GEMIN8

gem nuclear organelle associated protein 8, the group of Gemins

Basic information

Region (hg38): X:14002474-14029893

Previous symbols: [ "FAM51A1" ]

Links

ENSG00000046647 ∙ NCBI:54960 ∙ OMIM:300962 ∙ HGNC:26044 ∙ Uniprot:Q9NWZ8 ∙ 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 GEMIN8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GEMIN8 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				3	1	4
missense			11	2	1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	11	5	2

Variants in GEMIN8

This is a list of pathogenic ClinVar variants found in the GEMIN8 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-14008956-C-T		not specified	Uncertain significance (Jun 29, 2023)
X-14008990-C-T		not specified	Uncertain significance (Apr 18, 2023)
X-14009019-C-T		not specified	Uncertain significance (Nov 22, 2022)
X-14009087-C-T			Likely benign (Nov 01, 2022)
X-14009103-C-T		not specified	Likely benign (Jul 05, 2023)
X-14009122-C-T		not specified	Uncertain significance (Dec 28, 2022)
X-14009128-C-T		not specified	Uncertain significance (Jul 06, 2021)
X-14020200-G-C		not specified	Uncertain significance (Apr 18, 2023)
X-14020249-G-A		not specified	Uncertain significance (Sep 14, 2022)
X-14020293-T-G		not specified	Likely benign (Jun 19, 2024)
X-14020320-T-C		not specified	Uncertain significance (Nov 30, 2022)
X-14020338-G-A		not specified	Uncertain significance (Nov 06, 2023)
X-14020351-C-T		not specified	Uncertain significance (Jun 10, 2024)
X-14020358-G-A			Likely benign (Oct 01, 2022)
X-14020414-C-T		not specified	Likely benign (Nov 18, 2022)
X-14020415-G-C			Benign (Sep 19, 2018)
X-14020459-C-A			Benign (Dec 31, 2019)
X-14020493-C-T			Likely benign (Dec 01, 2022)
X-14020524-G-A		not specified	Uncertain significance (Aug 16, 2021)
X-14020542-A-G			Benign (May 31, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GEMIN8	protein_coding	protein_coding	ENST00000380523	3	21615

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.945	0.0552	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.600	93	111	0.840	0.00000968	1599
Missense in Polyphen		15	28.595	0.52456		495
Synonymous	0.305	41	43.6	0.941	0.00000400	433
Loss of Function	2.80	0	9.15	0.00	7.47e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. {ECO:0000269|PubMed:17023415, ECO:0000269|PubMed:18984161}.
• Pathway: RNA transport - Homo sapiens (human);snRNP Assembly;Metabolism of RNA;Metabolism of non-coding RNA (Consensus)

Recessive Scores

• pRec: 0.0938

Intolerance Scores

• rvis_EVS: 0.13
• rvis_percentile_EVS: 63

Haploinsufficiency Scores

• pHI: 0.0958
• hipred: N
• hipred_score: 0.355
• ghis: 0.485

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gemin8

Gene ontology

• Biological process: spliceosomal snRNP assembly;import into nucleus
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;SMN complex;SMN-Sm protein complex;Gemini of coiled bodies
• Molecular function: protein binding