DRAXIN

dorsal inhibitory axon guidance protein

Basic information

Region (hg38): 1:11691710-11725857

Previous symbols: [ "C1orf187" ]

Links

ENSG00000162490 ∙ NCBI:374946 ∙ OMIM:612682 ∙ HGNC:25054 ∙ Uniprot:Q8NBI3 ∙ 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 DRAXIN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRAXIN gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			17	2	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	17	2	2

Variants in DRAXIN

This is a list of pathogenic ClinVar variants found in the DRAXIN region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-11706410-C-T		not specified	Uncertain significance (Aug 08, 2022)
1-11706430-C-T		not specified	Uncertain significance (Jun 16, 2023)
1-11706436-C-T			Likely benign (Mar 01, 2023)
1-11706437-G-A		not specified	Uncertain significance (Oct 18, 2021)
1-11706450-G-A			Benign (Jan 05, 2018)
1-11706473-C-G		not specified	Uncertain significance (Apr 04, 2024)
1-11706587-A-G		not specified	Uncertain significance (Oct 12, 2022)
1-11706599-G-T		not specified	Uncertain significance (Sep 22, 2022)
1-11706619-G-A		not specified	Uncertain significance (Dec 14, 2022)
1-11706632-G-A		not specified	Uncertain significance (Sep 13, 2023)
1-11706661-C-A		not specified	Uncertain significance (Mar 24, 2023)
1-11709319-G-C		not specified	Uncertain significance (Jun 07, 2023)
1-11709337-G-C		not specified	Uncertain significance (Sep 20, 2023)
1-11709379-C-T		not specified	Uncertain significance (Dec 07, 2021)
1-11711872-G-A			Benign (Jan 05, 2018)
1-11712349-G-A		not specified	Uncertain significance (Jan 08, 2024)
1-11712351-G-A		not specified	Likely benign (Mar 29, 2022)
1-11712394-G-A		not specified	Uncertain significance (Nov 21, 2023)
1-11712426-C-T		not specified	Uncertain significance (Mar 01, 2024)
1-11715166-G-C		not specified	Uncertain significance (Jan 24, 2023)
1-11715187-G-A		not specified	Uncertain significance (Oct 17, 2023)
1-11715214-T-A			Likely benign (Mar 01, 2023)
1-11719596-A-G		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRAXIN	protein_coding	protein_coding	ENST00000294485	6	34129

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.89e-10	0.0668	125703	0	41	125744	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	161	216	0.747	0.0000128	2233
Missense in Polyphen		50	74.696	0.66938		802
Synonymous	1.06	80	93.0	0.860	0.00000571	736
Loss of Function	0.0157	15	15.1	0.996	8.88e-7	151

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000269	0.000266
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000136	0.000132
Middle Eastern	0.000110	0.000109
South Asian	0.000297	0.000294
Other	0.000668	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta- catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway. {ECO:0000255|HAMAP- Rule:MF_03060}.

Recessive Scores

• pRec: 0.102

Intolerance Scores

• rvis_EVS: 1.22
• rvis_percentile_EVS: 93.19

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.238
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Draxin
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: draxin
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: dead

Gene ontology

• Biological process: axon guidance;Wnt signaling pathway;dorsal spinal cord development;commissural neuron differentiation in spinal cord;negative regulation of axon extension;forebrain development;negative regulation of neuron apoptotic process;negative regulation of canonical Wnt signaling pathway
• Cellular component: extracellular region
• Molecular function: protein binding