SPDYE18 (speedy/RINGO cell cycle regulator family member E18) - Rat Genome Database

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Gene: SPDYE18 (speedy/RINGO cell cycle regulator family member E18) Homo sapiens
Analyze
No known orthologs.
Symbol: SPDYE18
Name: speedy/RINGO cell cycle regulator family member E18
RGD ID: 9685821
HGNC Page HGNC:51514
Description: Predicted to enable protein kinase binding activity; INTERACTS WITH 2-hydroxypropanoic acid; acrylamide; rac-lactic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: putative speedy protein E16; putative speedy protein E7; Speedy protein E18
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38777,050,391 - 77,062,558 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl777,050,391 - 77,062,558 (-)EnsemblGRCh38hg38GRCh38
GRCh37776,679,708 - 76,691,875 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7q11.23NCBI
CHM1_1776,091,712 - 76,622,114 (-)NCBICHM1_1
T2T-CHM13v2.0778,301,438 - 78,313,660 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References
Additional References at PubMed
PMID:10737800   PMID:20379614  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3 copy number gain See cases [RCV000137450] Chr7:76440557..78180243 [GRCh38]
Chr7:76069874..77809560 [GRCh37]
Chr7:75907810..77647496 [NCBI36]
Chr7:7q11.23-21.11		 uncertain significance
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
NC_000007.14:g.(75058300_?)_(?_79083658)del deletion Distal 7q11.23 microdeletion syndrome [RCV001839073] Chr7:75058300..79083658 [GRCh38]
Chr7:7q11.23-21.11		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:391
Count of miRNA genes:201
Interacting mature miRNAs:207
Transcripts:ENST00000445314, ENST00000510091
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 4 19
Low 2122 1809 1433 378 933 226 3776 1449 2598 200 1243 1293 152 1085 2506
Below cutoff 252 1134 259 222 760 214 448 709 1075 187 131 242 16 118 279 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000510091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl777,050,391 - 77,062,558 (-)Ensembl
RefSeq Acc Id: NM_001351348   ⟹   NP_001338277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,052,733 - 77,060,881 (-)NCBI
T2T-CHM13v2.0778,303,780 - 78,311,941 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394953   ⟹   NP_001381882
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38777,050,391 - 77,062,558 (-)NCBI
T2T-CHM13v2.0778,301,438 - 78,313,660 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001338277 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381882 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000509550
  ENSP00000509550.1
GenBank Protein P0DV79 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001338277   ⟸   NM_001351348
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001381882   ⟸   NM_001394953
- Peptide Label: isoform 1
- UniProtKB: P0DV79 (UniProtKB/Swiss-Prot),   A0A8I5KS96 (UniProtKB/TrEMBL)


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:51514 AgrOrtholog
COSMIC SPDYE18 COSMIC
Ensembl Genes ENSG00000205482 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000510091 ENTREZGENE
  ENST00000510091.4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205482 GTEx
HGNC ID HGNC:51514 ENTREZGENE
Human Proteome Map SPDYE18 Human Proteome Map
InterPro Speedy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene SPDYE18 ENTREZGENE
PANTHER PTHR31156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPEEDY PROTEIN E10-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Spy1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KS96 ENTREZGENE, UniProtKB/TrEMBL
  P0DV79 ENTREZGENE, UniProtKB/Swiss-Prot