, A7Z019, A9X4T1, B0XPE7, B3MMA5, B3NAN8, B4JCS7, B4KHL5, B4M9A8, B4MX21, B4NXB8, B5BT18, B6ZLK2, D3ZA12, D3ZD32, E1B7X9, E7F1C4, E9PZM4, F1Q8K0, F4I2H2, F4IHS2, F4IV45, F4J9M5, F4JY24, F4K128, F4KBP5, F8VPZ5, G5EF53, O12944, O14139, O14646, O14647, O14981, O16102

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ABL1	“up-regulates activity”	ERCC6	phosphorylation

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

2066 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	174
Likely pathogenic	147
Uncertain significance	610
Likely benign	862
Benign	80

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1034077	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	Pathogenic
1068519	NM_000124.4(ERCC6):c.537dup (p.Asn180Ter)	Pathogenic
1070424	NM_000124.4(ERCC6):c.1412_1413del (p.Leu471fs)	Pathogenic
1070425	NM_000124.4(ERCC6):c.1690G>T (p.Glu564Ter)	Pathogenic
1071564	NM_000124.4(ERCC6):c.1499del (p.Pro500fs)	Pathogenic
1072162	NC_000010.11:g.49459235del	Pathogenic
1072519	NM_000124.4(ERCC6):c.3522_3523delinsTT (p.Met1174_Glu1175delinsIleTer)	Pathogenic
1073494	NM_000124.4(ERCC6):c.4060C>T (p.Gln1354Ter)	Pathogenic
1074052	NM_000124.4(ERCC6):c.1750_1751insT (p.Glu584fs)	Pathogenic
1074056	NM_000124.4(ERCC6):c.2286+1G>T	Pathogenic
1075573	NM_000124.4(ERCC6):c.3371del (p.Ser1124fs)	Pathogenic
1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	Pathogenic
1256026	NM_001277058.2(ERCC6):c.3100G>T (p.Glu1034Ter)	Pathogenic
1356734	NM_000124.4(ERCC6):c.4037C>G (p.Ser1346Ter)	Pathogenic
1362604	NM_000124.4(ERCC6):c.55C>T (p.Gln19Ter)	Pathogenic
1384450	NM_000124.4(ERCC6):c.3564_3565del (p.His1188fs)	Pathogenic
1403796	NM_000124.4(ERCC6):c.2857C>T (p.Gln953Ter)	Pathogenic
1404986	NM_000124.4(ERCC6):c.3052del (p.Thr1018fs)	Pathogenic
1409508	NM_000124.4(ERCC6):c.304C>T (p.Gln102Ter)	Pathogenic
1411859	NM_000124.4(ERCC6):c.2951del (p.Asn984fs)	Pathogenic
1416690	NM_000124.4(ERCC6):c.2776del (p.Ala926fs)	Pathogenic
1420712	NM_000124.4(ERCC6):c.3335del (p.Asn1112fs)	Pathogenic
143186	NM_000124.4(ERCC6):c.543+4del	Pathogenic
1433939	NM_000124.4(ERCC6):c.1066G>T (p.Glu356Ter)	Pathogenic
1443341	NM_000124.4(ERCC6):c.445C>T (p.Gln149Ter)	Pathogenic
1452371	NM_000124.4(ERCC6):c.2066_2067del (p.Leu688_Phe689insTer)	Pathogenic
1452599	NM_000124.4(ERCC6):c.3520del (p.Met1174fs)	Pathogenic
1453778	NM_000124.4(ERCC6):c.3040C>T (p.Gln1014Ter)	Pathogenic
1453999	NM_000124.4(ERCC6):c.3464dup (p.Tyr1155Ter)	Pathogenic
1454137	NM_000124.4(ERCC6):c.1258C>T (p.Gln420Ter)	Pathogenic

SpliceAI

3773 predictions. Top by Δscore:

Variant	Effect	Δscore
10:49461346:TCTTA:T	donor_loss	1.0000
10:49461347:CTTA:C	donor_loss	1.0000
10:49461348:TTAC:T	donor_loss	1.0000
10:49461349:TACTT:T	donor_loss	1.0000
10:49461350:A:AC	donor_gain	1.0000
10:49461350:ACTTT:A	donor_loss	1.0000
10:49461351:C:CC	donor_gain	1.0000
10:49461351:CT:C	donor_gain	1.0000
10:49461351:CTT:C	donor_gain	1.0000
10:49461552:GCCAA:G	acceptor_gain	1.0000
10:49461553:CCAA:C	acceptor_gain	1.0000
10:49461553:CCAAC:C	acceptor_gain	1.0000
10:49461554:CAA:C	acceptor_gain	1.0000
10:49461554:CAAC:C	acceptor_gain	1.0000
10:49461555:AA:A	acceptor_gain	1.0000
10:49461557:C:CC	acceptor_gain	1.0000
10:49461561:C:CT	acceptor_gain	1.0000
10:49461562:A:T	acceptor_gain	1.0000
10:49470176:GATTA:G	donor_loss	1.0000
10:49470177:ATTAC:A	donor_loss	1.0000
10:49470178:TTA:T	donor_loss	1.0000
10:49470179:TACCT:T	donor_loss	1.0000
10:49470180:A:C	donor_loss	1.0000
10:49470885:AGTTC:A	acceptor_gain	1.0000
10:49470886:GTTC:G	acceptor_gain	1.0000
10:49470887:TTC:T	acceptor_gain	1.0000
10:49470888:TC:T	acceptor_gain	1.0000
10:49470889:CC:C	acceptor_gain	1.0000
10:49470890:C:CC	acceptor_gain	1.0000
10:49471121:C:CC	acceptor_gain	1.0000

AlphaMissense

9834 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:49472932:A:G	W936R	1.000
10:49472932:A:T	W936R	1.000
10:49482800:A:G	W686R	1.000
10:49482800:A:T	W686R	1.000
10:49493197:A:G	W581R	1.000
10:49493197:A:T	W581R	1.000
10:49458841:A:G	W1486R	0.999
10:49458841:A:T	W1486R	0.999
10:49472376:C:G	R975P	0.999
10:49472450:T:A	R950S	0.999
10:49472450:T:G	R950S	0.999
10:49472451:C:G	R950T	0.999
10:49472455:A:G	W949R	0.999
10:49472455:A:T	W949R	0.999
10:49472460:C:G	R947P	0.999
10:49472952:A:T	V929D	0.999
10:49478415:A:G	L742P	0.999
10:49478427:A:T	I738K	0.999
10:49478436:C:G	R735P	0.999
10:49478439:A:G	L734S	0.999
10:49478460:G:T	A727D	0.999
10:49482724:A:T	I711N	0.999
10:49482748:A:G	F703S	0.999
10:49482766:A:G	L697S	0.999
10:49482802:A:G	L685P	0.999
10:49483383:C:G	R652P	0.999
10:49483395:C:T	G648E	0.999
10:49483396:C:G	G648R	0.999
10:49483396:C:T	G648R	0.999
10:49483398:T:A	E647V	0.999

dbSNP variants (sampled 300 via entrez): RS1000027546 (10:49474397 G>A), RS1000045194 (10:49493035 A>G), RS1000056717 (10:49460116 T>C), RS1000098334 (10:49494883 A>T), RS1000137316 (10:49526309 A>G), RS1000145050 (10:49435951 G>A), RS1000162635 (10:49482353 T>C), RS1000212995 (10:49482015 C>G), RS1000223846 (10:49449199 G>T), RS1000287660 (10:49486846 T>A,C), RS1000298378 (10:49519561 A>G), RS1000304452 (10:49531546 G>A), RS1000348694 (10:49519244 T>C), RS1000376022 (10:49538046 G>T), RS1000403068 (10:49466656 C>A)

Disease associations

OMIM: gene MIM:609413 | disease phenotypes: MIM:214150, MIM:211980, MIM:278800, MIM:600630, MIM:613761, MIM:616946, MIM:133540, MIM:120970

GenCC curated gene-disease

Disease	Classification	Inheritance
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Definitive	Autosomal recessive
Cockayne syndrome type 2	Definitive	Autosomal recessive
UV-sensitive syndrome 1	Strong	Autosomal recessive
COFS syndrome	Supportive	Autosomal recessive
UV-sensitive syndrome	Supportive	Autosomal recessive
premature ovarian failure 11	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Definitive	AR

Mondo (15): cerebrooculofacioskeletal syndrome 1 (MONDO:0008955), lung cancer (MONDO:0008903), de Sanctis-Cacchione syndrome (MONDO:0010217), UV-sensitive syndrome 1 (MONDO:0010909), age related macular degeneration 5 (MONDO:0013409), premature ovarian failure 11 (MONDO:0014843), Cockayne syndrome type 2 (MONDO:0019570), Cockayne syndrome (MONDO:0016006), lung carcinoma (MONDO:0005138), intellectual disability (MONDO:0001071), Cockayne spectrum with or without cerebrooculofacioskeletal syndrome (MONDO:0100506), cone-rod dystrophy (MONDO:0015993), hereditary breast ovarian cancer syndrome (MONDO:0003582), COFS syndrome (MONDO:0008926), UV-sensitive syndrome (MONDO:0015797)

Orphanet (8): UV-sensitive syndrome (Orphanet:178338), Cockayne syndrome (Orphanet:191), Cockayne syndrome type 2 (Orphanet:90322), Rare genetic premature ovarian failure (Orphanet:485382), Cone rod dystrophy (Orphanet:1872), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), De Sanctis-Cacchione syndrome (Orphanet:1569), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

258 total (30 of 258 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000016	Urinary retention
HP:0000026	Male hypogonadism
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000072	Hydroureter
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000093	Proteinuria
HP:0000122	Unilateral renal agenesis
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000164	Abnormality of the dentition
HP:0000232	Everted lower lip vermilion
HP:0000233	Thin vermilion border
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000276	Long face
HP:0000292	Loss of facial adipose tissue
HP:0000303	Mandibular prognathia
HP:0000325	Triangular face
HP:0000331	Short chin
HP:0000340	Sloping forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000400	Macrotia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006168_8	Pulse pressure x alcohol consumption interaction (2df test)	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004329	alcohol drinking
EFO:0005763	pulse pressure measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D003057	Cockayne Syndrome	C05.116.099.343.250; C10.574.500.362; C16.131.077.250; C16.320.240.562; C16.320.400.200; C18.452.284.250
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C535992	De Sanctis-Cacchione syndrome (supp.)
C563466	UV-Sensitive Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
Aflatoxin B1	increases methylation	2
FR900359	affects phosphorylation	1
ginger extract	increases abundance, increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
illudin S	increases response to substance	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
arsenite	decreases reaction, affects binding	1
potassium bromate	affects response to substance, increases reaction	1
3-aminobenzamide	decreases reaction, increases abundance, affects response to substance	1
cupric chloride	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
ascaridole	affects response to substance	1
di-n-butylphosphoric acid	affects expression	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	decreases expression, decreases reaction	1
acylfulvene	increases response to substance, affects reaction	1
irofulven	increases response to substance	1
NU 1025	affects response to substance, decreases reaction, increases abundance	1
kurarinone	affects response to substance	1
N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride	increases abundance, decreases reaction, affects response to substance, decreases abundance, increases reaction	1
veliparib	affects response to substance, increases reaction	1
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide	increases abundance, decreases reaction	1
(+)-JQ1 compound	increases expression	1
norkurarinol	affects response to substance	1
Oxaliplatin	affects response to substance	1
Decitabine	increases expression	1
Arsenic Trioxide	affects response to substance	1
Acetyl Coenzyme A	decreases abundance, decreases reaction	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1

Cellosaurus cell lines

42 cell lines: 25 finite cell line, 8 transformed cell line, 4 induced pluripotent stem cell, 3 cancer cell line, 2 telomerase immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_2557	CS4BR LCL	Transformed cell line	Female
CVCL_4Y26	GM1629(SV)	Transformed cell line	Female
CVCL_7314	CS2BE	Finite cell line	Male
CVCL_7504	GM10902	Transformed cell line	Female
CVCL_A0JU	IUFi001-A	Induced pluripotent stem cell	Female
CVCL_F146	GM10903	Finite cell line	Female
CVCL_F147	GM10900	Transformed cell line	Female
CVCL_F148	GM10901	Finite cell line	Female
CVCL_F149	GM10904	Transformed cell line	Male
CVCL_F150	GM10905	Finite cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00158041	PHASE4	COMPLETED	Subcutaneous Amifostine Safety Study
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00365508	PHASE4	COMPLETED	Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking
NCT00440960	PHASE4	COMPLETED	Anesthesia in Flexible Bronchoscopy for Lung Cancer Diagnostic
NCT00492843	PHASE4	TERMINATED	Loading Dose or Standard Dose of Intravenous Ibandronate in Treating Patients With Lung Cancer and Skeletal Metastasis
NCT00666978	PHASE4	COMPLETED	Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking
NCT00675168	PHASE4	UNKNOWN	Positron Emission Tomography (PET)/Computed Tomography (CT) and Roentgen in Lung Cancer: Evaluation of Patients in General Practice
NCT00712647	PHASE4	COMPLETED	Carotene and Retinol Efficacy Trial
NCT00747773	PHASE4	COMPLETED	Cryospray Ablation of Surgical Resection Specimens To Determine Safety And Histological Effect In The Lung
NCT01060137	PHASE4	COMPLETED	Fentanyl Matrix in Lung Cancer Pain
NCT01381627	PHASE4	UNKNOWN	Safety Evaluation of Dexmedetomidine for EBUS-TBNA
NCT01741506	PHASE4	COMPLETED	Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer
NCT02246023	PHASE4	COMPLETED	Fractionated Versus Target-controlled Propofol Administration in Bronchoscopy
NCT02275702	PHASE4	COMPLETED	Randomized Study of Preoperative Dexamethasone for Quality of Recovery in VATS Lung Resection Patients
NCT02346318	PHASE4	UNKNOWN	The Randomized Controlled Clinical Trial of Kushen Injection
NCT02476526	PHASE4	COMPLETED	Safety of Low Dose IV Contrast CT Scanning in Chronic Kidney Disease
NCT02490059	PHASE4	COMPLETED	Ultrathin Bronchoscopy for Solitary Pulmonary Nodules
NCT02504801	PHASE4	UNKNOWN	Efficacy of Nebulized Pulmicort Respules in Primary Lung Cancer Patients With COPD
NCT02869789	PHASE4	COMPLETED	An Investigational Immuno-therapy Study for Safety of Nivolumab in Combination With Ipilimumab to Treat Advanced Cancers
NCT03302221	PHASE4	WITHDRAWN	Regional Haemodynamic Changes in Radial Artery Assessment With Continuous Pulsed-wave Doppler Ultrasound
NCT03313544	PHASE4	UNKNOWN	Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1
NCT03394222	PHASE4	COMPLETED	Effect of Preoperative Budesonide Inhalation on Arterial Blood Oxygenation and Intrapulmonary Shunt During OLV
NCT03570645	PHASE4	COMPLETED	Comparison of the Duration of Ropivacaine Combined With Dexmedetomidine or Dexamethasone on Paravertebral Block
NCT03571126	PHASE4	UNKNOWN	Olanzapine for the Prevention and Treatment of Nausea and Vomiting Induced by Chemotherapy of Lung Cancer
NCT03642457	PHASE4	TERMINATED	Efficacy Between Serratus Plane Block And Local Infiltration In Vats
NCT04145570	PHASE4	COMPLETED	A Single-Dose,ComparativeBioavailability Study ofTwo Formulations ofErlotinib150mgTabletsunderFastingConditions
NCT04155008	PHASE4	TERMINATED	Nutrition and Pharmacological Algorithm for Oncology Patients Study
NCT04613284	PHASE4	UNKNOWN	Rh-Endostatin Combined With CCRT(50 Gy) Followed by Durvalumab Maintenance for the Treatment of Specific Phase III NSCLC
NCT05463913	PHASE4	RECRUITING	Lung Nodule Detection Using Ultra-long FOV PET/CT
NCT05521789	PHASE4	RECRUITING	Erector Spinae Block for Thoracic Surgery
NCT05525338	PHASE4	RECRUITING	Comparison of Standard Dose Alectinib to Alectinib in Adjusted Dose Based on Alectinib Bloodlevels
NCT05663242	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Lung Tumors and Its Mechanism of Action
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06105801	PHASE4	RECRUITING	EBUS-TBNA vs Transbronchial Mediastinal Cryobiopsy for Adequacy of Next Generation Sequencing
NCT06276933	PHASE4	NOT_YET_RECRUITING	A Study of Camrelizumab Combined With Chemotherapy ± Thalidomide in First-line Treatment of Patients With Advanced Non-small Cell Lung Cancer (NSCLC)
NCT06646471	PHASE4	RECRUITING	PROspective Master-protocol for Evaluation of Systemic THErapeutics in Elderly With Thoracic Malignancies
NCT07405086	PHASE4	RECRUITING	Morning Versus Afternoon Administration of Immunotherapy for the Treatment of Advanced or Metastatic Solid Tumors, The Knight SHIFT Study
NCT00002550	PHASE3	COMPLETED	Chemotherapy Plus Radiation Therapy With or Without Surgery in Treating Patients With Stage IIIA Non-small Cell Lung Cancer
NCT00002583	PHASE3	COMPLETED	Vinorelbine + Cisplatin or No Further Therapy in Non-small Cell Lung Cancer That Has Been Surgically Removed
NCT00002623	PHASE3	COMPLETED	Chemotherapy Followed by Surgery or Radiation Therapy in Treating Patients With Stage III Non-small Cell Lung Cancer