SPATC1 (spermatogenesis and centriole associated 1) - Rat Genome Database

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Gene: SPATC1 (spermatogenesis and centriole associated 1) Homo sapiens
Analyze
Symbol: SPATC1
Name: spermatogenesis and centriole associated 1
RGD ID: 1344287
HGNC Page HGNC
Description: Predicted to have gamma-tubulin binding activity. Localizes to centrosome; INTERACTS WITH benzo[a]pyrene; carbon nanotube; valproic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: MGC61633; SPATA15; speriolin; spermatogenesis and centriole-associated protein 1; spermatogenesis-associated protein 15; spermatogenic cell-specific Cdc20-binding protein; testicular tissue protein Li 181
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,012,280 - 144,047,114 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,010,992 - 144,047,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,086,448 - 145,102,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,158,595 - 145,174,003 (+)NCBINCBI36hg18NCBI36
Build 348145,158,594 - 145,174,002NCBI
Celera8141,422,681 - 141,430,005 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,342,636 - 140,377,833 (+)NCBIHuRef
CHM1_18145,126,831 - 145,142,275 (+)NCBICHM1_1
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

Cellular Component
centrosome  (IBA,IDA)
cytoplasm  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:15280373   PMID:16344560   PMID:20542897   PMID:21873635   PMID:29676528  


Genomics

Comparative Map Data
SPATC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,012,280 - 144,047,114 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,010,992 - 144,047,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,086,448 - 145,102,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,158,595 - 145,174,003 (+)NCBINCBI36hg18NCBI36
Build 348145,158,594 - 145,174,002NCBI
Celera8141,422,681 - 141,430,005 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,342,636 - 140,377,833 (+)NCBIHuRef
CHM1_18145,126,831 - 145,142,275 (+)NCBICHM1_1
Spatc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,150,731 - 76,176,777 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,152,289 - 76,176,772 (+)Ensembl
GRCm381576,266,531 - 76,292,577 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,268,089 - 76,292,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,098,519 - 76,123,002 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,095,344 - 76,119,827 (+)NCBImm8
Celera1577,768,036 - 77,792,708 (+)NCBICelera
Cytogenetic Map15D3NCBI
Spatc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,980,857 - 108,007,716 (+)NCBI
Rnor_6.0 Ensembl7117,326,279 - 117,349,957 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,326,279 - 117,349,957 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,312,037 - 117,335,715 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,299,064 - 114,322,742 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7104,336,499 - 104,360,177 (+)NCBICelera
Cytogenetic Map7q34NCBI
Spatc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,676,247 - 2,703,335 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,675,857 - 2,703,729 (+)NCBIChiLan1.0ChiLan1.0
SPATC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,770,675 - 143,805,457 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,770,675 - 143,808,015 (+)Ensemblpanpan1.1panPan2
SPATC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,530,211 - 37,550,797 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,494,093 - 37,514,726 (+)NCBI
ROS_Cfam_1.01338,006,679 - 38,027,312 (+)NCBI
UMICH_Zoey_3.11337,678,785 - 37,699,415 (+)NCBI
UNSW_CanFamBas_1.01337,806,990 - 37,827,590 (+)NCBI
UU_Cfam_GSD_1.01338,283,544 - 38,304,184 (+)NCBI
Spatc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303718,487 - 739,738 (-)NCBI
SpeTri2.0NW_0049364708,144,660 - 8,165,407 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPATC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4643,708 - 664,533 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14642,962 - 665,330 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24572,512 - 586,105 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPATC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,223,802 - 138,260,402 (+)NCBI
ChlSab1.1 Ensembl8138,224,033 - 138,260,330 (+)Ensembl
Spatc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,776,268 - 12,804,168 (-)NCBI

Position Markers
SHGC-82142  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera8141,425,199 - 141,425,529RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,367,540 - 140,367,870UniSTS
RH77878  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera8141,419,571 - 141,419,759RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,361,914 - 140,362,102UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:736
Count of miRNA genes:517
Interacting mature miRNAs:560
Transcripts:ENST00000377470, ENST00000447830
Prediction methods:Microtar, 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 1 104 127 4 350 13
Low 354 928 313 192 1489 171 321 161 486 102 217 629 24 303 155 1
Below cutoff 1900 1765 1280 407 240 269 3649 1847 3005 254 763 783 142 890 2383

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001134374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB092352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC206437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB052198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377470   ⟹   ENSP00000366690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,012,280 - 144,047,114 (+)Ensembl
RefSeq Acc Id: ENST00000447830   ⟹   ENSP00000387613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,012,426 - 144,047,025 (+)Ensembl
RefSeq Acc Id: NM_001134374   ⟹   NP_001127846
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,280 - 144,047,114 (+)NCBI
GRCh378145,086,582 - 145,102,015 (+)RGD
Celera8141,422,681 - 141,430,005 (+)RGD
HuRef8140,342,636 - 140,377,833 (+)ENTREZGENE
CHM1_18145,126,831 - 145,142,275 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198572   ⟹   NP_940974
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,280 - 144,047,114 (+)NCBI
GRCh378145,086,582 - 145,102,015 (+)RGD
Build 368145,158,595 - 145,174,003 (+)NCBI Archive
Celera8141,422,681 - 141,430,005 (+)RGD
HuRef8140,342,636 - 140,377,833 (+)ENTREZGENE
CHM1_18145,126,831 - 145,142,275 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517021   ⟹   XP_011515323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,414 - 144,047,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517022   ⟹   XP_011515324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,010,992 - 144,047,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517023   ⟹   XP_011515325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,023,859 - 144,047,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517024   ⟹   XP_011515326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,023,861 - 144,047,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517025   ⟹   XP_011515327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,016,910 - 144,047,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013399   ⟹   XP_016868888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,674 - 144,047,032 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928328
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,414 - 144,046,711 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928329
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,414 - 144,046,715 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_940974   ⟸   NM_198572
- Peptide Label: isoform 1
- UniProtKB: Q76KD6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001127846   ⟸   NM_001134374
- Peptide Label: isoform 2
- UniProtKB: Q76KD6 (UniProtKB/Swiss-Prot),   A0A140VJV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515324   ⟸   XM_011517022
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515323   ⟸   XM_011517021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515327   ⟸   XM_011517025
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515326   ⟸   XM_011517024
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515325   ⟸   XM_011517023
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868888   ⟸   XM_017013399
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000366690   ⟸   ENST00000377470
RefSeq Acc Id: ENSP00000387613   ⟸   ENST00000447830
Protein Domains
Speriolin_N

Promoters
RGD ID:7214413
Promoter ID:EPDNEW_H12953
Type:initiation region
Name:SPATC1_1
Description:spermatogenesis and centriole associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12954  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,229 - 144,012,289EPDNEW
RGD ID:7214415
Promoter ID:EPDNEW_H12954
Type:initiation region
Name:SPATC1_2
Description:spermatogenesis and centriole associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12953  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,012,433 - 144,012,493EPDNEW
RGD ID:6807048
Promoter ID:HG_KWN:62305
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001134374,   UC003ZAQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,158,236 - 145,158,736 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145101381-145120635)x3 copy number gain not provided [RCV000748004] Chr8:145101381..145120635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145128890)x3 copy number gain not provided [RCV000748005] Chr8:145101381..145128890 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145138094)x3 copy number gain not provided [RCV000748006] Chr8:145101381..145138094 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101585-145120635)x3 copy number gain not provided [RCV000748008] Chr8:145101585..145120635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_198572.3(SPATC1):c.1677G>A (p.Val559=) single nucleotide variant not provided [RCV000954182] Chr8:144046857 [GRCh38]
Chr8:145101758 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30510 AgrOrtholog
COSMIC SPATC1 COSMIC
Ensembl Genes ENSG00000186583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000366690 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387613 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377470 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000447830 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000186583 GTEx
HGNC ID HGNC:30510 ENTREZGENE
Human Proteome Map SPATC1 Human Proteome Map
InterPro SPATC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Speriolin_C UniProtKB/Swiss-Prot
  Speriolin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:375686 UniProtKB/Swiss-Prot
NCBI Gene 375686 ENTREZGENE
OMIM 610874 OMIM
PANTHER PTHR22192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Speriolin_C UniProtKB/Swiss-Prot
  Speriolin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134907641 PharmGKB
UniProt A0A140VJV4 ENTREZGENE, UniProtKB/TrEMBL
  Q76KD6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DWW9 UniProtKB/Swiss-Prot
  Q5U5I8 UniProtKB/Swiss-Prot
  Q7Z6L7 UniProtKB/Swiss-Prot