ERICH6B

Gene

glutamate rich 6B

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

FAM194B

MANE transcript

NM_182542.3

Inheritance

—

ClinVar variants

U:87B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr13:45,534,522-45,615,739

External References & Databases

Ensembl (ENSG00000165837)

Transcript & Mutation Effects

hg38 • Region Span ~81.2 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 ERICH6B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 93

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182542.3. 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				7 clinvar		7
missense			86 clinvar	9 clinvar		95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	87	16	0	103

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_182542.3	RefSeq	NP_872348.2	13	MANE Select
ENST00000298738.3	Ensembl	ENSP00000298738.2	13	MANE Select
XM_011534965.3	RefSeq	XP_011533267.1	13	Standard
XM_017020418.2	RefSeq	XP_016875907.1	13	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000298738
Coding exons: 13
Length: 81218
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.79	250	344	0.728	0.0000171	4564
Missense (PolyPhen)		44	64.744	0.6796		908
Synonymous	1.04	118	133	0.886	0.00000700	1229
Loss of Function	1.23	26	33.7	0.771	0.00000162	473

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.71
RVIS percentile EVS: 98.94

Essentials

Essential (gene trap): N