MAP9

protein-coding

microtubule associated protein 9

Gene summary

ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_001039580.2

Inheritance

—

ClinVar variants

U:88B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.85

Max pathogenic AF

—

Genomic locus

chr4:155,342,658-155,376,970

External References & Databases

Ensembl (ENSG00000164114)

Transcript & Mutation Effects

hg38 • Region Span ~34.3 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 MAP9 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 88

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039580.2. 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			1 clinvar			1
missense			84 clinvar	5 clinvar		89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	88	5	0	93

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039580.2	RefSeq	NP_001034669.1	13	MANE Select
ENST00000311277.9	Ensembl	ENSP00000310593.4	13	MANE Select
ENST00000379248.6	Ensembl	ENSP00000368550.2	2	Standard
ENST00000424373.5	Ensembl	ENSP00000413553.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitotic cytokinesis
regulation of mitotic centrosome separation
regulation of mitotic spindle organization
mitotic spindle assembly
regulation of mitotic cytokinesis

Molecular Function

microtubule binding

Cellular Component

astral microtubule
cytoplasm
axon
spindle midzone
mitotic spindle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000311277
Coding exons: 13
Length: 34313
Individuals with no LoFs: 125133
Homozygous LoFs: 0
Heterozygous LoFs: 604
Defined: 125737
p: 0.00240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.155	288	296	0.975	0.0000136	4286
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0091	0.0087	notable
Latino/Admixed American	0.00063	0.00055	rare
Ashkenazi Jewish	0.0011	0.0011	notable
East Asian	0.0023	0.0021	notable
Finnish	0.0049	0.0046	notable
European (Non-Finnish)	0.0024	0.0022	notable
South Asian	0.00033	0.00029	rare
Other	0.0056	0.0052	notable

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0254

Gene Damage Prediction

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