Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9557
Gene name	Chromodomain helicase DNA binding protein 1 like
Gene symbol	CHD1L
Synonyms (NCBI Gene)	ALC1CHDL
Chromosome	1
Chromosome location	1q21.1
Summary	This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided

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SNP ID	Visualize variation	Clinical significance	Consequence
rs782144677	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT044802	hsa-miR-320a	CLASH	23622248
MIRT1963410	hsa-miR-326	CLIP-seq
MIRT1963411	hsa-miR-330-5p	CLIP-seq
MIRT1963412	hsa-miR-555	CLIP-seq
MIRT2199871	hsa-miR-5095	CLIP-seq
MIRT2199872	hsa-miR-552	CLIP-seq
MIRT2199873	hsa-miR-656	CLIP-seq
MIRT2502570	hsa-miR-203	CLIP-seq
MIRT2502571	hsa-miR-25	CLIP-seq
MIRT2502572	hsa-miR-32	CLIP-seq
MIRT2502573	hsa-miR-363	CLIP-seq
MIRT2502574	hsa-miR-367	CLIP-seq
MIRT2502575	hsa-miR-4303	CLIP-seq
MIRT2502576	hsa-miR-4311	CLIP-seq
MIRT2502577	hsa-miR-4649-3p	CLIP-seq
MIRT2502578	hsa-miR-4738-3p	CLIP-seq
MIRT2502579	hsa-miR-4762-3p	CLIP-seq
MIRT2502580	hsa-miR-92a	CLIP-seq
MIRT2502581	hsa-miR-92b	CLIP-seq
MIRT2502570	hsa-miR-203	CLIP-seq
MIRT2502575	hsa-miR-4303	CLIP-seq
MIRT2502576	hsa-miR-4311	CLIP-seq
MIRT2502578	hsa-miR-4738-3p	CLIP-seq
MIRT2502579	hsa-miR-4762-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IBA
GO:0000166	Function	Nucleotide binding	IDA	19661379
GO:0000166	Function	Nucleotide binding	IEA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003678	Function	DNA helicase activity	TAS	19661379
GO:0005515	Function	Protein binding	IPI	19661379, 19666485, 23891004
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19661379
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IDA	34486521
GO:0006281	Process	DNA repair	IDA	34486521
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	19661379
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	19661379
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	19661379, 29220652, 29220653
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	19661379
GO:0031491	Function	Nucleosome binding	IDA	33357431, 34210977, 34486521
GO:0035861	Component	Site of double-strand break	IDA	29220652, 29220653
GO:0090734	Component	Site of DNA damage	IDA	34486521
GO:0140566	Function	Histone reader activity	IDA	34874266
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	29220652, 29220653, 33357431, 34210977, 34486521
GO:0160004	Function	Poly-ADP-D-ribose modification-dependent protein binding	IDA	29220652, 29220653, 34486521, 34874266

MIM	HGNC	e!Ensembl
613039	1916	ENSG00000131778

Q86WJ1

Protein name

Chromodomain-helicase-DNA-binding protein 1-like (EC 3.6.4.-) (Amplified in liver cancer protein 1)

Protein function

ATP-dependent chromatin remodeler that mediates chromatin-remodeling following DNA damage (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:33357431, PubMed:34210977, PubMed:34486521, PubMed:34874266). Recruited to DNA damage sites thro

PDB

6ZHX , 6ZHY , 7ENN , 7EPU , 7OTQ , 8B0A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	57 → 328	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	347 → 459	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Frequently overexpressed in hepatomacellular carcinomas. {ECO:0000269|PubMed:18023026}.

Sequence

MERAGATSRGGQAPGFLLRLHTEGRAEAARVQEQDLRQWGLTGIHLRSYQLEGVNWLAQR
FHCQNGCILGDEMGLGKTCQTIALFIYLAGRLNDEGPFLILCPLSVLSNWKEEMQRFAPG
LSCVTYAGDKEERACLQQDLKQESRFHVLLTTYEICLKDASFLKSFPWSVLVVDEAHRLK
NQSSLLHKTLSEFSVVFSLLLTGTPIQNSLQELYSLLSFVEPDLFSKEEVGDFIQRYQDI
EKESESASELHKLLQPFLLRRVKAEVATELPKKTEVVIYHGMSALQKKYYKAILMKDLDA
FENETAKKVKLQNILSQLRKCVDHPYLFDGVEPEPFEVGDHLTEASGKLHLLDKLLAFLY
SGGHRVLLFSQMTQMLDILQDYMDYRGYSYERVDGSVRGEERHLAIKNFGQQPIFVFLLS
TRAGGVGMNLTAADTVIFVDSDFNPQNDLQAAARAHRIGQNKSVKVIRLIGRDTVEEIVY
RKAASKLQLTNMIIEGGHFTLGAQKPAADADLQLSEILKFGLDKLLASEGSTMDEIDLES
ILGETKDGQWVSDALPAAEGGSRDQEEGKNHMYLFEGKDYSKEPSKEDRKSFEQLVNLQK
TLLEKASQEGRSLRNKGSVLIPGLVEGSTKRKRVLSPEELEDRQKKRQEAAAKRRRLIEE
KKRQKEEAEHKKKMAWWESNNYQSFCLPSEESEPEDLENGEESSAELDYQDPDATSLKYV
SGDVTHPQAGAEDALIVHCVDDSGHWGRGGLFTALEKRSAEPRKIYELAGKMKDLSLGGV
LLFPVDDKESRNKGQDLLALIVAQHRDRSNVLSGIKMAALEEGLKKIFLAAKKKKASVHL
PRIGHATKGFNWYGTERLIRKHLAARGIPTYIYYFPRSKSAVLHSQSSSSSSRQLVP

Sequence length

897

Interactions

View interactions

	Reactome
			Formation of Incision Complex in GG-NER Dual Incision in GG-NER

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the urinary system	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHD1L-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar ClinGen, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Decreased total lymphocyte count	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	26360781	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	26360781	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Associate	28332277	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Associate	33275888	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	25153161, 33462394, 39201277	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Associate	24429398	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Associate	23807680	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	19666485, 23020525, 25153161, 26360781, 32922205, 37923899	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	26360781	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	32922205	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	28791382, 34045552	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	33462394	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Stimulate	35001835	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	26162969	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Associate	22318994	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary renal agenesis	Associate	34311961, 39342328	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Stimulate	35001835	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	33723941	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mullerian aplasia	Associate	39342328	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	23020525, 33723941, 35192363	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	26360781, 32922205	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23807680, 25153161, 26162969, 29220653, 32922205, 33275888, 34210977, 35192363	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligohydramnios	Associate	31759543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	23020525, 32922205	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	21824431	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Associate	31759543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	33723941	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urethral Neoplasms	Associate	23825644	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	23807680	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Associate	34311961	★★★★★ ★☆☆☆☆ Found in Text Mining only

CHD1L (chromodomain helicase DNA binding protein 1 like)