MAP9

microtubule associated protein 9

Basic information

Region (hg38): 4:155342657-155376970

Links

ENSG00000164114 ∙ NCBI:79884 ∙ OMIM:610070 ∙ HGNC:26118 ∙ Uniprot:Q49MG5 ∙ 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 MAP9 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 MAP9 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			32	1		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	33	1	0

Variants in MAP9

This is a list of pathogenic ClinVar variants found in the MAP9 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-155347809-T-C		not specified	Uncertain significance (Apr 18, 2023)
4-155347826-G-A		not specified	Uncertain significance (Aug 24, 2022)
4-155347848-G-C		not specified	Uncertain significance (Apr 25, 2022)
4-155347859-C-T		not specified	Uncertain significance (Jun 30, 2022)
4-155352633-T-C		not specified	Uncertain significance (Jun 23, 2023)
4-155353220-T-C		not specified	Uncertain significance (Oct 05, 2021)
4-155353320-T-G		not specified	Uncertain significance (Jul 14, 2021)
4-155355099-C-T		not specified	Uncertain significance (Mar 06, 2023)
4-155355129-T-C		not specified	Uncertain significance (Jun 23, 2023)
4-155355736-T-A		not specified	Uncertain significance (Aug 17, 2021)
4-155355745-C-T		not specified	Uncertain significance (Aug 28, 2023)
4-155355865-A-T		not specified	Uncertain significance (Jul 19, 2023)
4-155355874-A-T		not specified	Uncertain significance (Aug 21, 2023)
4-155355880-T-C		not specified	Uncertain significance (Dec 27, 2023)
4-155357470-C-G		not specified	Uncertain significance (Dec 17, 2021)
4-155357483-A-G		not specified	Uncertain significance (Jun 29, 2022)
4-155357499-A-C		not specified	Uncertain significance (Mar 01, 2023)
4-155357501-T-G		not specified	Uncertain significance (Feb 13, 2024)
4-155360191-T-C		not specified	Uncertain significance (Mar 21, 2022)
4-155360262-G-A		not specified	Uncertain significance (Mar 24, 2023)
4-155360376-T-A		not specified	Uncertain significance (Feb 13, 2024)
4-155362068-T-C		not specified	Likely benign (May 03, 2023)
4-155362099-T-C		not specified	Uncertain significance (Jul 09, 2021)
4-155362129-T-A		not specified	Uncertain significance (Aug 16, 2022)
4-155362134-C-T		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP9	protein_coding	protein_coding	ENST00000311277	13	34313

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.54e-15	0.0635	125133	0	604	125737	0.00240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.155	288	296	0.975	0.0000136	4286
Missense in Polyphen		68	81.311	0.83629		1297
Synonymous	0.0815	102	103	0.990	0.00000517	1087
Loss of Function	0.737	25	29.3	0.853	0.00000132	470

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00973	0.00934
Ashkenazi Jewish	0.00114	0.00109
East Asian	0.00233	0.00212
Finnish	0.00491	0.00463
European (Non-Finnish)	0.00238	0.00223
Middle Eastern	0.00233	0.00212
South Asian	0.000333	0.000294
Other	0.00564	0.00523

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules. {ECO:0000269|PubMed:16049101}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.975
• rvis_EVS: 1.58
• rvis_percentile_EVS: 95.77

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.146
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0254

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Map9

Gene ontology

• Biological process: mitotic cytokinesis;regulation of mitotic centrosome separation;regulation of mitotic spindle organization;mitotic spindle assembly;regulation of mitotic cytokinesis
• Cellular component: astral microtubule;cytoplasm;axon;spindle midzone;mitotic spindle;mitotic spindle midzone
• Molecular function: microtubule binding