SNU13 (small nuclear ribonucleoprotein 13) - Rat Genome Database

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Gene: SNU13 (small nuclear ribonucleoprotein 13) Homo sapiens
Analyze
Symbol: SNU13
Name: small nuclear ribonucleoprotein 13
RGD ID: 1347136
HGNC Page HGNC
Description: Enables ATPase binding activity and RNA binding activity. Contributes to snoRNA binding activity. Involved in mRNA splicing, via spliceosome. Located in dense fibrillar component. Part of U2-type precatalytic spliceosome; box C/D RNP complex; and spliceosomal snRNP complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 15.5K; [U4/U6.U5] tri-snRNP 15.5 kD RNA binding protein; FA-1; FA1; high mobility group-like nuclear protein 2 homolog 1; NHP2 non-histone chromosome protein 2-like 1; NHP2-like protein 1; NHP2L1; NHPX; non-histone chromosome protein 2-like 1; OTK27; small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5); SNRNP15-5; SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5); SPAG12; sperm specific antigen 1; SSFA1; U4/U6.U5 small nuclear ribonucleoprotein SNU13; U4/U6.U5 tri-snRNP 15.5 kDa protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC106748.1   LOC647503  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,673,933 - 41,690,504 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,673,933 - 41,690,492 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,069,937 - 42,084,871 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,399,883 - 40,414,859 (-)NCBINCBI36hg18NCBI36
Build 342240,394,437 - 40,403,056NCBI
Celera2225,876,373 - 25,891,348 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,035,346 - 25,050,319 (-)NCBIHuRef
CHM1_12242,029,949 - 42,044,925 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8978773   PMID:9114055   PMID:10545122   PMID:10591208   PMID:10593953   PMID:11081632   PMID:11163207   PMID:11790298   PMID:12011111   PMID:12203836   PMID:12226669   PMID:12417735  
PMID:12429849   PMID:12477932   PMID:12777385   PMID:14702039   PMID:15461802   PMID:15489334   PMID:15635413   PMID:16169070   PMID:16344560   PMID:16723661   PMID:16857676   PMID:17412961  
PMID:17636026   PMID:17643375   PMID:18044964   PMID:19620283   PMID:19738201   PMID:20360068   PMID:21145461   PMID:21319273   PMID:21784869   PMID:21873635   PMID:21988832   PMID:22190034  
PMID:22365833   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:23166591   PMID:23602568   PMID:24234454   PMID:24457600   PMID:24778252   PMID:25404746  
PMID:25693804   PMID:25963833   PMID:26186194   PMID:26209609   PMID:26275778   PMID:26299517   PMID:26344197   PMID:26465331   PMID:26496610   PMID:26598620   PMID:26638075   PMID:26912367  
PMID:27594683   PMID:27634302   PMID:27684187   PMID:28027390   PMID:28077445   PMID:28276505   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28781166   PMID:28878014   PMID:28977666  
PMID:29117863   PMID:29128334   PMID:29298432   PMID:29499938   PMID:29509190   PMID:29540532   PMID:29568061   PMID:29802200   PMID:29845934   PMID:30021884   PMID:30097533   PMID:30209976  
PMID:30349055   PMID:30463901   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31076518   PMID:31091453   PMID:31405213   PMID:31586073   PMID:31822558  
PMID:32296183   PMID:32457219   PMID:32780723  


Genomics

Comparative Map Data
SNU13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,673,933 - 41,690,504 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,673,933 - 41,690,492 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,069,937 - 42,084,871 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,399,883 - 40,414,859 (-)NCBINCBI36hg18NCBI36
Build 342240,394,437 - 40,403,056NCBI
Celera2225,876,373 - 25,891,348 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,035,346 - 25,050,319 (-)NCBIHuRef
CHM1_12242,029,949 - 42,044,925 (-)NCBICHM1_1
Snu13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391581,925,546 - 81,931,799 (-)NCBIGRCm39mm39
GRCm39 Ensembl1581,924,726 - 81,931,799 (-)Ensembl
GRCm381582,041,345 - 82,047,598 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,040,525 - 82,047,598 (-)EnsemblGRCm38mm10GRCm38
MGSCv371581,871,775 - 81,878,028 (-)NCBIGRCm37mm9NCBIm37
MGSCv361581,868,600 - 81,874,853 (-)NCBImm8
Celera1584,163,054 - 84,169,281 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1538.38NCBI
Snu13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,565,903 - 113,570,871 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,565,295 - 113,570,872 (-)Ensembl
Rnor_6.07123,282,754 - 123,287,721 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,282,754 - 123,287,721 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,267,419 - 123,272,386 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,425,064 - 120,430,031 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,459,293 - 120,464,261 (-)NCBI
Celera7109,881,746 - 109,886,713 (-)NCBICelera
Cytogenetic Map7q34NCBI
Snu13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,159,816 - 27,172,696 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,160,985 - 27,172,648 (-)NCBIChiLan1.0ChiLan1.0
SNU13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,653,338 - 40,668,216 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,653,338 - 40,669,706 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,567,285 - 22,582,257 (-)NCBIMhudiblu_PPA_v0panPan3
SNU13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,622,897 - 23,631,526 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,618,293 - 23,631,004 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,556,457 - 23,564,953 (+)NCBI
ROS_Cfam_1.01024,367,888 - 24,376,525 (+)NCBI
UMICH_Zoey_3.11024,084,805 - 24,093,434 (+)NCBI
UNSW_CanFamBas_1.01024,405,729 - 24,414,316 (+)NCBI
UU_Cfam_GSD_1.01024,580,074 - 24,588,705 (+)NCBI
Snu13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,279,382 - 7,285,470 (+)NCBI
SpeTri2.0NW_004936492289,834 - 295,883 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNU13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,885,067 - 6,900,023 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,891,014 - 6,900,026 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.254,262,171 - 4,271,206 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SNU13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,209,356 - 24,223,431 (-)NCBI
ChlSab1.1 Ensembl1924,206,653 - 24,216,686 (-)Ensembl
Vero_WHO_p1.0NW_023666045101,189,312 - 101,204,220 (+)NCBI
Snu13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,972,557 - 6,985,033 (+)NCBI

Position Markers
IB1149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,069,977 - 42,070,240UniSTSGRCh37
Build 362240,399,923 - 40,400,186RGDNCBI36
Celera2225,876,413 - 25,876,676RGD
Cytogenetic Map22q13UniSTS
HuRef2225,035,386 - 25,035,649UniSTS
TNG Radiation Hybrid Map2210157.0UniSTS
Stanford-G3 RH Map221380.0UniSTS
GeneMap99-G3 RH Map221380.0UniSTS
RH15753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,070,980 - 42,071,097UniSTSGRCh37
Build 362240,400,926 - 40,401,043RGDNCBI36
Celera2225,877,416 - 25,877,533RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map15q22.2UniSTS
HuRef2225,036,389 - 25,036,506UniSTS
RH47477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,069,966 - 42,070,099UniSTSGRCh37
Build 362240,399,912 - 40,400,045RGDNCBI36
Celera2225,876,402 - 25,876,535RGD
Cytogenetic Map22q13UniSTS
HuRef2225,035,375 - 25,035,508UniSTS
GeneMap99-GB4 RH Map22127.53UniSTS
SHGC-7075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,082,131 - 42,082,343UniSTSGRCh37
Build 362240,412,077 - 40,412,289RGDNCBI36
Celera2225,888,566 - 25,888,778RGD
Cytogenetic Map22q13UniSTS
HuRef2225,047,537 - 25,047,749UniSTS
TNG Radiation Hybrid Map2213051.0UniSTS
Stanford-G3 RH Map221367.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2733
Count of miRNA genes:728
Interacting mature miRNAs:838
Transcripts:ENST00000215956, ENST00000355257, ENST00000401959, ENST00000402458, ENST00000463675, ENST00000469028, ENST00000469522, ENST00000488571
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 2439 2883 1721 619 1885 460 4357 2156 3733 418 1460 1613 175 1 1204 2788 6 2
Low 108 5 5 66 5 41 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF091076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG164621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI770951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF552526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ840914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB021462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB353524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000215956   ⟹   ENSP00000215956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,674,707 - 41,682,622 (-)Ensembl
RefSeq Acc Id: ENST00000401959   ⟹   ENSP00000383949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,673,933 - 41,688,867 (-)Ensembl
RefSeq Acc Id: ENST00000402458   ⟹   ENSP00000383989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,674,925 - 41,690,504 (-)Ensembl
RefSeq Acc Id: ENST00000463675   ⟹   ENSP00000497047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,674,789 - 41,688,804 (-)Ensembl
RefSeq Acc Id: ENST00000469028   ⟹   ENSP00000497330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,675,031 - 41,688,799 (-)Ensembl
RefSeq Acc Id: ENST00000469522   ⟹   ENSP00000497320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,687,742 - 41,688,847 (-)Ensembl
RefSeq Acc Id: ENST00000488571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,675,152 - 41,682,456 (-)Ensembl
RefSeq Acc Id: ENST00000648161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,673,934 - 41,676,323 (-)Ensembl
RefSeq Acc Id: ENST00000648350   ⟹   ENSP00000498157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,674,817 - 41,690,462 (-)Ensembl
RefSeq Acc Id: ENST00000648674   ⟹   ENSP00000497142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,674,615 - 41,688,895 (-)Ensembl
RefSeq Acc Id: ENST00000649479   ⟹   ENSP00000497535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,674,817 - 41,688,825 (-)Ensembl
RefSeq Acc Id: ENST00000649722   ⟹   ENSP00000497306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,675,033 - 41,690,504 (-)Ensembl
RefSeq Acc Id: NM_001003796   ⟹   NP_001003796
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,673,933 - 41,688,867 (-)NCBI
GRCh372242,069,937 - 42,085,296 (-)NCBI
Build 362240,399,883 - 40,414,859 (-)NCBI Archive
HuRef2225,035,346 - 25,050,319 (-)ENTREZGENE
CHM1_12242,029,949 - 42,044,925 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005008   ⟹   NP_004999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,673,933 - 41,688,867 (-)NCBI
GRCh372242,069,937 - 42,085,296 (-)NCBI
Build 362240,399,883 - 40,408,502 (-)NCBI Archive
HuRef2225,035,346 - 25,050,319 (-)ENTREZGENE
CHM1_12242,029,949 - 42,044,925 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028811   ⟹   XP_016884300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,687,537 - 41,690,492 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001003796   ⟸   NM_001003796
- UniProtKB: P55769 (UniProtKB/Swiss-Prot),   Q6FHM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004999   ⟸   NM_005008
- UniProtKB: P55769 (UniProtKB/Swiss-Prot),   Q6FHM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884300   ⟸   XM_017028811
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000497142   ⟸   ENST00000648674
RefSeq Acc Id: ENSP00000498157   ⟸   ENST00000648350
RefSeq Acc Id: ENSP00000497047   ⟸   ENST00000463675
RefSeq Acc Id: ENSP00000497535   ⟸   ENST00000649479
RefSeq Acc Id: ENSP00000497306   ⟸   ENST00000649722
RefSeq Acc Id: ENSP00000215956   ⟸   ENST00000215956
RefSeq Acc Id: ENSP00000497320   ⟸   ENST00000469522
RefSeq Acc Id: ENSP00000383949   ⟸   ENST00000401959
RefSeq Acc Id: ENSP00000497330   ⟸   ENST00000469028
RefSeq Acc Id: ENSP00000383989   ⟸   ENST00000402458
Protein Domains
Ribosomal_L7Ae

Promoters
RGD ID:6800177
Promoter ID:HG_KWN:43003
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000321683,   OTTHUMT00000321685
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,408,134 - 40,408,634 (-)MPROMDB
RGD ID:6799791
Promoter ID:HG_KWN:43004
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000321679,   OTTHUMT00000321681,   OTTHUMT00000321684,   OTTHUMT00000321905,   OTTHUMT00000321906,   UC003BAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,414,126 - 40,414,912 (+)MPROMDB
RGD ID:6799731
Promoter ID:HG_KWN:43006
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000356843,   ENST00000402458,   NM_001142964
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,416,016 - 40,416,516 (+)MPROMDB
RGD ID:13604274
Promoter ID:EPDNEW_H28321
Type:initiation region
Name:SNU13_1
Description:small nuclear ribonucleoprotein 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,682,452 - 41,682,512EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_001142964.1(C22orf46):c.464C>T (p.Ser155Phe) single nucleotide variant Malignant melanoma [RCV000072982] Chr22:41693710 [GRCh38]
Chr22:42089714 [GRCh37]
Chr22:40419660 [NCBI36]
Chr22:22q13.2
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42033410-42101539)x3 copy number gain See cases [RCV000448749] Chr22:42033410..42101539 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7819 AgrOrtholog
COSMIC SNU13 COSMIC
Ensembl Genes ENSG00000100138 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000215956 UniProtKB/Swiss-Prot
  ENSP00000383949 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383989 UniProtKB/TrEMBL
  ENSP00000497047 UniProtKB/TrEMBL
  ENSP00000497142 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497306 UniProtKB/TrEMBL
  ENSP00000497320 UniProtKB/TrEMBL
  ENSP00000497330 UniProtKB/TrEMBL
  ENSP00000497535 UniProtKB/TrEMBL
  ENSP00000498157 UniProtKB/TrEMBL
Ensembl Transcript ENST00000215956 UniProtKB/Swiss-Prot
  ENST00000401959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402458 UniProtKB/TrEMBL
  ENST00000463675 UniProtKB/TrEMBL
  ENST00000469028 UniProtKB/TrEMBL
  ENST00000469522 UniProtKB/TrEMBL
  ENST00000648350 UniProtKB/TrEMBL
  ENST00000648674 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000649479 UniProtKB/TrEMBL
  ENST00000649722 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1330.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100138 GTEx
HGNC ID HGNC:7819 ENTREZGENE
Human Proteome Map SNU13 Human Proteome Map
InterPro H/ACA_rnp_Nhp2_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L30e-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L7Ae/L30e/S12e/Gad45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L7Ae/L8/Nhp2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L7Ae_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4809 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4809 ENTREZGENE
OMIM 601304 OMIM
Pfam Ribosomal_L7Ae UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31621 PharmGKB
PRINTS L7ARS6FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEARHMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RIBOSOMAL_L7AE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55315 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRU2_HUMAN UniProtKB/TrEMBL
  A0A3B3ISH1_HUMAN UniProtKB/TrEMBL
  A0A3B3ISH9_HUMAN UniProtKB/TrEMBL
  A0A3B3ISK4_HUMAN UniProtKB/TrEMBL
  A0A3B3IUA2_HUMAN UniProtKB/TrEMBL
  B1AHD1_HUMAN UniProtKB/TrEMBL
  NH2L1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FHM6 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-21 SNU13  small nuclear ribonucleoprotein 13    SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)  Symbol and/or name change 5135510 APPROVED
2016-03-08 SNU13  SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)  SSFA1  sperm specific antigen 1  Data Merged 737654 PROVISIONAL
2015-07-14 SNU13  SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)  NHP2L1  NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED