NGDN

protein-coding

neuroguidin, the group of SSU processome

Gene summary

Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]

Previous symbols:

C14orf120

MANE transcript

NM_001042635.2

Inheritance

—

ClinVar variants

U:69

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr14:23,469,679-23,509,862

External References & Databases

Ensembl (ENSG00000129460)

Transcript & Mutation Effects

hg38 • Region Span ~40.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NGDN variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 61

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001042635.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			62 clinvar			62
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	69	0	0	69

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001042635.2	RefSeq	NP_001036100.1	11	MANE Select
ENST00000408901.8	Ensembl	ENSP00000386134.3	11	MANE Select
NM_015514.2	RefSeq	NP_056329.1	10	Standard
ENST00000397154.7	Ensembl	ENSP00000380340.3	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
regulation of translation

Molecular Function

RNA binding
protein binding

Cellular Component

chromosome, centromeric region
nucleus
nucleolus
mitochondrion
filopodium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000408901
Coding exons: 11
Length: 40175
Individuals with no LoFs: 125632
Homozygous LoFs: 0
Heterozygous LoFs: 115
Defined: 125747
p: 0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0236	190	191	0.995	0.0000117	2053
Missense (PolyPhen)		43	52.42	0.82029		612
Synonymous	-0.395	63	59.1	1.07	0.00000265	597
Loss of Function	1.28	15	21.4	0.702	0.00000127	238

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00067	0.00067	rare
South Asian	0.00078	0.00078	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in the translational repression of cytoplasmic polyadenylation element (CPE)-containing mRNAs. {ECO:0000250}.;

Recessive Scores

pRec: 0.158

Intolerance Scores

LoFtool: 0.963
RVIS EVS: -0.22
RVIS percentile EVS: 37.43

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.486

Gene Damage Prediction

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