KIAA1217

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	7 clinvar	1 clinvar	10
missense			280 clinvar	20 clinvar	4 clinvar	304
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	287	27	5	319

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 91 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019590.5	RefSeq	NP_062536.2	21	MANE Select
ENST00000376454.8	Ensembl	ENSP00000365637.3	21	MANE Select
NM_001098500.3	RefSeq	NP_001091970.1	17	Standard
NM_001282767.2	RefSeq	NP_001269696.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

EGFR1

Biological Process

embryonic skeletal system development

Molecular Function

molecular_function

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376454
Coding exons: 21
Length: 853098
Individuals with no LoFs: 125678
Homozygous LoFs: 0
Heterozygous LoFs: 70
Defined: 125748
p: 0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.294	1095	1.12e+3	0.975	0.0000650	12757
Missense (PolyPhen)		554	575.57	0.96252		6691
Synonymous	-1.01	469	442	1.06	0.0000284	3844
Loss of Function	5.55	21	71.8	0.293	0.00000374	908

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00033	0.00032	rare
Ashkenazi Jewish	0.00052	0.00050	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00074	0.00074	rare
European (Non-Finnish)	0.00024	0.00023	rare
South Asian	0.000098	0.000098	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for normal development of intervertebral disks. {ECO:0000250|UniProtKB:A2AQ25}.;

Recessive Scores

pRec: 0.0945

Intolerance Scores

LoFtool: 0.533
RVIS EVS: -3.01
RVIS percentile EVS: 0.52

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.596

Gene Damage Prediction

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