KSR1

kinase suppressor of ras 1, the group of RAF family

Basic information

Region (hg38): 17:27456447-27626438

Previous symbols: [ "KSR" ]

Links

ENSG00000141068 ∙ NCBI:8844 ∙ OMIM:601132 ∙ HGNC:6465 ∙ Uniprot:Q8IVT5 ∙ 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 KSR1 gene.

• Inborn genetic diseases (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KSR1 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						0
missense			33	1		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	1	0

Variants in KSR1

This is a list of pathogenic ClinVar variants found in the KSR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-27577567-T-C		not specified	Uncertain significance (Dec 13, 2021)
17-27577568-G-A		not specified	Uncertain significance (Feb 28, 2023)
17-27577591-G-A		not specified	Uncertain significance (Jan 26, 2022)
17-27582675-A-C		not specified	Uncertain significance (Jun 10, 2022)
17-27582688-C-T		not specified	Uncertain significance (Aug 28, 2023)
17-27582759-A-C		not specified	Uncertain significance (Aug 17, 2021)
17-27582801-C-A		not specified	Uncertain significance (Jun 22, 2023)
17-27582921-C-T		not specified	Uncertain significance (Jun 02, 2023)
17-27582958-G-A		not specified	Uncertain significance (Oct 26, 2022)
17-27582961-G-A		not specified	Uncertain significance (Oct 29, 2021)
17-27582985-G-A		not specified	Uncertain significance (Jun 09, 2022)
17-27582997-C-A		not specified	Uncertain significance (Nov 10, 2022)
17-27582997-C-T		not specified	Uncertain significance (Jul 19, 2023)
17-27583006-G-A		not specified	Uncertain significance (Jul 12, 2023)
17-27583083-A-C		not specified	Uncertain significance (Apr 19, 2023)
17-27588516-G-A		not specified	Uncertain significance (Jan 31, 2023)
17-27592585-G-A		not specified	Uncertain significance (Oct 03, 2022)
17-27597293-T-C		not specified	Uncertain significance (Nov 09, 2021)
17-27597347-C-T		not specified	Uncertain significance (Aug 02, 2022)
17-27603861-C-T		not specified	Uncertain significance (Dec 08, 2023)
17-27603863-C-G		not specified	Uncertain significance (Aug 08, 2023)
17-27603866-C-T		not specified	Uncertain significance (Jan 30, 2024)
17-27604684-G-A		not specified	Uncertain significance (Sep 16, 2021)
17-27604694-C-T		not specified	Uncertain significance (Sep 27, 2021)
17-27605491-G-A		not specified	Uncertain significance (Dec 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KSR1	protein_coding	protein_coding	ENST00000398988	19	169792

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0698	0.930	124647	0	14	124661	0.0000562

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.00	360	484	0.744	0.0000319	4911
Missense in Polyphen		123	183.59	0.66999		1826
Synonymous	-0.543	213	203	1.05	0.0000140	1519
Loss of Function	4.28	10	38.7	0.258	0.00000191	445

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000667	0.0000619
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000670	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Scaffolding protein that is part of a multiprotein signaling complex. Promotes phosphorylation of Raf family members and activation of downstream MAP kinases. Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP. Does not have kinase activity by itself. {ECO:0000250|UniProtKB:Q61097}.
• Pathway: C-type lectin receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);EGF-Ncore;TNF alpha Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Pathways in clear cell renal cell carcinoma;Ras Signaling;MAP2K and MAPK activation;RAF activation;Disease;Signal Transduction;ceramide signaling pathway;ErbB1 downstream signaling;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;PDGFR-beta signaling pathway;Ceramide signaling pathway (Consensus)

Recessive Scores

• pRec: 0.151

Haploinsufficiency Scores

• pHI: 0.308
• hipred: Y
• hipred_score: 0.756
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.967

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ksr1
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); skeleton phenotype; immune system 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); neoplasm; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: MAPK cascade;Ras protein signal transduction;cAMP-mediated signaling;regulation of cell population proliferation;regulation of MAP kinase activity;positive regulation of MAPK cascade
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;cytosol;membrane;ruffle membrane;protein-containing complex
• Molecular function: protein kinase activity;MAP-kinase scaffold activity;protein binding;ATP binding;protein C-terminus binding;mitogen-activated protein kinase kinase binding;metal ion binding;chaperone binding;Hsp90 protein binding;14-3-3 protein binding