APOB3'MAR

Chr 2

APOB 3' scaffold/matrix attachment region

NCBI Gene: 106632268

This region represents a portion of an approximately 50 kb DNase I sensitive domain encompassing the apolipoprotein B (APOB) gene. It includes a matrix attachment region (S/MAR) that coincides with a DNase I hypersensitive site and contains over 30 copies of an approximately 15 nt AT-rich hypervariable repeat. There is also an additional DNase I hypersensitive site further upstream in the 3' UTR of APOB. The S/MAR element can confer position-independent expression to a transgene and functions as an insulator in a Drosophila model system. [provided by RefSeq, Oct 2015]

63
ClinVar variants
9
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— APOB3'MAR
📋
ClinVar Variants
9 Pathogenic / Likely Pathogenic· 30 VUS of 63 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/APOB3'MAR?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

63 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
VUS30
Likely Benign13
Benign1
Conflicting10
9
Pathogenic
30
VUS
13
Likely Benign
1
Benign
10
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
0
0
0
VUS
0
22
8
0
30
Likely Benign
0
4
0
9
13
Benign
0
0
1
0
1
Conflicting
—10
Total02618963

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

APOB3'MAR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for APOB3'MAR

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools