SSX8P (SSX family member 8, pseudogene) - Rat Genome Database

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Gene: SSX8P (SSX family member 8, pseudogene) Homo sapiens
Analyze
No known orthologs.
Symbol: SSX8P
Name: SSX family member 8, pseudogene
RGD ID: 1348093
HGNC Page HGNC:19654
Description: Predicted to be involved in regulation of DNA-templated transcription. Predicted to be active in nucleus.
Type: pseudo (Ensembl: transcribed_unprocessed_pseudogene)
RefSeq Status: VALIDATED
Previously known as: SSX family member 8; SSX8; synovial sarcoma, X breakpoint 8
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Related Functional Gene: SSX1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X52,622,935 - 52,633,948 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX52,624,998 - 52,632,891 (+)EnsemblGRCh38hg38GRCh38
GRCh37X52,651,985 - 52,662,998 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,670,773 - 52,679,723 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X52,535,198 - 52,546,019NCBI
CeleraX56,446,181 - 56,457,188 (-)NCBICelera
Cytogenetic MapXp11.22NCBI
HuRefX49,779,474 - 49,790,397 (+)NCBIHuRef
CHM1_1X52,642,139 - 52,653,152 (+)NCBICHM1_1
T2T-CHM13v2.0X51,907,749 - 51,918,757 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
nucleus  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12216073   PMID:15772651   PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:434
Count of miRNA genes:383
Interacting mature miRNAs:403
Transcripts:ENST00000414360, ENST00000454586, ENST00000506270
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
High
Medium 2 3 2
Low 2 37 9 10 9 5 6 5 3 296 33
Below cutoff 106 68 258 32 66 30 179 65 95 20 176 291 3 27 108

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000506270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,624,998 - 52,632,891 (+)Ensembl
RefSeq Acc Id: ENST00000674606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,622,935 - 52,630,407 (+)Ensembl
RefSeq Acc Id: ENST00000675258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX52,623,128 - 52,633,948 (+)Ensembl
RefSeq Acc Id: NR_027250
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,622,935 - 52,633,948 (+)NCBI
GRCh37X52,651,985 - 52,662,998 (+)RGD
CeleraX56,446,181 - 56,457,188 (-)RGD
HuRefX49,779,474 - 49,790,397 (+)ENTREZGENE
CHM1_1X52,642,139 - 52,653,152 (+)NCBI
T2T-CHM13v2.0X51,907,749 - 51,918,757 (+)NCBI
Sequence:
Reference Protein Sequences
Protein Domains
KRAB-related

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7RTT4-F1-model_v2 AlphaFold Q7RTT4 1-187 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19654 AgrOrtholog
COSMIC SSX8P COSMIC
Ensembl Genes ENSG00000157965 Ensembl
  ENSG00000290686 ENTREZGENE
Ensembl Transcript ENST00000675258 ENTREZGENE
GTEx ENSG00000157965 GTEx
  ENSG00000290686 GTEx
HGNC ID HGNC:19654 ENTREZGENE
Human Proteome Map SSX8P Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot
  KRAB_dom_sf UniProtKB/Swiss-Prot
  Krueppel-associated_box-rel UniProtKB/Swiss-Prot
  SSXRD_motif UniProtKB/Swiss-Prot
NCBI Gene 280659 ENTREZGENE
OMIM 300543 OMIM
PANTHER PROTEIN SSX6-RELATED UniProtKB/Swiss-Prot
  PTHR14112 UniProtKB/Swiss-Prot
Pfam SSXRD UniProtKB/Swiss-Prot
PROSITE KRAB_RELATED UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot
UniProt Q7RTT4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NJM6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-29 SSX8P  SSX family member 8, pseudogene  SSX8    Symbol and/or name change 5135510 APPROVED
2017-01-24 SSX8  SSX family member 8, pseudogene    SSX family member 8  Symbol and/or name change 5135510 APPROVED
2016-05-31 SSX8  SSX family member 8    synovial sarcoma, X breakpoint 8  Symbol and/or name change 5135510 APPROVED