SNRPD3 (small nuclear ribonucleoprotein D3 polypeptide) - Rat Genome Database

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Gene: SNRPD3 (small nuclear ribonucleoprotein D3 polypeptide) Homo sapiens
Analyze
Symbol: SNRPD3
Name: small nuclear ribonucleoprotein D3 polypeptide
RGD ID: 1345342
HGNC Page HGNC:11160
Description: Enables U7 snRNA binding activity; enzyme binding activity; and telomerase RNA binding activity. Involved in spliceosomal snRNP assembly. Located in cytosol; nuclear body; and spliceosomal complex. Part of several cellular components, including methylosome; nucleus; and pICln-Sm protein complex. Implicated in systemic lupus erythematosus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Sm-D3; small nuclear ribonucleoprotein D3 polypeptide 18kDa; small nuclear ribonucleoprotein polypeptide D3; small nuclear ribonucleoprotein Sm D3; SMD3; snRNP core protein D3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,555,650 - 24,574,971 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,555,958 - 24,582,052 (+)EnsemblGRCh38hg38GRCh38
GRCh372224,951,618 - 24,970,939 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,281,618 - 23,298,509 (+)NCBINCBI36Build 36hg18NCBI36
Build 342223,276,171 - 23,293,063NCBI
Celera228,751,341 - 8,768,251 (+)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,901,312 - 7,920,624 (+)NCBIHuRef
CHM1_12224,910,367 - 24,929,747 (+)NCBICHM1_1
T2T-CHM13v2.02225,017,257 - 25,036,577 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
2. Identification of genes associated with local aggressiveness and metastatic behavior in soft tissue tumors. Cunha IW, etal., Transl Oncol. 2010 Feb;3(1):23-32.
3. Effect of dsDNA binding to SmD-derived peptides on clinical accuracy in the diagnosis of systemic lupus erythematosus. Mahler M, etal., Arthritis Res Ther. 2007;9(4):R68.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. The spliceosome: design principles of a dynamic RNP machine. Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.
Additional References at PubMed
PMID:1701240   PMID:7527560   PMID:9323129   PMID:9417867   PMID:10025403   PMID:10500148   PMID:10531003   PMID:10556282   PMID:10601333   PMID:10725331   PMID:10747894   PMID:10851237  
PMID:11101529   PMID:11226169   PMID:11389857   PMID:11574479   PMID:11713266   PMID:11714716   PMID:11747828   PMID:11748230   PMID:11756452   PMID:11780068   PMID:11790298   PMID:11991638  
PMID:12065586   PMID:12226669   PMID:12234937   PMID:12477932   PMID:14559993   PMID:15130578   PMID:15146077   PMID:15146197   PMID:15231747   PMID:15302587   PMID:15342556   PMID:15369763  
PMID:15461802   PMID:15489334   PMID:15564372   PMID:15642139   PMID:15642993   PMID:15782174   PMID:15848170   PMID:15939020   PMID:16159877   PMID:16236255   PMID:17332742   PMID:17643375  
PMID:17709427   PMID:18029348   PMID:18082603   PMID:18495660   PMID:18854154   PMID:18984161   PMID:19322201   PMID:19325628   PMID:19520849   PMID:19738201   PMID:19759913   PMID:20085707  
PMID:20360068   PMID:20467437   PMID:21081503   PMID:21113136   PMID:21145461   PMID:21516107   PMID:21642987   PMID:21873635   PMID:21874759   PMID:21988832   PMID:22101937   PMID:22365833  
PMID:22446626   PMID:22623428   PMID:22681889   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23084401   PMID:23151878   PMID:23184937   PMID:23236152   PMID:23246001   PMID:23376485  
PMID:23398456   PMID:23403292   PMID:23438482   PMID:23443559   PMID:23463506   PMID:24457600   PMID:24550385   PMID:24625528   PMID:24657165   PMID:24711643   PMID:24927181   PMID:25147182  
PMID:25437307   PMID:25555158   PMID:25798074   PMID:25948554   PMID:25963833   PMID:26170170   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26496610   PMID:26527279   PMID:26725010  
PMID:26760575   PMID:26831064   PMID:26841866   PMID:26912367   PMID:26979993   PMID:26990986   PMID:27025967   PMID:27129302   PMID:27173435   PMID:27248496   PMID:27371349   PMID:27591049  
PMID:27976729   PMID:28027390   PMID:28076346   PMID:28225217   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28581483   PMID:28712289   PMID:28781166   PMID:28878014  
PMID:28977470   PMID:28977666   PMID:29117863   PMID:29228324   PMID:29229926   PMID:29298432   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29704455   PMID:29773831  
PMID:29802200   PMID:29844126   PMID:29845934   PMID:29884807   PMID:30021884   PMID:30033366   PMID:30209976   PMID:30258100   PMID:30404004   PMID:30455355   PMID:30463901   PMID:30804502  
PMID:30833792   PMID:30948266   PMID:30975767   PMID:31048545   PMID:31091453   PMID:31180492   PMID:31253590   PMID:31324722   PMID:31409639   PMID:31586073   PMID:31594818   PMID:31744343  
PMID:31980649   PMID:32041737   PMID:32129710   PMID:32296183   PMID:32494006   PMID:32521226   PMID:32545483   PMID:32687490   PMID:32698014   PMID:32780723   PMID:32807901   PMID:32814053  
PMID:33022573   PMID:33301849   PMID:33306668   PMID:33644029   PMID:33658012   PMID:33677607   PMID:33766124   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34185411   PMID:34373451  
PMID:34428256   PMID:34709727   PMID:34768043   PMID:34901782   PMID:35013218   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35676659   PMID:35819319  
PMID:35831314   PMID:35944360   PMID:35987950   PMID:36042349   PMID:36057605   PMID:36180527   PMID:36180891   PMID:36215168   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36526897  
PMID:36574265   PMID:36634849   PMID:36724073   PMID:36797247   PMID:36811957   PMID:36929488   PMID:37616343   PMID:37689310   PMID:37827155   PMID:38049564   PMID:38113892   PMID:38172120  


Genomics

Comparative Map Data
SNRPD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382224,555,650 - 24,574,971 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2224,555,958 - 24,582,052 (+)EnsemblGRCh38hg38GRCh38
GRCh372224,951,618 - 24,970,939 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,281,618 - 23,298,509 (+)NCBINCBI36Build 36hg18NCBI36
Build 342223,276,171 - 23,293,063NCBI
Celera228,751,341 - 8,768,251 (+)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,901,312 - 7,920,624 (+)NCBIHuRef
CHM1_12224,910,367 - 24,929,747 (+)NCBICHM1_1
T2T-CHM13v2.02225,017,257 - 25,036,577 (+)NCBIT2T-CHM13v2.0
Snrpd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,353,852 - 75,371,300 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1075,353,385 - 75,373,215 (+)EnsemblGRCm39 Ensembl
GRCm381075,518,042 - 75,535,440 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,517,551 - 75,537,381 (+)EnsemblGRCm38mm10GRCm38
MGSCv371074,980,787 - 74,998,185 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361074,961,758 - 74,979,156 (+)NCBIMGSCv36mm8
Celera1076,562,802 - 76,580,214 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.55NCBI
Snrpd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82013,129,555 - 13,145,100 (-)NCBIGRCr8
mRatBN7.22013,130,112 - 13,145,947 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2013,130,119 - 13,145,978 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2013,836,690 - 13,852,053 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02013,197,636 - 13,212,999 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02013,670,141 - 13,685,504 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02014,080,562 - 14,095,644 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2014,080,565 - 14,095,181 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02016,265,897 - 16,280,500 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2014,615,859 - 14,631,320 (-)NCBICelera
Cytogenetic Map20p12NCBI
Snrpd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,021,946 - 8,046,439 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,021,946 - 8,045,325 (+)NCBIChiLan1.0ChiLan1.0
SNRPD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22334,344,733 - 34,361,094 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12237,075,419 - 37,091,705 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0225,361,886 - 5,378,465 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12222,227,328 - 22,255,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2222,227,328 - 22,246,676 (+)Ensemblpanpan1.1panPan2
SNRPD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12628,247,878 - 28,263,519 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2627,322,650 - 27,338,477 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02629,651,819 - 29,667,871 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2629,652,275 - 29,667,868 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12627,735,763 - 27,751,600 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02627,352,755 - 27,368,580 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02628,342,420 - 28,358,470 (+)NCBIUU_Cfam_GSD_1.0
Snrpd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118142,009,519 - 142,025,363 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936619728,114 - 745,551 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936619728,759 - 744,367 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNRPD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11449,585,177 - 49,598,015 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,027,337 - 53,039,880 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SNRPD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1197,560,946 - 7,577,338 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl197,417,483 - 7,577,914 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660854,743,649 - 4,779,869 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snrpd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247479,962,467 - 9,987,511 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247479,973,949 - 9,987,520 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNRPD3
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23		 uncertain significance
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
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23		 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 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 copy number gain See cases [RCV000137178] Chr22:23804407..24669609 [GRCh38]
Chr22:24146594..25065576 [GRCh37]
Chr22:22476594..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23		 likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23		 likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
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 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3 copy number gain See cases [RCV000240545] Chr22:24401196..25010751 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3 copy number gain Unilateral renal agenesis [RCV002282735] Chr22:23652519..25059631 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23		 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 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23		 uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23		 likely pathogenic
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
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23		 likely pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3 copy number gain not provided [RCV000509448] Chr22:24652837..25970705 [GRCh37]
Chr22:22q11.23-12.1		 not provided
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
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 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23		 uncertain significance
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
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23		 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 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23		 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 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 copy number gain See cases [RCV001007417] Chr22:24311474..26075188 [GRCh37]
Chr22:22q11.23-12.1		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
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
GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3 copy number gain not provided [RCV001795844] Chr22:23689960..25000632 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280733] Chr22:21798906..25039018 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3 copy number gain not provided [RCV002473740] Chr22:24402263..25447775 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3 copy number gain not provided [RCV002472515] Chr22:23650201..24992266 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3 copy number gain not provided [RCV002473884] Chr22:23650872..25002483 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3 copy number gain not provided [RCV002473547] Chr22:22997929..24995256 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 copy number gain not provided [RCV002474578] Chr22:22953515..24995256 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
NM_004175.5(SNRPD3):c.73G>A (p.Gly25Ser) single nucleotide variant Inborn genetic diseases [RCV002813353] Chr22:24557747 [GRCh38]
Chr22:24953715 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV003329499] Chr22:23658260..25114888 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3 copy number gain not provided [RCV003485241] Chr22:23690388..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 copy number gain not provided [RCV003457365] Chr22:22989453..25019883 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1179
Count of miRNA genes:681
Interacting mature miRNAs:768
Transcripts:ENST00000215829, ENST00000402849, ENST00000404603, ENST00000439775, ENST00000468770
Prediction methods: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.

Markers in Region
SHGC-12625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,967,948 - 24,968,102UniSTSGRCh37
Build 362223,297,948 - 23,298,102RGDNCBI36
Celera228,767,690 - 8,767,844RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,917,640 - 7,917,794UniSTS
Stanford-G3 RH Map22397.0UniSTS
NCBI RH Map2290.4UniSTS
GeneMap99-G3 RH Map22397.0UniSTS
RH121336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,951,606 - 24,951,947UniSTSGRCh37
Build 362223,281,606 - 23,281,947RGDNCBI36
Celera228,751,329 - 8,751,670RGD
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef227,901,300 - 7,901,641UniSTS
STS-W80851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,968,773 - 24,968,951UniSTSGRCh37
GRCh372224,968,773 - 24,969,083UniSTSGRCh37
Build 362223,298,773 - 23,298,951RGDNCBI36
Celera228,768,515 - 8,768,693RGD
Celera228,768,515 - 8,768,825UniSTS
Cytogenetic Map22q11.23UniSTS
HuRef227,918,465 - 7,918,643UniSTS
HuRef227,918,465 - 7,918,775UniSTS
GeneMap99-GB4 RH Map2254.08UniSTS
NCBI RH Map2268.7UniSTS


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 2435 2868 1723 622 1894 463 4356 2131 3649 418 1457 1612 175 1 1204 2788 5 2
Low 4 123 3 2 57 2 1 66 85 1 3 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF344644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM928709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP202359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY993733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN286602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000215829   ⟹   ENSP00000215829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,555,999 - 24,574,971 (+)Ensembl
RefSeq Acc Id: ENST00000402849   ⟹   ENSP00000385266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,556,007 - 24,582,052 (+)Ensembl
RefSeq Acc Id: ENST00000468770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2224,555,958 - 24,558,086 (+)Ensembl
RefSeq Acc Id: NM_001278656   ⟹   NP_001265585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,555,999 - 24,574,971 (+)NCBI
GRCh372224,951,618 - 24,970,932 (+)NCBI
HuRef227,901,312 - 7,920,624 (+)NCBI
CHM1_12224,910,367 - 24,929,747 (+)NCBI
T2T-CHM13v2.02225,017,606 - 25,036,577 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004175   ⟹   NP_004166
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,555,999 - 24,574,971 (+)NCBI
GRCh372224,951,618 - 24,970,932 (+)NCBI
Build 362223,281,618 - 23,298,509 (+)NCBI Archive
HuRef227,901,312 - 7,920,624 (+)NCBI
CHM1_12224,910,367 - 24,929,747 (+)NCBI
T2T-CHM13v2.02225,017,606 - 25,036,577 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103819
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,555,650 - 24,574,964 (+)NCBI
GRCh372224,951,618 - 24,970,932 (+)NCBI
HuRef227,901,312 - 7,920,624 (+)NCBI
CHM1_12224,910,367 - 24,929,747 (+)NCBI
T2T-CHM13v2.02225,017,257 - 25,036,570 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004166   ⟸   NM_004175
- UniProtKB: B5BU13 (UniProtKB/Swiss-Prot),   B4DJP7 (UniProtKB/Swiss-Prot),   P43331 (UniProtKB/Swiss-Prot),   P62318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265585   ⟸   NM_001278656
- UniProtKB: B5BU13 (UniProtKB/Swiss-Prot),   B4DJP7 (UniProtKB/Swiss-Prot),   P43331 (UniProtKB/Swiss-Prot),   P62318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000215829   ⟸   ENST00000215829
RefSeq Acc Id: ENSP00000385266   ⟸   ENST00000402849
Protein Domains
Sm

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62318-F1-model_v2 AlphaFold P62318 1-126 view protein structure

Promoters
RGD ID:6800387
Promoter ID:HG_KWN:42049
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000402849,   ENST00000404603,   OTTHUMT00000319813,   OTTHUMT00000319814,   OTTHUMT00000319816,   OTTHUMT00000319818
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,280,476 - 23,282,037 (+)MPROMDB
RGD ID:6852404
Promoter ID:EP74010
Type:initiation region
Name:HS_SNRPD3
Description:Small nuclear ribonucleoprotein D3 polypeptide 18kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,281,977 - 23,282,037EPD
RGD ID:13603506
Promoter ID:EPDNEW_H27937
Type:initiation region
Name:SNRPD3_2
Description:small nuclear ribonucleoprotein D3 polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27939  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,555,484 - 24,555,544EPDNEW
RGD ID:13603510
Promoter ID:EPDNEW_H27939
Type:initiation region
Name:SNRPD3_1
Description:small nuclear ribonucleoprotein D3 polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27937  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,555,996 - 24,556,056EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11160 AgrOrtholog
COSMIC SNRPD3 COSMIC
Ensembl Genes ENSG00000100028 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000215829 ENTREZGENE
  ENST00000215829.8 UniProtKB/Swiss-Prot
  ENST00000402849.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.100 UniProtKB/Swiss-Prot
GTEx ENSG00000100028 GTEx
HGNC ID HGNC:11160 ENTREZGENE
Human Proteome Map SNRPD3 Human Proteome Map
InterPro IPR047575 UniProtKB/Swiss-Prot
  LSm4/Sm_D1/D3 UniProtKB/Swiss-Prot
  LSM_dom_euk/arc UniProtKB/Swiss-Prot
  LSM_dom_sf UniProtKB/Swiss-Prot
  SmD3 UniProtKB/Swiss-Prot
KEGG Report hsa:6634 UniProtKB/Swiss-Prot
NCBI Gene 6634 ENTREZGENE
OMIM 601062 OMIM
PANTHER PTHR23338 UniProtKB/Swiss-Prot
  SMALL NUCLEAR RIBONUCLEOPROTEIN SM D3 UniProtKB/Swiss-Prot
Pfam LSM UniProtKB/Swiss-Prot
PharmGKB PA36001 PharmGKB
PROSITE PS52002 UniProtKB/Swiss-Prot
SMART SM00651 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50182 UniProtKB/Swiss-Prot
UniProt B4DJP7 ENTREZGENE
  B5BU13 ENTREZGENE
  P43331 ENTREZGENE
  P62318 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DJP7 UniProtKB/Swiss-Prot
  B5BU13 UniProtKB/Swiss-Prot
  P43331 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 SNRPD3  small nuclear ribonucleoprotein D3 polypeptide  SNRPD3  small nuclear ribonucleoprotein D3 polypeptide 18kDa  Symbol and/or name change 5135510 APPROVED