Gene Gene information from NCBI Gene database.
Entrez ID 91851
Gene name Chordin like 1
Gene symbol CHRDL1
Synonyms (NCBI Gene)
CHLMGC1MGCNNRLN1VOPTdA141H5.1
Chromosome X
Chromosome location Xq23
Summary This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants enc
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs387906713 C>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs387906714 G>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs398122851 C>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs398122852 CT>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs587776868 A>C Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
1045
miRTarBase ID miRNA Experiments Reference
MIRT022205 hsa-miR-124-3p Microarray 18668037
MIRT613944 hsa-miR-3129-3p HITS-CLIP 23313552
MIRT613943 hsa-miR-5583-5p HITS-CLIP 23313552
MIRT608328 hsa-miR-140-3p HITS-CLIP 23313552
MIRT613942 hsa-miR-155-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000578 Process Embryonic axis specification IEA
GO:0001503 Process Ossification IEA
GO:0001654 Process Eye development IMP 22284829
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300350 29861 ENSG00000101938
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BU40
Protein name Chordin-like protein 1 (Neuralin-1) (Neurogenesin-1) (Ventroptin)
Protein function Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00093 VWC 37 99 von Willebrand factor type C domain Family
PF00093 VWC 115 178 von Willebrand factor type C domain Family
PF00093 VWC 260 322 von Willebrand factor type C domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes. {ECO:00002
Sequence
MRKKWKMGGMKYIFSLLFFLLLEGGKTEQVKHSETYCMFQDKKYRVGERWHPYLEPYGLV
YCVNCICSENGNVLCSRVRCPNVHCLSPVHIPHLCCPRC
PDSLPPVNNKVTSKSCEYNGT
TYQHGELFVAEGLFQNRQPNQCTQCSCSEGNVYCGLKTCPKLTCAFPVSVPDSCCRVC
RG
DGELSWEHSDGDIFRQPANREARHSYHRSHYDPPPSRQAGGLSRFPGARSHRGALMDSQQ
ASGTIVQIVINNKHKHGQVCVSNGKTYSHGESWHPNLRAFGIVECVLCTCNVTKQECKKI
HCPNRYPCKYPQKIDGKCCKVC
PGKKAKELPGQSFDNKGYFCGEETMPVYESVFMEDGET
TRKIALETERPPQVEVHVWTIRKGILQHFHIEKISKRMFEELPHFKLVTRTTLSQWKIFT
EGEAQISQMCSSRVCRTELEDLVKVLYLERSEKGHC
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by BMP
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Isolated congenital megalocornea Pathogenic; Likely pathogenic rs2148509595, rs2148418732 RCV001728087
RCV002272816
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalocornea Pathogenic; Likely pathogenic rs2148409748, rs2148418538, rs2090111362, rs2148409694, rs2148465558, rs2148463846, rs775515705, rs863225435, rs1057516043, rs398122851, rs387906713, rs587776868, rs398122852, rs387906714 RCV001376072
RCV001391101
RCV001391102
RCV001391103
RCV001391104
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
CHRDL1-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL KERATOGLOBUS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28380678
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 29380399
★☆☆☆☆
Found in Text Mining only
Arcus Senilis Arcus Senilis HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 34644435 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26976638
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26976638, 32775417 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 37533202 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 35993054 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 38188687 Inhibit
★☆☆☆☆
Found in Text Mining only