FAM98C (family with sequence similarity 98 member C)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 147965
Gene name Family with sequence similarity 98 member C
Gene symbol FAM98C
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.2
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs201037487 C>G,T Likely-pathogenic Stop gained, genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT988907 hsa-miR-2355-5p CLIP-seq
MIRT988908 hsa-miR-4756-3p CLIP-seq
MIRT988909 hsa-miR-553 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0072669 Component TRNA-splicing ligase complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q17RN3
Protein name Protein FAM98C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10239 DUF2465 15 → 336 Protein of unknown function (DUF2465) Family
Sequence
Sequence length 349
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Asphyxiating thoracic dystrophy 3 Likely pathogenic rs201037487 RCV000256417
Autism spectrum disorder Likely pathogenic rs201037487 RCV003313949
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs76769969 RCV005902899
Clear cell carcinoma of kidney Benign rs76769969 RCV005902900
Colon adenocarcinoma Benign rs76769969 RCV005902897
FAM98C-related disorder Benign; Likely benign rs74987063, rs75686841, rs3745961, rs59917662, rs150024474, rs369190079, rs200159503, rs375145477, rs3745962, rs76769969 RCV003909250
RCV003909403
RCV003974331
RCV003979855
RCV003974015
RCV003911481
RCV003922304
RCV003926986
RCV003982061
RCV003958312
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 27894351