CREG1

cellular repressor of E1A stimulated genes 1

Basic information

Region (hg38): 1:167529117-167553805

Previous symbols: [ "CREG" ]

Links

ENSG00000143162

∙ NCBI:8804 ∙ OMIM:618055 ∙ HGNC:2351 ∙ Uniprot:O75629 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CREG1 gene.

not_specified (34 variants)
CREG1-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CREG1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003851.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CREG1	protein_coding	protein_coding	ENST00000370509	4	24091

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00122	0.652	125724	0	11	125735	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.423	67	77.5	0.865	0.00000366	1383
Missense in Polyphen		37	35.654	1.0377		540
Synonymous	0.645	25	29.5	0.849	0.00000154	472
Loss of Function	0.643	5	6.81	0.734	3.52e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000133	0.000133
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000662	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R. {ECO:0000269|PubMed:12934103, ECO:0000269|PubMed:9710587}.;
Pathway: Senescence and Autophagy in Cancer;Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec: 0.115

Haploinsufficiency Scores

pHI: 0.583
hipred: N
hipred_score: 0.188
ghis: 0.562

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.466

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Creg1
Phenotype: liver/biliary system phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;multicellular organism development;cell population proliferation;regulation of growth;neutrophil degranulation;negative regulation of nucleic acid-templated transcription
Cellular component: extracellular region;extracellular space;transcription factor complex;azurophil granule lumen;extracellular exosome
Molecular function: transcription corepressor activity;transcription factor binding;cofactor binding