EAPP

E2F associated phosphoprotein

Basic information

Region (hg38): 14:34515938-34539704

Previous symbols: [ "C14orf11" ]

Links

ENSG00000129518 ∙ NCBI:55837 ∙ OMIM:609486 ∙ HGNC:19312 ∙ Uniprot:Q56P03 ∙ 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 EAPP gene.

• not_specified (40 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EAPP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018453.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			39	2		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EAPP	protein_coding	protein_coding	ENST00000250454	6	23782

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.23e-10	0.0733	124746	0	48	124794	0.000192

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0287	151	152	0.993	0.00000741	1887
Missense in Polyphen		44	44.033	0.99925		607
Synonymous	-0.00880	55	54.9	1.00	0.00000295	491
Loss of Function	0.0596	15	15.3	0.984	7.39e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000479	0.000445
Finnish	0.00	0.00
European (Non-Finnish)	0.000249	0.000247
Middle Eastern	0.000479	0.000445
South Asian	0.000274	0.000261
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression. {ECO:0000269|PubMed:15716352}.

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.739
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.96

Haploinsufficiency Scores

• pHI: 0.177
• hipred: Y
• hipred_score: 0.626
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.653

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eapp

Gene ontology

• Biological process: positive regulation of cell population proliferation;positive regulation of transcription elongation from RNA polymerase II promoter;negative regulation of transcription elongation from RNA polymerase II promoter
• Cellular component: nucleus;cytoplasm