Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 8241
Gene name RNA binding motif protein 10
Gene symbol RBM10
Synonyms (NCBI Gene)
DXS8237EGPATC9GPATCH9MINAS-60S1-1TARPSZRANB5
Chromosome X
Chromosome location Xp11.3
Summary This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X
SNPs SNP information provided by dbSNP.
16 Show/Hide all (16)
SNP ID Visualize variation Clinical significance Consequence
rs149109733 A>G Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs267607000 G>A Pathogenic Coding sequence variant, stop gained
rs886041461 AT>- Pathogenic Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886041742 ->T Pathogenic Splice donor variant
rs886044715 ->A Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
15 Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT049482 hsa-miR-92a-3p qRT-PCR 23622248
MIRT050535 hsa-miR-20a-5p CLASH 23622248
MIRT049482 hsa-miR-92a-3p CLASH 23622248
MIRT046742 hsa-miR-222-3p CLASH 23622248
MIRT045311 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30 Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300080 9896 ENSG00000182872
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P98175
Protein name RNA-binding protein 10 (G patch domain-containing protein 9) (RNA-binding motif protein 10) (RNA-binding protein S1-1) (S1-1)
Protein function Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). May be involved in post-transcriptional processing, most probably in mRNA splicing (PubMed:18315527). Binds to RNA homopolymers, with a preference for poly(G) and p
PDB 2LXI , 2M2B , 2MXV , 2MXW , 5ZSW , 5ZSY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 131 → 202 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00641 zf-RanBP 214 → 242 Zn-finger in Ran binding protein and others Domain
PF01585 G-patch 858 → 902 G-patch domain Family
PF17780 OCRE 568 → 619 OCRE domain Domain
Sequence
MEYERRGGRGDRTGRYGATDRSQDDGGENRSRDHDYRDMDYRSYPREYGSQEGKHDYDDS
SEEQSAEDSYEASPGSETQRRRRRRHRHSPTGPPGFPRDGDYRDQDYRTEQGEEEEEEED
EEEEEKASNIVMLRMLPQAATEDDIRGQLQSHGVQAREVRLMRNKSSGQSRGFAFVEFSH
LQDATRWMEANQHSLNILGQKV
SMHYSDPKPKINEDWLCNKCGVQNFKRREKCFKCGVPK
SE
AEQKLPLGTRLDQQTLPLGGRELSQGLLPLPQPYQAQGVLASQALSQGSEPSSENAND
TIILRNLNPHSTMDSILGALAPYAVLSSSNVRVIKDKQTQLNRGFAFIQLSTIVEAAQLL
QILQALHPPLTIDGKTINVEFAKGSKRDMASNEGSRISAASVASTAIAAAQWAISQASQG
GEGTWATSEEPPVDYSYYQQDEGYGNSQGTESSLYAHGYLKGTKGPGITGTKGDPTGAGP
EASLEPGADSVSMQAFSRAQPGAAPGIYQQSAEASSSQGTAANSQSYTIMSPAVLKSELQ
SPTHPSSALPPATSPTAQESYSQYPVPDVSTYQYDETSGYYYDPQTGLYYDPNSQYYYNA
QSQQYLYWDGERRTYVPAL
EQSADGHKETGAPSKEGKEKKEKHKTKTAQQIAKDMERWAR
SLNKQKENFKNSFQPISSLRDDERRESATADAGYAILEKKGALAERQHTSMDLPKLASDD
RPSPPRGLVAAYSGESDSEEEQERGGPEREEKLTDWQKLACLLCRRQFPSKEALIRHQQL
SGLHKQNLEIHRRAHLSENELEALEKNDMEQMKYRDRAAERREKYGIPEPPEPKRRKYGG
ISTASVDFEQPTRDGLGSDNIGSRMLQAMGWKEGSGLGRKKQGIVTPIEAQTRVRGSGLG
AR
GSSYGVTSTESYKETLHKTMVTRFNEAQ
Sequence length 930
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DW28
Protein name Ribosome biogenesis inhibitor MINAS-60 (MINAS-60)
Protein function Acts as a late-stage inhibitor of pre-60S ribosome assembly by preventing pre-60S ribosome export from nucleus.
Family and domains
Sequence
MEYERRGGRGDRTGRYGATDRSQDDGGENRSRDHDYRDMDYRSYPREYGSQEGKHDYDDS
SEEQSAEDSYEASPGSETQRRRRRRHRHSPTGPPGFPRDGDYRDQDYRTEQGEEEEEEED
EEEEEKASNIVMLRMLPQAATEDDIRGQLQSHGVQAREVRLMRNKSSGQSRGFAFVEFSH
LQDATRWMEANQHSLNILGQKV
SMHYSDPKPKINEDWLCNKCGVQNFKRREKCFKCGVPK
SE
AEQKLPLGTRLDQQTLPLGGRELSQGLLPLPQPYQAQGVLASQALSQGSEPSSENAND
TIILRNLNPHSTMDSILGALAPYAVLSSSNVRVIKDKQTQLNRGFAFIQLSTIVEAAQLL
QILQALHPPLTIDGKTINVEFAKGSKRDMASNEGSRISAASVASTAIAAAQWAISQASQG
GEGTWATSEEPPVDYSYYQQDEGYGNSQGTESSLYAHGYLKGTKGPGITGTKGDPTGAGP
EASLEPGADSVSMQAFSRAQPGAAPGIYQQSAEASSSQGTAANSQSYTIMSPAVLKSELQ
SPTHPSSALPPATSPTAQESYSQYPVPDVSTYQYDETSGYYYDPQTGLYYDPNSQYYYNA
QSQQYLYWDGERRTYVPAL
EQSADGHKETGAPSKEGKEKKEKHKTKTAQQIAKDMERWAR
SLNKQKENFKNSFQPISSLRDDERRESATADAGYAILEKKGALAERQHTSMDLPKLASDD
RPSPPRGLVAAYSGESDSEEEQERGGPEREEKLTDWQKLACLLCRRQFPSKEALIRHQQL
SGLHKQNLEIHRRAHLSENELEALEKNDMEQMKYRDRAAERREKYGIPEPPEPKRRKYGG
ISTASVDFEQPTRDGLGSDNIGSRMLQAMGWKEGSGLGRKKQGIVTPIEAQTRVRGSGLG
AR
GSSYGVTSTESYKETLHKTMVTRFNEAQ
Sequence length 930
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (6)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Malignant tumor of urinary bladder Likely pathogenic rs2147220533 RCV005932762
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma Pathogenic rs1131691421 RCV006254074
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Pathogenic rs1556772860 RCV002274404
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma Likely pathogenic; Pathogenic rs2147220533, rs1602582334 RCV005932763
RCV005906932
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Hearing impairment Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual disability Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (83)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 29085465
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28091594, 28586478, 30405763, 30483773, 30803556, 30955253
★★★★★
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 30803556
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 23673116
★★★★★
★☆☆☆☆
Found in Text Mining only
Athetoid cerebral palsy Athetoid cerebral palsy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 36944446 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16552754, 18820371, 21737612, 30803556
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18820371 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only