SPATC1L (spermatogenesis and centriole associated 1 like) - Rat Genome Database
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Gene: SPATC1L (spermatogenesis and centriole associated 1 like) Homo sapiens
Analyze
Symbol: SPATC1L
Name: spermatogenesis and centriole associated 1 like
RGD ID: 1344058
Description: Exhibits identical protein binding activity. Predicted to be involved in positive regulation of protein phosphorylation. Predicted to localize to centrosome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C21orf56; DKFZp434N0650; hypothetical protein LOC84221; MGC99490; speriolin-like protein; spermatogenesis and centriole associated 1-like; spermatogenesis and centriole-associated protein 1-like protein; uncharacterized protein C21orf56
Orthologs:
Mus musculus (house mouse) : Spatc1l (spermatogenesis and centriole associated 1 like)  MGI  Alliance
Rattus norvegicus (Norway rat) : LOC108348157 (speriolin-like protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Spatc1l (spermatogenesis and centriole associated 1 like)
Pan paniscus (bonobo/pygmy chimpanzee) : SPATC1L (spermatogenesis and centriole associated 1 like)
Canis lupus familiaris (dog) : SPATC1L (spermatogenesis and centriole associated 1 like)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Spatc1l (spermatogenesis and centriole associated 1 like)
Sus scrofa (pig) : SPATC1L (spermatogenesis and centriole associated 1 like)
Chlorocebus sabaeus (African green monkey) : SPATC1L (spermatogenesis and centriole associated 1 like)
Heterocephalus glaber (naked mole-rat) : Spatc1l (spermatogenesis and centriole associated 1 like)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,161,148 - 46,184,476 (-)EnsemblGRCh38hg38GRCh38
GRCh382146,161,148 - 46,185,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,581,062 - 47,605,167 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,405,498 - 46,428,729 (-)NCBINCBI36hg18NCBI36
Build 342146,405,497 - 46,428,729NCBI
Celera2132,693,446 - 32,716,761 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,963,847 - 32,985,837 (-)NCBIHuRef
CHM1_12147,141,961 - 47,163,904 (-)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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:10830953   PMID:11076863   PMID:11230166   PMID:12477932   PMID:15231747   PMID:15489334   PMID:15489336   PMID:16381901   PMID:21382349   PMID:21516116   PMID:21873635   PMID:25416956  
PMID:26186194   PMID:28065597   PMID:28339009   PMID:28849223   PMID:30026308   PMID:30177775   PMID:31452512   PMID:32296183  


Genomics

Comparative Map Data
SPATC1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,161,148 - 46,184,476 (-)EnsemblGRCh38hg38GRCh38
GRCh382146,161,148 - 46,185,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,581,062 - 47,605,167 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,405,498 - 46,428,729 (-)NCBINCBI36hg18NCBI36
Build 342146,405,497 - 46,428,729NCBI
Celera2132,693,446 - 32,716,761 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,963,847 - 32,985,837 (-)NCBIHuRef
CHM1_12147,141,961 - 47,163,904 (-)NCBICHM1_1
Spatc1l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,394,180 - 76,406,035 (+)NCBI
GRCm381076,561,993 - 76,570,201 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,562,272 - 76,570,201 (+)EnsemblGRCm38mm10GRCm38
MGSCv371076,025,017 - 76,032,945 (+)NCBIGRCm37mm9NCBIm37
MGSCv361076,005,988 - 76,013,916 (+)NCBImm8
Celera1077,606,787 - 77,614,715 (+)NCBICelera
Cytogenetic Map10C1NCBI
LOC108348157
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02013,164,610 - 13,173,791 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2013,164,628 - 13,173,774 (-)EnsemblRnor6.0rn6Rnor6.0
Cytogenetic Map20p12NCBI
Spatc1l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,620,679 - 42,629,350 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,621,167 - 42,629,350 (-)NCBIChiLan1.0ChiLan1.0
SPATC1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,759,213 - 45,781,421 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,759,213 - 45,780,611 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02132,506,630 - 32,528,978 (-)NCBI
SPATC1L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,459,176 - 39,475,074 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,467,365 - 39,475,061 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Spatc1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778354,424 - 369,473 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPATC1L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.213218,494,437 - 218,512,240 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPATC1L
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl289,782,182 - 89,803,593 (-)Ensembl
ChlSab1.1289,781,950 - 89,805,927 (-)NCBI
Spatc1l
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
SHGC-107520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,599,584 - 47,599,933UniSTSGRCh37
Build 362146,424,012 - 46,424,361RGDNCBI36
Celera2132,711,972 - 32,712,321RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,981,048 - 32,981,397UniSTS
TNG Radiation Hybrid Map2119903.0UniSTS
SHGC-147567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,588,272 - 47,588,604UniSTSGRCh37
Build 362146,412,700 - 46,413,032RGDNCBI36
Celera2132,700,655 - 32,700,987RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,970,815 - 32,971,147UniSTS
TNG Radiation Hybrid Map2119895.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR625hsa-miR-625-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:732
Count of miRNA genes:339
Interacting mature miRNAs:359
Transcripts:ENST00000291672, ENST00000330205
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 690 455 682 56 524 49 1333 322 1887 94 1152 496 14 1 230 748 1 2
Low 1671 2395 833 396 1331 245 2843 1779 1830 303 286 1052 158 936 1907 5
Below cutoff 63 140 207 171 89 170 170 89 15 19 12 56 1 37 124

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC226155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW138006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000291672   ⟹   ENSP00000291672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,161,160 - 46,184,459 (-)Ensembl
RefSeq Acc Id: ENST00000330205   ⟹   ENSP00000333869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,161,148 - 46,184,476 (-)Ensembl
RefSeq Acc Id: NM_001142854   ⟹   NP_001136326
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,161,160 - 46,184,459 (-)NCBI
GRCh372147,581,062 - 47,605,167 (-)NCBI
Celera2132,693,446 - 32,716,761 (-)RGD
HuRef2132,963,847 - 32,985,837 (-)NCBI
CHM1_12147,141,961 - 47,163,904 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032261   ⟹   NP_115637
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,161,160 - 46,184,459 (-)NCBI
GRCh372147,581,062 - 47,605,167 (-)NCBI
Build 362146,405,498 - 46,428,729 (-)NCBI Archive
Celera2132,693,446 - 32,716,761 (-)RGD
HuRef2132,963,847 - 32,985,837 (-)NCBI
CHM1_12147,141,961 - 47,163,904 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261188   ⟹   XP_005261245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,161,148 - 46,185,163 (-)NCBI
GRCh372147,581,062 - 47,605,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529756   ⟹   XP_011528058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,161,148 - 46,162,589 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028480   ⟹   XP_016883969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,161,148 - 46,185,163 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115637   ⟸   NM_032261
- Peptide Label: isoform 2
- UniProtKB: Q9H0A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001136326   ⟸   NM_001142854
- Peptide Label: isoform 1
- UniProtKB: Q9H0A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261245   ⟸   XM_005261188
- Peptide Label: isoform X1
- UniProtKB: Q9H0A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528058   ⟸   XM_011529756
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016883969   ⟸   XM_017028480
- Peptide Label: isoform X1
- UniProtKB: Q9H0A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000291672   ⟸   ENST00000291672
RefSeq Acc Id: ENSP00000333869   ⟸   ENST00000330205

Promoters
RGD ID:13603082
Promoter ID:EPDNEW_H27725
Type:single initiation site
Name:SPATC1L_2
Description:spermatogenesis and centriole associated 1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27726  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,173,966 - 46,174,026EPDNEW
RGD ID:13603084
Promoter ID:EPDNEW_H27726
Type:initiation region
Name:SPATC1L_1
Description:spermatogenesis and centriole associated 1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27725  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,184,450 - 46,184,510EPDNEW
RGD ID:6799331
Promoter ID:HG_KWN:41291
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142854,   OTTHUMT00000206958
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,428,751 - 46,429,687 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001142854.1(SPATC1L):c.650G>A (p.Arg217Gln) single nucleotide variant Malignant melanoma [RCV000063860] Chr21:46161962 [GRCh38]
Chr21:47581876 [GRCh37]
Chr21:46406304 [NCBI36]
Chr21:21q22.3
not provided
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001142854.2(SPATC1L):c.577G>A (p.Ala193Thr) single nucleotide variant not specified [RCV000454732] Chr21:46162035 [GRCh38]
Chr21:47581949 [GRCh37]
Chr21:21q22.3
benign
NM_001142854.2(SPATC1L):c.893G>A (p.Ser298Asn) single nucleotide variant not specified [RCV000455147] Chr21:46161509 [GRCh38]
Chr21:47581423 [GRCh37]
Chr21:21q22.3
benign
NM_001142854.2(SPATC1L):c.691G>A (p.Glu231Lys) single nucleotide variant not specified [RCV000455748] Chr21:46161921 [GRCh38]
Chr21:47581835 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x4 copy number gain See cases [RCV000511854] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x3 copy number gain See cases [RCV000512553] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47558501-47581961)x3 copy number gain not provided [RCV000741653] Chr21:47558501..47581961 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47610085)x1 copy number loss not provided [RCV000741654] Chr21:47589136..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47610305)x1 copy number loss not provided [RCV000741655] Chr21:47589136..47610305 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47610415)x1 copy number loss not provided [RCV000741656] Chr21:47589136..47610415 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589136-47657673)x1 copy number loss not provided [RCV000741657] Chr21:47589136..47657673 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589156-47610305)x1 copy number loss not provided [RCV000741658] Chr21:47589156..47610305 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47610066)x1 copy number loss not provided [RCV000741659] Chr21:47589277..47610066 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47610085)x1 copy number loss not provided [RCV000741660] Chr21:47589277..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47658301)x1 copy number loss not provided [RCV000741661] Chr21:47589277..47658301 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589429-47610085)x1 copy number loss not provided [RCV000741662] Chr21:47589429..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589581-47610085)x1 copy number loss not provided [RCV000741663] Chr21:47589581..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589826-47681041)x1 copy number loss not provided [RCV000741664] Chr21:47589826..47681041 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603387-47610085)x1 copy number loss not provided [RCV000741665] Chr21:47603387..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603387-47658404)x1 copy number loss not provided [RCV000741666] Chr21:47603387..47658404 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603423-47610085)x1 copy number loss not provided [RCV000741667] Chr21:47603423..47610085 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_001142854.2(SPATC1L):c.808G>T (p.Val270Leu) single nucleotide variant not provided [RCV000948106] Chr21:46161594 [GRCh38]
Chr21:47581508 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001142854.2(SPATC1L):c.846C>G (p.Tyr282Ter) single nucleotide variant not provided [RCV001003431] Chr21:46161556 [GRCh38]
Chr21:47581470 [GRCh37]
Chr21:21q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1298 AgrOrtholog
COSMIC SPATC1L COSMIC
Ensembl Genes ENSG00000160284 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000274679 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000291672 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000333869 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478124 UniProtKB/Swiss-Prot
  ENSP00000483544 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000291672 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000330205 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618495 UniProtKB/Swiss-Prot
  ENST00000621926 UniProtKB/Swiss-Prot
GTEx ENSG00000160284 GTEx
  ENSG00000274679 GTEx
HGNC ID HGNC:1298 ENTREZGENE
Human Proteome Map SPATC1L Human Proteome Map
InterPro SPATC1 UniProtKB/Swiss-Prot
  Speriolin_C UniProtKB/Swiss-Prot
  Speriolin_N UniProtKB/Swiss-Prot
KEGG Report hsa:84221 UniProtKB/Swiss-Prot
NCBI Gene 84221 ENTREZGENE
OMIM 612412 OMIM
PANTHER PTHR22192 UniProtKB/Swiss-Prot
Pfam Speriolin_C UniProtKB/Swiss-Prot
  Speriolin_N UniProtKB/Swiss-Prot
PharmGKB PA25851 PharmGKB
UniGene Hs.381214 ENTREZGENE
UniProt Q9H0A9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E323 UniProtKB/Swiss-Prot
  Q52LS9 UniProtKB/Swiss-Prot
  Q6FIH5 UniProtKB/Swiss-Prot
  Q6P0L3 UniProtKB/Swiss-Prot
  Q9NSE5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-17 SPATC1L  spermatogenesis and centriole associated 1 like    spermatogenesis and centriole associated 1-like  Symbol and/or name change 5135510 APPROVED
2012-11-15 SPATC1L  spermatogenesis and centriole associated 1-like  C21orf56  chromosome 21 open reading frame 56  Symbol and/or name change 5135510 APPROVED

 



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