SPIN3 (spindlin family member 3) - Rat Genome Database

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Gene: SPIN3 (spindlin family member 3) Homo sapiens
Analyze
Symbol: SPIN3
Name: spindlin family member 3
RGD ID: 1604513
HGNC Page HGNC
Description: Exhibits methylated histone binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to localize to cytosol and nucleoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; butanal.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bA445O16.1; bA445O16.1 (DXF34); FLJ41127; FLJ54952; MGC40395; SPIN-3; spindlin family, member 3; spindlin-3; spindlin-like protein 3; TDRD27
RGD Orthologs
Bonobo
Pig
Green Monkey
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 EnsemblX56,818,298 - 56,995,827 (-)EnsemblGRCh38hg38GRCh38
GRCh38X56,975,120 - 56,995,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X57,001,553 - 57,021,974 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X57,033,989 - 57,038,713 (-)NCBINCBI36hg18NCBI36
CeleraX60,856,938 - 60,876,122 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX54,066,416 - 54,085,753 (-)NCBIHuRef
CHM1_1X56,992,922 - 57,012,107 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16344560   PMID:17620599   PMID:18029348   PMID:19322201   PMID:21873635   PMID:22952844   PMID:26186194   PMID:27591049  
PMID:28302793   PMID:28514442   PMID:29061846   PMID:30021884   PMID:31586073   PMID:32203420  


Genomics

Comparative Map Data
SPIN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX56,818,298 - 56,995,827 (-)EnsemblGRCh38hg38GRCh38
GRCh38X56,975,120 - 56,995,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X57,001,553 - 57,021,974 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X57,033,989 - 57,038,713 (-)NCBINCBI36hg18NCBI36
CeleraX60,856,938 - 60,876,122 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX54,066,416 - 54,085,753 (-)NCBIHuRef
CHM1_1X56,992,922 - 57,012,107 (-)NCBICHM1_1
SPIN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X57,402,246 - 57,421,531 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X49,238,240 - 49,258,884 (-)NCBIMhudiblu_PPA_v0panPan3
SPIN3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX49,351,720 - 49,496,204 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X49,351,952 - 49,356,901 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X55,497,677 - 55,501,252 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPIN3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X52,762,970 - 52,782,317 (-)NCBI
ChlSab1.1 EnsemblX52,780,705 - 52,781,481 (-)Ensembl
Vero_WHO_p1.0NW_0236660866,882,942 - 6,918,995 (-)NCBI

Position Markers
WI-21136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X57,017,306 - 57,017,575UniSTSGRCh37
Build 36X57,034,031 - 57,034,300RGDNCBI36
CeleraX60,871,441 - 60,871,709RGD
Cytogenetic MapXp11.21UniSTS
GeneMap99-GB4 RH MapX198.94UniSTS
Whitehead-RH MapX115.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1189
Count of miRNA genes:597
Interacting mature miRNAs:660
Transcripts:ENST00000374919, ENST00000475785, ENST00000478405
Prediction methods:Miranda, Pita, 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 61 1 34 15 123 16 264 19 539 26 116 92 3 78 1
Low 2354 2253 1685 604 1068 444 4027 2013 3170 390 1341 1507 168 1 1203 2649 4 2
Below cutoff 3 737 6 4 668 4 65 161 23 3 3 6 1 61 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001010862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ271379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX403408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB151976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374919   ⟹   ENSP00000364054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,831 - 56,995,541 (-)Ensembl
RefSeq Acc Id: ENST00000475785   ⟹   ENSP00000436805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,439 - 56,995,527 (-)Ensembl
RefSeq Acc Id: ENST00000478405   ⟹   ENSP00000433337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,382 - 56,995,525 (-)Ensembl
RefSeq Acc Id: ENST00000638257   ⟹   ENSP00000492795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,863 - 56,995,806 (-)Ensembl
RefSeq Acc Id: ENST00000638289   ⟹   ENSP00000491751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,942 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000638341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,977,064 - 56,984,466 (-)Ensembl
RefSeq Acc Id: ENST00000638386   ⟹   ENSP00000491624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,895 - 56,995,647 (-)Ensembl
RefSeq Acc Id: ENST00000638481   ⟹   ENSP00000491780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,991,118 - 56,995,496 (-)Ensembl
RefSeq Acc Id: ENST00000638619   ⟹   ENSP00000492429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,994,362 - 56,995,495 (-)Ensembl
RefSeq Acc Id: ENST00000638664   ⟹   ENSP00000492829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,973,196 - 56,995,530 (-)Ensembl
RefSeq Acc Id: ENST00000638712   ⟹   ENSP00000492344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,864 - 56,995,827 (-)Ensembl
RefSeq Acc Id: ENST00000638819   ⟹   ENSP00000491334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,553 (-)Ensembl
RefSeq Acc Id: ENST00000638834   ⟹   ENSP00000492685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,977,089 - 56,995,381 (-)Ensembl
RefSeq Acc Id: ENST00000638845   ⟹   ENSP00000492289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,956 - 56,995,268 (-)Ensembl
RefSeq Acc Id: ENST00000638873   ⟹   ENSP00000492648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,730 (-)Ensembl
RefSeq Acc Id: ENST00000638940   ⟹   ENSP00000491878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,402 - 56,995,494 (-)Ensembl
RefSeq Acc Id: ENST00000639000   ⟹   ENSP00000491947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,977,315 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639007   ⟹   ENSP00000492381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,946 - 56,995,553 (-)Ensembl
RefSeq Acc Id: ENST00000639053   ⟹   ENSP00000491667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,422 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639257   ⟹   ENSP00000492259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,977,024 - 56,995,493 (-)Ensembl
RefSeq Acc Id: ENST00000639418   ⟹   ENSP00000491050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,423 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639482   ⟹   ENSP00000491221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,671 - 56,995,530 (-)Ensembl
RefSeq Acc Id: ENST00000639525   ⟹   ENSP00000492102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,991,003 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639583   ⟹   ENSP00000491397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,906 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639605   ⟹   ENSP00000491179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,991,565 - 56,995,364 (-)Ensembl
RefSeq Acc Id: ENST00000639607   ⟹   ENSP00000492130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,516 (-)Ensembl
RefSeq Acc Id: ENST00000639791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,977,479 - 56,980,463 (-)Ensembl
RefSeq Acc Id: ENST00000639794   ⟹   ENSP00000491103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,770 - 56,995,533 (-)Ensembl
RefSeq Acc Id: ENST00000639809   ⟹   ENSP00000491646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,974,495 - 56,995,349 (-)Ensembl
RefSeq Acc Id: ENST00000639888   ⟹   ENSP00000491629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639895   ⟹   ENSP00000491610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000639956   ⟹   ENSP00000491098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,533 (-)Ensembl
RefSeq Acc Id: ENST00000640039   ⟹   ENSP00000491607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,977,064 - 56,995,541 (-)Ensembl
RefSeq Acc Id: ENST00000640101   ⟹   ENSP00000492502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,818,298 - 56,995,551 (-)Ensembl
RefSeq Acc Id: ENST00000640104   ⟹   ENSP00000491400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,422 - 56,995,535 (-)Ensembl
RefSeq Acc Id: ENST00000640131   ⟹   ENSP00000491666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,120 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000640187   ⟹   ENSP00000492486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,402 - 56,995,507 (-)Ensembl
RefSeq Acc Id: ENST00000640421   ⟹   ENSP00000491130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,431 - 56,995,545 (-)Ensembl
RefSeq Acc Id: ENST00000640463   ⟹   ENSP00000491882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000640507   ⟹   ENSP00000492445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,976,850 - 56,995,517 (-)Ensembl
RefSeq Acc Id: ENST00000640511   ⟹   ENSP00000491321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,142 - 56,995,555 (-)Ensembl
RefSeq Acc Id: ENST00000640577   ⟹   ENSP00000492824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,973,435 - 56,995,542 (-)Ensembl
RefSeq Acc Id: ENST00000640717   ⟹   ENSP00000491217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,975,141 - 56,995,515 (-)Ensembl
RefSeq Acc Id: ENST00000640728   ⟹   ENSP00000492383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,981,514 - 56,995,539 (-)Ensembl
RefSeq Acc Id: ENST00000640768   ⟹   ENSP00000491519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,990,954 - 56,995,426 (-)Ensembl
RefSeq Acc Id: NM_001010862   ⟹   NP_001010862
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,990,831 - 56,995,541 (-)NCBI
GRCh37X57,002,803 - 57,021,988 (-)RGD
Build 36X57,033,989 - 57,038,713 (-)NCBI Archive
CeleraX60,856,938 - 60,876,122 (-)RGD
HuRefX54,066,416 - 54,085,753 (-)ENTREZGENE
CHM1_1X57,007,383 - 57,012,107 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027139
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,975,120 - 56,995,541 (-)NCBI
GRCh37X57,002,803 - 57,021,988 (-)RGD
CeleraX60,856,938 - 60,876,122 (-)RGD
HuRefX54,066,416 - 54,085,753 (-)ENTREZGENE
CHM1_1X56,992,922 - 57,012,107 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724577   ⟹   XP_006724640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,990,831 - 56,995,642 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724578   ⟹   XP_006724641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,990,831 - 56,995,588 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029315   ⟹   XP_016884804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,990,831 - 56,995,801 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001010862   ⟸   NM_001010862
- UniProtKB: Q5JUX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724641   ⟸   XM_006724578
- Peptide Label: isoform X1
- UniProtKB: Q5JUX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724640   ⟸   XM_006724577
- Peptide Label: isoform X1
- UniProtKB: Q5JUX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884804   ⟸   XM_017029315
- Peptide Label: isoform X1
- UniProtKB: Q5JUX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000433337   ⟸   ENST00000478405
RefSeq Acc Id: ENSP00000492289   ⟸   ENST00000638845
RefSeq Acc Id: ENSP00000492685   ⟸   ENST00000638834
RefSeq Acc Id: ENSP00000491334   ⟸   ENST00000638819
RefSeq Acc Id: ENSP00000492648   ⟸   ENST00000638873
RefSeq Acc Id: ENSP00000492344   ⟸   ENST00000638712
RefSeq Acc Id: ENSP00000492429   ⟸   ENST00000638619
RefSeq Acc Id: ENSP00000492829   ⟸   ENST00000638664
RefSeq Acc Id: ENSP00000491780   ⟸   ENST00000638481
RefSeq Acc Id: ENSP00000491878   ⟸   ENST00000638940
RefSeq Acc Id: ENSP00000364054   ⟸   ENST00000374919
RefSeq Acc Id: ENSP00000491624   ⟸   ENST00000638386
RefSeq Acc Id: ENSP00000492795   ⟸   ENST00000638257
RefSeq Acc Id: ENSP00000491751   ⟸   ENST00000638289
RefSeq Acc Id: ENSP00000491098   ⟸   ENST00000639956
RefSeq Acc Id: ENSP00000491646   ⟸   ENST00000639809
RefSeq Acc Id: ENSP00000491629   ⟸   ENST00000639888
RefSeq Acc Id: ENSP00000491610   ⟸   ENST00000639895
RefSeq Acc Id: ENSP00000491103   ⟸   ENST00000639794
RefSeq Acc Id: ENSP00000492259   ⟸   ENST00000639257
RefSeq Acc Id: ENSP00000492381   ⟸   ENST00000639007
RefSeq Acc Id: ENSP00000491947   ⟸   ENST00000639000
RefSeq Acc Id: ENSP00000491667   ⟸   ENST00000639053
RefSeq Acc Id: ENSP00000492130   ⟸   ENST00000639607
RefSeq Acc Id: ENSP00000491179   ⟸   ENST00000639605
RefSeq Acc Id: ENSP00000491397   ⟸   ENST00000639583
RefSeq Acc Id: ENSP00000492102   ⟸   ENST00000639525
RefSeq Acc Id: ENSP00000491221   ⟸   ENST00000639482
RefSeq Acc Id: ENSP00000491050   ⟸   ENST00000639418
RefSeq Acc Id: ENSP00000492502   ⟸   ENST00000640101
RefSeq Acc Id: ENSP00000491400   ⟸   ENST00000640104
RefSeq Acc Id: ENSP00000491666   ⟸   ENST00000640131
RefSeq Acc Id: ENSP00000492486   ⟸   ENST00000640187
RefSeq Acc Id: ENSP00000491607   ⟸   ENST00000640039
RefSeq Acc Id: ENSP00000492383   ⟸   ENST00000640728
RefSeq Acc Id: ENSP00000491217   ⟸   ENST00000640717
RefSeq Acc Id: ENSP00000491519   ⟸   ENST00000640768
RefSeq Acc Id: ENSP00000492824   ⟸   ENST00000640577
RefSeq Acc Id: ENSP00000491321   ⟸   ENST00000640511
RefSeq Acc Id: ENSP00000492445   ⟸   ENST00000640507
RefSeq Acc Id: ENSP00000491130   ⟸   ENST00000640421
RefSeq Acc Id: ENSP00000491882   ⟸   ENST00000640463
RefSeq Acc Id: ENSP00000436805   ⟸   ENST00000475785

Promoters
RGD ID:13605472
Promoter ID:EPDNEW_H28918
Type:initiation region
Name:SPIN3_1
Description:spindlin family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28919  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,995,540 - 56,995,600EPDNEW
RGD ID:13605474
Promoter ID:EPDNEW_H28919
Type:initiation region
Name:SPIN3_2
Description:spindlin family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28918  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,995,874 - 56,995,934EPDNEW
RGD ID:6808782
Promoter ID:HG_KWN:67015
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000374915,   NM_001010862,   NR_027139,   OTTHUMT00000056907,   UC004DUV.2,   UC010NKJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X57,038,416 - 57,038,917 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
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:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2 copy number gain See cases [RCV000052414] ChrX:55895084..65038751 [GRCh38]
ChrX:55921517..64258631 [GRCh37]
ChrX:55938242..64175356 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
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:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
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
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp11.21(chrX:56862562-57905327)x1 copy number loss See cases [RCV000136879] ChrX:56862562..57905327 [GRCh38]
ChrX:56888995..57931761 [GRCh37]
ChrX:56905720..57948486 [NCBI36]
ChrX:Xp11.21
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 copy number gain See cases [RCV000137371] ChrX:56127875..63867853 [GRCh38]
ChrX:56154308..63087733 [GRCh37]
ChrX:56171033..63004458 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.21(chrX:56041093-57333244)x2 copy number gain See cases [RCV000141695] ChrX:56041093..57333244 [GRCh38]
ChrX:56067526..57359677 [GRCh37]
ChrX:56084251..57376402 [NCBI36]
ChrX:Xp11.21
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp11.21-q11.1(chrX:56457791-62348148)x3 copy number gain See cases [RCV000511839] ChrX:56457791..62348148 [GRCh37]
ChrX:Xp11.21-q11.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21(chrX:56488503-57276424) copy number gain Global developmental delay [RCV000626550] ChrX:56488503..57276424 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.21(chrX:56457791-57976114)x2 copy number gain not provided [RCV000849391] ChrX:56457791..57976114 [GRCh37]
ChrX:Xp11.21
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27272 AgrOrtholog
COSMIC SPIN3 COSMIC
Ensembl Genes ENSG00000204271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000364054 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433337 UniProtKB/Swiss-Prot
  ENSP00000436805 UniProtKB/Swiss-Prot
  ENSP00000491050 UniProtKB/Swiss-Prot
  ENSP00000491098 UniProtKB/Swiss-Prot
  ENSP00000491103 UniProtKB/Swiss-Prot
  ENSP00000491130 UniProtKB/Swiss-Prot
  ENSP00000491179 UniProtKB/Swiss-Prot
  ENSP00000491217 UniProtKB/Swiss-Prot
  ENSP00000491221 UniProtKB/Swiss-Prot
  ENSP00000491321 UniProtKB/Swiss-Prot
  ENSP00000491334 UniProtKB/Swiss-Prot
  ENSP00000491397 UniProtKB/TrEMBL
  ENSP00000491400 UniProtKB/Swiss-Prot
  ENSP00000491519 UniProtKB/TrEMBL
  ENSP00000491607 UniProtKB/Swiss-Prot
  ENSP00000491610 UniProtKB/Swiss-Prot
  ENSP00000491624 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491629 UniProtKB/Swiss-Prot
  ENSP00000491646 UniProtKB/Swiss-Prot
  ENSP00000491666 UniProtKB/Swiss-Prot
  ENSP00000491667 UniProtKB/Swiss-Prot
  ENSP00000491751 UniProtKB/Swiss-Prot
  ENSP00000491780 UniProtKB/TrEMBL
  ENSP00000491878 UniProtKB/Swiss-Prot
  ENSP00000491882 UniProtKB/Swiss-Prot
  ENSP00000491947 UniProtKB/Swiss-Prot
  ENSP00000492102 UniProtKB/TrEMBL
  ENSP00000492130 UniProtKB/Swiss-Prot
  ENSP00000492259 UniProtKB/Swiss-Prot
  ENSP00000492289 UniProtKB/TrEMBL
  ENSP00000492344 UniProtKB/Swiss-Prot
  ENSP00000492381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000492383 UniProtKB/Swiss-Prot
  ENSP00000492429 UniProtKB/TrEMBL
  ENSP00000492445 UniProtKB/Swiss-Prot
  ENSP00000492486 UniProtKB/Swiss-Prot
  ENSP00000492502 UniProtKB/Swiss-Prot
  ENSP00000492648 UniProtKB/Swiss-Prot
  ENSP00000492685 UniProtKB/Swiss-Prot
  ENSP00000492795 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000492824 UniProtKB/Swiss-Prot
  ENSP00000492829 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374919 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000475785 UniProtKB/Swiss-Prot
  ENST00000478405 UniProtKB/Swiss-Prot
  ENST00000638257 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638289 UniProtKB/Swiss-Prot
  ENST00000638386 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638481 UniProtKB/TrEMBL
  ENST00000638619 UniProtKB/TrEMBL
  ENST00000638664 UniProtKB/Swiss-Prot
  ENST00000638712 UniProtKB/Swiss-Prot
  ENST00000638819 UniProtKB/Swiss-Prot
  ENST00000638834 UniProtKB/Swiss-Prot
  ENST00000638845 UniProtKB/TrEMBL
  ENST00000638873 UniProtKB/Swiss-Prot
  ENST00000638940 UniProtKB/Swiss-Prot
  ENST00000639000 UniProtKB/Swiss-Prot
  ENST00000639007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000639053 UniProtKB/Swiss-Prot
  ENST00000639257 UniProtKB/Swiss-Prot
  ENST00000639418 UniProtKB/Swiss-Prot
  ENST00000639482 UniProtKB/Swiss-Prot
  ENST00000639525 UniProtKB/TrEMBL
  ENST00000639583 UniProtKB/TrEMBL
  ENST00000639605 UniProtKB/Swiss-Prot
  ENST00000639607 UniProtKB/Swiss-Prot
  ENST00000639794 UniProtKB/Swiss-Prot
  ENST00000639809 UniProtKB/Swiss-Prot
  ENST00000639888 UniProtKB/Swiss-Prot
  ENST00000639895 UniProtKB/Swiss-Prot
  ENST00000639956 UniProtKB/Swiss-Prot
  ENST00000640039 UniProtKB/Swiss-Prot
  ENST00000640101 UniProtKB/Swiss-Prot
  ENST00000640104 UniProtKB/Swiss-Prot
  ENST00000640131 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000640187 UniProtKB/Swiss-Prot
  ENST00000640421 UniProtKB/Swiss-Prot
  ENST00000640463 UniProtKB/Swiss-Prot
  ENST00000640507 UniProtKB/Swiss-Prot
  ENST00000640511 UniProtKB/Swiss-Prot
  ENST00000640577 UniProtKB/Swiss-Prot
  ENST00000640717 UniProtKB/Swiss-Prot
  ENST00000640728 UniProtKB/Swiss-Prot
  ENST00000640768 UniProtKB/TrEMBL
Gene3D-CATH 2.80.10.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204271 GTEx
HGNC ID HGNC:27272 ENTREZGENE
Human Proteome Map SPIN3 Human Proteome Map
InterPro SPIN/Ssty UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPIN/Ssty_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spindlin-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:169981 UniProtKB/Swiss-Prot
NCBI Gene 169981 ENTREZGENE
PANTHER PTHR10405 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10405:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Spin-Ssty UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134909757 PharmGKB
UniProt A0A1W2PPF7_HUMAN UniProtKB/TrEMBL
  A0A1W2PPL1_HUMAN UniProtKB/TrEMBL
  A0A1W2PQU8_HUMAN UniProtKB/TrEMBL
  A0A1W2PR54_HUMAN UniProtKB/TrEMBL
  A0A1W2PRP6_HUMAN UniProtKB/TrEMBL
  Q5JUX0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RUW3 UniProtKB/Swiss-Prot
  B7Z8W2 UniProtKB/Swiss-Prot
  Q8N5D9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SPIN3  spindlin family member 3    spindlin family, member 3  Symbol and/or name change 5135510 APPROVED