Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147965
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 98 member C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM98C
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0072669 Component TRNA-splicing ligase complex IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Asphyxiating thoracic dystrophy Asphyxiating Thoracic Dystrophy 1 rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980
View all (112 more)
Polydactyly Polydactyly rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474
View all (3 more)
Associations from Text Mining
Disease Name Relationship Type References
Ciliopathies Associate 27894351