CSRNP3 (cysteine and serine rich nuclear protein 3) - Rat Genome Database

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Gene: CSRNP3 (cysteine and serine rich nuclear protein 3) Homo sapiens
Analyze
Symbol: CSRNP3
Name: cysteine and serine rich nuclear protein 3
RGD ID: 1605039
HGNC Page HGNC:30729
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CSRNP-3; cysteine-serine-rich nuclear protein 3; cysteine/serine-rich nuclear protein 3; FAM130A2; family with sequence similarity 130, member A2; FLJ11703; FLJ32093; FLJ44141; MBU1; PPP1R73; protein phosphatase 1, regulatory subunit 73; TAIP-2; TAIP2; TGF beta induced apotosis protein 2; TGF-beta induced apoptosis protein 2; TGF-beta-induced apoptosis protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382165,469,698 - 165,689,407 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2165,469,647 - 165,689,407 (+)EnsemblGRCh38hg38GRCh38
GRCh372166,326,208 - 166,545,917 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362166,137,136 - 166,245,458 (+)NCBINCBI36Build 36hg18NCBI36
Celera2159,936,725 - 160,155,865 (+)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2158,208,131 - 158,427,753 (+)NCBIHuRef
CHM1_12166,331,798 - 166,552,214 (+)NCBICHM1_1
T2T-CHM13v2.02165,926,990 - 166,146,740 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleus  (IBA,IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Nephronophthisis  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:14702039   PMID:15815621   PMID:16344560   PMID:17726538   PMID:18029348   PMID:19389623   PMID:19401682   PMID:20468071   PMID:21873635   PMID:24688116   PMID:30349055   PMID:35256949  


Genomics

Comparative Map Data
CSRNP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382165,469,698 - 165,689,407 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2165,469,647 - 165,689,407 (+)EnsemblGRCh38hg38GRCh38
GRCh372166,326,208 - 166,545,917 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362166,137,136 - 166,245,458 (+)NCBINCBI36Build 36hg18NCBI36
Celera2159,936,725 - 160,155,865 (+)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2158,208,131 - 158,427,753 (+)NCBIHuRef
CHM1_12166,331,798 - 166,552,214 (+)NCBICHM1_1
T2T-CHM13v2.02165,926,990 - 166,146,740 (+)NCBIT2T-CHM13v2.0
Csrnp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39265,675,628 - 65,866,958 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl265,676,111 - 65,861,890 (+)EnsemblGRCm39 Ensembl
GRCm38265,845,284 - 66,036,614 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl265,845,767 - 66,031,546 (+)EnsemblGRCm38mm10GRCm38
MGSCv37265,683,824 - 65,869,603 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36265,646,681 - 65,824,298 (+)NCBIMGSCv36mm8
Celera267,525,836 - 67,711,310 (+)NCBICelera
Cytogenetic Map2C1.3NCBI
cM Map238.79NCBI
Csrnp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8370,906,587 - 71,102,596 (+)NCBIGRCr8
mRatBN7.2350,498,379 - 50,695,598 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl350,498,633 - 50,685,950 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx353,849,858 - 54,029,207 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0362,433,474 - 62,612,826 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0360,209,518 - 60,388,863 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0351,883,559 - 52,120,290 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl351,883,559 - 52,120,290 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0358,517,979 - 58,753,059 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4347,877,014 - 47,972,981 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1347,773,070 - 47,870,041 (+)NCBI
Celera350,091,668 - 50,271,757 (+)NCBICelera
Cytogenetic Map3q21NCBI
Csrnp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554498,460,577 - 8,635,417 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554498,450,292 - 8,635,393 (-)NCBIChiLan1.0ChiLan1.0
CSRNP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21368,130,375 - 68,348,373 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B68,145,368 - 68,363,348 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B52,744,717 - 52,962,741 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B170,103,604 - 170,311,348 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B170,122,687 - 170,311,348 (+)Ensemblpanpan1.1panPan2
CSRNP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13610,664,555 - 10,863,366 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3610,664,365 - 10,850,520 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3610,809,377 - 10,998,552 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03610,798,782 - 10,988,138 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3610,815,759 - 10,988,367 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13610,880,583 - 11,069,834 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03610,852,565 - 11,042,335 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03610,965,349 - 11,154,675 (+)NCBIUU_Cfam_GSD_1.0
Csrnp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303127,844,785 - 127,988,598 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646913,631,182 - 13,770,257 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646913,628,830 - 13,808,970 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSRNP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1572,141,621 - 72,233,832 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11572,040,854 - 72,242,269 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21580,471,002 - 80,672,885 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CSRNP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11050,967,138 - 51,184,378 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1051,073,480 - 51,182,389 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040148,332,089 - 148,543,145 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csrnp3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247873,308,484 - 3,500,852 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247873,308,502 - 3,506,450 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CSRNP3
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 copy number loss See cases [RCV000051003] Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3		 pathogenic
GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3 copy number gain See cases [RCV000052698] Chr2:165542962..166152073 [GRCh38]
Chr2:166399472..167008583 [GRCh37]
Chr2:166107718..166716829 [NCBI36]
Chr2:2q24.3		 uncertain significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3		 pathogenic
GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 copy number loss See cases [RCV000054119] Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
NM_001172173.1(CSRNP3):c.79G>A (p.Glu27Lys) single nucleotide variant Malignant melanoma [RCV000060371] Chr2:165595144 [GRCh38]
Chr2:166451654 [GRCh37]
Chr2:166159900 [NCBI36]
Chr2:2q24.3		 not provided
GRCh37/hg19 2q24.3(chr2:165903672-166666206) copy number gain Corpus callosum, agenesis of [RCV001291959] Chr2:165903672..166666206 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 copy number gain See cases [RCV000133953] Chr2:164920562..167536439 [GRCh38]
Chr2:165777072..168392949 [GRCh37]
Chr2:165485318..168101195 [NCBI36]
Chr2:2q24.3		 pathogenic
GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3 copy number gain See cases [RCV000135461] Chr2:165542113..166137050 [GRCh38]
Chr2:166398623..166993560 [GRCh37]
Chr2:166106869..166701806 [NCBI36]
Chr2:2q24.3		 uncertain significance
GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1 copy number loss See cases [RCV000137581] Chr2:163419387..165682938 [GRCh38]
Chr2:164275897..166539448 [GRCh37]
Chr2:163984143..166247694 [NCBI36]
Chr2:2q24.3		 pathogenic|likely pathogenic
GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3 copy number gain See cases [RCV000142015] Chr2:164941760..165764726 [GRCh38]
Chr2:165798270..166621236 [GRCh37]
Chr2:165506516..166329482 [NCBI36]
Chr2:2q24.3		 likely pathogenic
GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 copy number loss See cases [RCV000141780] Chr2:165238425..166114982 [GRCh38]
Chr2:166094935..166971492 [GRCh37]
Chr2:165803181..166679738 [NCBI36]
Chr2:2q24.3		 pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1		 pathogenic
GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 copy number loss See cases [RCV000143388] Chr2:165222998..166664612 [GRCh38]
Chr2:166079508..167521122 [GRCh37]
Chr2:165787754..167229368 [NCBI36]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166094617-166931348)x3 copy number gain See cases [RCV000240508] Chr2:166094617..166931348 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_001172173.2(CSRNP3):c.1445G>A (p.Arg482Gln) single nucleotide variant not specified [RCV004299564] Chr2:165679440 [GRCh38]
Chr2:166535950 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 copy number loss not provided [RCV000585557] Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1		 likely pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 copy number gain See cases [RCV000447420] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 copy number loss See cases [RCV000511973] Chr2:166374955..169671203 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 copy number loss See cases [RCV000511424] Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:165065255-166517749) copy number gain See cases [RCV000511060] Chr2:165065255..166517749 [GRCh37]
Chr2:2q24.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 copy number loss See cases [RCV000511103] Chr2:166032047..168283204 [GRCh37]
Chr2:2q24.3		 pathogenic
NC_000002.12:g.(?_165090130)_(166228992_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387895] Chr2:165090130..166228992 [GRCh38]
Chr2:165946640..167085502 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
NM_001172173.2(CSRNP3):c.452T>C (p.Leu151Pro) single nucleotide variant not specified [RCV004304131] Chr2:165676355 [GRCh38]
Chr2:166532865 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1 copy number loss not provided [RCV000512658] Chr2:166221754..166646820 [GRCh37]
Chr2:2q24.3		 likely pathogenic
GRCh37/hg19 2q24.3(chr2:166433431-166612343)x1 copy number loss not provided [RCV000682025] Chr2:166433431..166612343 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.3(chr2:166395880-167016281)x3 copy number gain not provided [RCV000682093] Chr2:166395880..167016281 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
NC_000002.12:g.(?_165090130)_(166204484_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001031030] Chr2:165946640..167060994 [GRCh37]
Chr2:2q24.3		 pathogenic
NM_001172173.2(CSRNP3):c.1083G>A (p.Thr361=) single nucleotide variant not provided [RCV000906478] Chr2:165679078 [GRCh38]
Chr2:166535588 [GRCh37]
Chr2:2q24.3		 benign
NM_001172173.2(CSRNP3):c.1225G>C (p.Val409Leu) single nucleotide variant not specified [RCV004299562] Chr2:165679220 [GRCh38]
Chr2:166535730 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1251C>A (p.Ala417=) single nucleotide variant not provided [RCV000894698] Chr2:165679246 [GRCh38]
Chr2:166535756 [GRCh37]
Chr2:2q24.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion not provided [RCV000768457] Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3		 pathogenic
Single allele deletion Epilepsy [RCV000787426] Chr2:166050817..166679227 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166352316-166433432)x3 copy number gain not provided [RCV000847859] Chr2:166352316..166433432 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_166152314)_(167108415_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000811357]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372278] Chr2:165295804..166251905 [GRCh38]
Chr2:166152314..167108415 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.12:g.(?_165090130)_(166311776_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000807258]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003117597]|Seizures, benign familial infantile, 3 [RCV003106069]|not provided [RCV003106068] Chr2:165090130..166311776 [GRCh38]
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.12:g.(?_165090130)_(166286643_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387894] Chr2:165090130..166286643 [GRCh38]
Chr2:165946640..167143153 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q24.3(chr2:166338194-167854823)x3 copy number gain not provided [RCV001005353] Chr2:166338194..167854823 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.12:g.(?_165090130)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001032318]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001324549]|Seizures, benign familial infantile, 3 [RCV001365121]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3		 uncertain significance|no classifications from unflagged records
NM_001172173.2(CSRNP3):c.688G>A (p.Ala230Thr) single nucleotide variant not specified [RCV004316608] Chr2:165676591 [GRCh38]
Chr2:166533101 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(166894662_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003105605] Chr2:165946660..166894662 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_166210682)_(167168266_?)dup duplication Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113170]|Seizures, benign familial infantile, 3 [RCV003107714] Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.886A>G (p.Ser296Gly) single nucleotide variant not specified [RCV004289542] Chr2:165678881 [GRCh38]
Chr2:166535391 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
NC_000002.12:g.(?_165112865)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033802]|not provided [RCV001346192] Chr2:165969375..167168286 [GRCh37]
Chr2:2q24.3		 uncertain significance|no classifications from unflagged records
NC_000002.12:g.(?_165295804)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033512] Chr2:166152314..167168286 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.3(chr2:166340583-166904859) copy number loss Microcephaly [RCV001252946] Chr2:166340583..166904859 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166177293-166439804)x1 copy number loss not provided [RCV001259779] Chr2:166177293..166439804 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1 copy number loss Complex neurodevelopmental disorder [RCV001265130] Chr2:166060478..166349787 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166471756-166750528)x1 copy number loss not provided [RCV001258561] Chr2:166471756..166750528 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946640)_(167168286_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001308306]|Hereditary sensory and autonomic neuropathy type IIA [RCV001324549]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(167168266_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001390921]|Jeune thoracic dystrophy [RCV001871956]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387893]|Seizures, benign familial infantile, 3 [RCV001381177]|not provided [RCV001362895] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 copy number loss 2q24 microdeletion syndrome [RCV002271993] Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1 copy number loss Severe myoclonic epilepsy in infancy [RCV001801211] Chr2:166152284..167760450 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:166322207-166374955)x1 copy number loss not provided [RCV001833007] Chr2:166322207..166374955 [GRCh37]
Chr2:2q24.3		 uncertain significance
GRCh37/hg19 2q24.3(chr2:165794558-166633875) copy number gain not specified [RCV002053262] Chr2:165794558..166633875 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790) copy number loss not specified [RCV002053257] Chr2:161551326..167762790 [GRCh37]
Chr2:2q24.2-24.3		 pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296) copy number gain not specified [RCV002053259] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3		 pathogenic
GRCh37/hg19 2q24.3(chr2:165428510-166888012) copy number loss not specified [RCV002053261] Chr2:165428510..166888012 [GRCh37]
Chr2:2q24.3		 pathogenic
NC_000002.11:g.(?_165946660)_(166898954_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001916374] Chr2:165946660..166898954 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_166210682)_(167168266_?)del deletion Seizures, benign familial infantile, 3 [RCV001958879] Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3		 pathogenic
NC_000002.11:g.(?_165946660)_(167168266_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001940047] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3		 uncertain significance
NC_000002.11:g.(?_165946660)_(167108415_?)del deletion Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113168] Chr2:165946660..167108415 [GRCh37]
Chr2:2q24.3		 pathogenic
GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1 copy number loss West syndrome [RCV002286320] Chr2:165383106..167432622 [GRCh38]
Chr2:2q24.3		 pathogenic
GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1 copy number loss Epilepsy of infancy with migrating focal seizures [RCV002286319] Chr2:165155128..166062451 [GRCh38]
Chr2:2q24.3		 pathogenic
NM_001172173.2(CSRNP3):c.1187G>A (p.Gly396Asp) single nucleotide variant not specified [RCV004083872] Chr2:165679182 [GRCh38]
Chr2:166535692 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1703G>A (p.Ser568Asn) single nucleotide variant not specified [RCV004154760] Chr2:165679698 [GRCh38]
Chr2:166536208 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1375A>C (p.Thr459Pro) single nucleotide variant not specified [RCV004177680] Chr2:165679370 [GRCh38]
Chr2:166535880 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1177T>C (p.Phe393Leu) single nucleotide variant not specified [RCV004115326] Chr2:165679172 [GRCh38]
Chr2:166535682 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.509A>C (p.Glu170Ala) single nucleotide variant not specified [RCV004193542] Chr2:165676412 [GRCh38]
Chr2:166532922 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.976G>T (p.Ala326Ser) single nucleotide variant not specified [RCV004132718] Chr2:165678971 [GRCh38]
Chr2:166535481 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1541C>T (p.Pro514Leu) single nucleotide variant not specified [RCV004214675] Chr2:165679536 [GRCh38]
Chr2:166536046 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.493A>G (p.Asn165Asp) single nucleotide variant not specified [RCV004175382] Chr2:165676396 [GRCh38]
Chr2:166532906 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1207G>C (p.Val403Leu) single nucleotide variant not specified [RCV004208812] Chr2:165679202 [GRCh38]
Chr2:166535712 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.955A>G (p.Ile319Val) single nucleotide variant not specified [RCV004263866] Chr2:165678950 [GRCh38]
Chr2:166535460 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1210G>T (p.Val404Phe) single nucleotide variant not specified [RCV004263058] Chr2:165679205 [GRCh38]
Chr2:166535715 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1291A>C (p.Asn431His) single nucleotide variant not specified [RCV004267698] Chr2:165679286 [GRCh38]
Chr2:166535796 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.58T>C (p.Ser20Pro) single nucleotide variant not specified [RCV004351013] Chr2:165595123 [GRCh38]
Chr2:166451633 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1164C>T (p.Asp388=) single nucleotide variant not provided [RCV003436228] Chr2:165679159 [GRCh38]
Chr2:166535669 [GRCh37]
Chr2:2q24.3		 likely benign
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 copy number loss not specified [RCV003986346] Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1 copy number loss not specified [RCV003986391] Chr2:165813403..169865235 [GRCh37]
Chr2:2q24.3-31.1		 pathogenic
NM_001172173.2(CSRNP3):c.1370G>A (p.Arg457Lys) single nucleotide variant not specified [RCV004372696] Chr2:165679365 [GRCh38]
Chr2:166535875 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.289C>T (p.Arg97Cys) single nucleotide variant not specified [RCV004372697] Chr2:165657901 [GRCh38]
Chr2:166514411 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.852A>C (p.Gln284His) single nucleotide variant not specified [RCV004372699] Chr2:165678847 [GRCh38]
Chr2:166535357 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1226T>G (p.Val409Gly) single nucleotide variant not specified [RCV004372694] Chr2:165679221 [GRCh38]
Chr2:166535731 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1347G>T (p.Gln449His) single nucleotide variant not specified [RCV004372695] Chr2:165679342 [GRCh38]
Chr2:166535852 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.40G>A (p.Gly14Ser) single nucleotide variant not specified [RCV004372698] Chr2:165595105 [GRCh38]
Chr2:166451615 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1041G>C (p.Glu347Asp) single nucleotide variant not specified [RCV004372692] Chr2:165679036 [GRCh38]
Chr2:166535546 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.916G>A (p.Ala306Thr) single nucleotide variant not specified [RCV004372700] Chr2:165678911 [GRCh38]
Chr2:166535421 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1567A>G (p.Arg523Gly) single nucleotide variant not specified [RCV004615725] Chr2:165679562 [GRCh38]
Chr2:166536072 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1010A>G (p.Asp337Gly) single nucleotide variant not specified [RCV004615727] Chr2:165679005 [GRCh38]
Chr2:166535515 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.997G>T (p.Ala333Ser) single nucleotide variant not specified [RCV004615728] Chr2:165678992 [GRCh38]
Chr2:166535502 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1676A>G (p.Glu559Gly) single nucleotide variant not specified [RCV004615729] Chr2:165679671 [GRCh38]
Chr2:166536181 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.1258G>A (p.Glu420Lys) single nucleotide variant not specified [RCV004613746] Chr2:165679253 [GRCh38]
Chr2:166535763 [GRCh37]
Chr2:2q24.3		 uncertain significance
NM_001172173.2(CSRNP3):c.301G>A (p.Val101Met) single nucleotide variant not specified [RCV004615726] Chr2:165657913 [GRCh38]
Chr2:166514423 [GRCh37]
Chr2:2q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7694
Count of miRNA genes:1277
Interacting mature miRNAs:1645
Transcripts:ENST00000314499, ENST00000342316, ENST00000409420, ENST00000409664, ENST00000421875, ENST00000464503
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597073429GWAS1169503_Hrisky sexual behaviour measurement QTL GWAS1169503 (human)7e-09sexual interaction trait (VT:0002566)2165633833165633834Human
597114994GWAS1211068_Hself reported educational attainment QTL GWAS1211068 (human)1e-08self reported educational attainment2165604079165604080Human
597058001GWAS1154075_Hintelligence QTL GWAS1154075 (human)0.000001intelligence2165677305165677306Human
597333682GWAS1429756_Heducational attainment QTL GWAS1429756 (human)4e-09educational attainment2165653110165653111Human
596952125GWAS1071644_Heducational attainment QTL GWAS1071644 (human)8e-12educational attainment2165505185165505186Human
407004200GWAS653176_Hintelligence QTL GWAS653176 (human)0.0000004intelligence2165539803165539804Human
597333681GWAS1429755_Heducational attainment QTL GWAS1429755 (human)0.0000009educational attainment2165603969165603970Human
597320374GWAS1416448_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1416448 (human)2e-08attention deficit hyperactivity disorder, autism spectrum disorder, intelligence2165527165165527166Human
597321334GWAS1417408_Heducational attainment QTL GWAS1417408 (human)1e-09educational attainment2165542604165542605Human
597292439GWAS1388513_Heducational attainment QTL GWAS1388513 (human)8e-12educational attainment2165505185165505186Human
597321333GWAS1417407_Heducational attainment QTL GWAS1417407 (human)3e-16educational attainment2165539896165539897Human
597069604GWAS1165678_Hlip morphology measurement QTL GWAS1165678 (human)0.000004lip morphology trait (VT:0003769)2165666620165666621Human
406962166GWAS611142_Hlongevity QTL GWAS611142 (human)0.000009longevity2165514316165514317Human
597019183GWAS1115257_Hattention deficit hyperactivity disorder QTL GWAS1115257 (human)0.000001attention deficit hyperactivity disorder2165481308165481309Human
597122088GWAS1218162_Hcognitive function measurement, self reported educational attainment QTL GWAS1218162 (human)2e-08cognitive function measurement, self reported educational attainment2165604079165604080Human

Markers in Region
RH46251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,542,753 - 166,542,926UniSTSGRCh37
Build 362166,250,999 - 166,251,172RGDNCBI36
Celera2160,152,700 - 160,152,873RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,424,591 - 158,424,764UniSTS
GeneMap99-GB4 RH Map2544.33UniSTS
NCBI RH Map21224.6UniSTS
SHGC-31840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,542,879 - 166,542,979UniSTSGRCh37
Build 362166,251,125 - 166,251,225RGDNCBI36
Celera2160,152,826 - 160,152,926RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,424,717 - 158,424,817UniSTS
Whitehead-RH Map2825.9UniSTS
SHGC-79015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,326,503 - 166,326,793UniSTSGRCh37
Build 362166,034,749 - 166,035,039RGDNCBI36
Celera2159,937,071 - 159,937,361RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,208,477 - 158,208,767UniSTS
TNG Radiation Hybrid Map293827.0UniSTS
RH123556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,509,630 - 166,509,919UniSTSGRCh37
Build 362166,217,876 - 166,218,165RGDNCBI36
Celera2160,119,565 - 160,119,854RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,391,611 - 158,391,900UniSTS
TNG Radiation Hybrid Map293921.0UniSTS
D2S1696E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,544,083 - 166,544,167UniSTSGRCh37
Build 362166,252,329 - 166,252,413RGDNCBI36
Celera2160,154,030 - 160,154,114RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,425,922 - 158,426,006UniSTS
SHGC-149401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,486,087 - 166,486,403UniSTSGRCh37
Build 362166,194,333 - 166,194,649RGDNCBI36
Celera2160,096,022 - 160,096,338RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,367,995 - 158,368,311UniSTS
TNG Radiation Hybrid Map293887.0UniSTS
TAIP-2__5189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,536,379 - 166,537,292UniSTSGRCh37
Build 362166,244,625 - 166,245,538RGDNCBI36
Celera2160,146,326 - 160,147,239RGD
HuRef2158,418,230 - 158,419,143UniSTS
A008B46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,544,015 - 166,544,143UniSTSGRCh37
Build 362166,252,261 - 166,252,389RGDNCBI36
Celera2160,153,962 - 160,154,090RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,425,854 - 158,425,982UniSTS
GeneMap99-GB4 RH Map2544.47UniSTS
SHGC-36838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,544,627 - 166,544,701UniSTSGRCh37
Build 362166,252,873 - 166,252,947RGDNCBI36
Celera2160,154,575 - 160,154,649RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,426,467 - 158,426,541UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2368 2788 2238 4919 1676 2240 5 580 1283 420 2226 6529 5802 46 3724 1 829 1709 1550 169 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001172173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB063300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA500249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000314499   ⟹   ENSP00000318258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,469,647 - 165,689,407 (+)Ensembl
Ensembl Acc Id: ENST00000342316   ⟹   ENSP00000344042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,572,339 - 165,689,407 (+)Ensembl
Ensembl Acc Id: ENST00000409420   ⟹   ENSP00000387195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,574,109 - 165,680,194 (+)Ensembl
Ensembl Acc Id: ENST00000409664   ⟹   ENSP00000386278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,469,698 - 165,676,319 (+)Ensembl
Ensembl Acc Id: ENST00000421875   ⟹   ENSP00000412081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,469,647 - 165,679,307 (+)Ensembl
Ensembl Acc Id: ENST00000464503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,469,706 - 165,566,981 (+)Ensembl
Ensembl Acc Id: ENST00000651982   ⟹   ENSP00000498841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2165,469,698 - 165,689,407 (+)Ensembl
RefSeq Acc Id: NM_001172173   ⟹   NP_001165644
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,469,698 - 165,689,407 (+)NCBI
GRCh372166,326,157 - 166,545,917 (+)RGD
Celera2159,936,725 - 160,155,865 (+)RGD
HuRef2158,208,131 - 158,427,753 (+)RGD
CHM1_12166,331,798 - 166,552,214 (+)NCBI
T2T-CHM13v2.02165,926,990 - 166,146,740 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024969   ⟹   NP_079245
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,572,336 - 165,689,407 (+)NCBI
GRCh372166,326,157 - 166,545,917 (+)RGD
Build 362166,137,136 - 166,245,458 (+)NCBI Archive
Celera2159,936,725 - 160,155,865 (+)RGD
HuRef2158,208,131 - 158,427,753 (+)RGD
CHM1_12166,434,662 - 166,552,214 (+)NCBI
T2T-CHM13v2.02166,029,590 - 166,146,740 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246865   ⟹   XP_005246922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,574,207 - 165,689,407 (+)NCBI
GRCh372166,326,157 - 166,545,917 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453155   ⟹   XP_024308923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,469,698 - 165,689,407 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445907   ⟹   XP_047301863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,574,207 - 165,689,407 (+)NCBI
RefSeq Acc Id: XM_047445908   ⟹   XP_047301864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,469,698 - 165,689,407 (+)NCBI
RefSeq Acc Id: XM_054344008   ⟹   XP_054199983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02166,030,474 - 166,146,740 (+)NCBI
RefSeq Acc Id: XM_054344009   ⟹   XP_054199984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02166,030,474 - 166,146,740 (+)NCBI
RefSeq Acc Id: XM_054344010   ⟹   XP_054199985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02165,926,990 - 166,146,740 (+)NCBI
RefSeq Acc Id: NP_001165644   ⟸   NM_001172173
- UniProtKB: Q8WYN3 (UniProtKB/Swiss-Prot),   Q6ZTX3 (UniProtKB/Swiss-Prot),   Q53SG0 (UniProtKB/Swiss-Prot),   B3KPR4 (UniProtKB/Swiss-Prot),   Q9HAF9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_079245   ⟸   NM_024969
- UniProtKB: Q8WYN3 (UniProtKB/Swiss-Prot),   Q6ZTX3 (UniProtKB/Swiss-Prot),   Q53SG0 (UniProtKB/Swiss-Prot),   B3KPR4 (UniProtKB/Swiss-Prot),   Q9HAF9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246922   ⟸   XM_005246865
- Peptide Label: isoform X2
- UniProtKB: J3KQ49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308923   ⟸   XM_024453155
- Peptide Label: isoform X3
- UniProtKB: Q8WYN3 (UniProtKB/Swiss-Prot),   Q6ZTX3 (UniProtKB/Swiss-Prot),   Q53SG0 (UniProtKB/Swiss-Prot),   B3KPR4 (UniProtKB/Swiss-Prot),   Q9HAF9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000498841   ⟸   ENST00000651982
Ensembl Acc Id: ENSP00000318258   ⟸   ENST00000314499
Ensembl Acc Id: ENSP00000386278   ⟸   ENST00000409664
Ensembl Acc Id: ENSP00000387195   ⟸   ENST00000409420
Ensembl Acc Id: ENSP00000344042   ⟸   ENST00000342316
Ensembl Acc Id: ENSP00000412081   ⟸   ENST00000421875
RefSeq Acc Id: XP_047301864   ⟸   XM_047445908
- Peptide Label: isoform X3
- UniProtKB: Q8WYN3 (UniProtKB/Swiss-Prot),   Q6ZTX3 (UniProtKB/Swiss-Prot),   Q53SG0 (UniProtKB/Swiss-Prot),   B3KPR4 (UniProtKB/Swiss-Prot),   Q9HAF9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301863   ⟸   XM_047445907
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199985   ⟸   XM_054344010
- Peptide Label: isoform X3
- UniProtKB: Q8WYN3 (UniProtKB/Swiss-Prot),   Q6ZTX3 (UniProtKB/Swiss-Prot),   Q53SG0 (UniProtKB/Swiss-Prot),   B3KPR4 (UniProtKB/Swiss-Prot),   Q9HAF9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054199983   ⟸   XM_054344008
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199984   ⟸   XM_054344009
- Peptide Label: isoform X2
- UniProtKB: J3KQ49 (UniProtKB/TrEMBL)
Protein Domains
Cysteine/serine-rich nuclear protein N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WYN3-F1-model_v2 AlphaFold Q8WYN3 1-585 view protein structure

Promoters
RGD ID:6861920
Promoter ID:EPDNEW_H4124
Type:initiation region
Name:CSRNP3_1
Description:cysteine and serine rich nuclear protein 3
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
GRCh382165,572,342 - 165,572,402EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30729 AgrOrtholog
COSMIC CSRNP3 COSMIC
Ensembl Genes ENSG00000178662 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314499.11 UniProtKB/Swiss-Prot
  ENST00000342316 ENTREZGENE
  ENST00000342316.8 UniProtKB/Swiss-Prot
  ENST00000409420 ENTREZGENE
  ENST00000409420.1 UniProtKB/TrEMBL
  ENST00000409664.5 UniProtKB/TrEMBL
  ENST00000421875.5 UniProtKB/TrEMBL
  ENST00000651982 ENTREZGENE
  ENST00000651982.1 UniProtKB/Swiss-Prot
GTEx ENSG00000178662 GTEx
HGNC ID HGNC:30729 ENTREZGENE
Human Proteome Map CSRNP3 Human Proteome Map
InterPro CSRNP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cys/Ser-rich_nuc_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80034 UniProtKB/Swiss-Prot
NCBI Gene 80034 ENTREZGENE
OMIM 620405 OMIM
PANTHER CYSTEINE/SERINE-RICH NUCLEAR PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13580 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CSRNP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164718184 PharmGKB
PRINTS CYSSERRICHNP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPR4 ENTREZGENE
  B8ZZD9_HUMAN UniProtKB/TrEMBL
  CSRN3_HUMAN UniProtKB/Swiss-Prot
  E7EN18_HUMAN UniProtKB/TrEMBL
  J3KQ49 ENTREZGENE, UniProtKB/TrEMBL
  Q53SG0 ENTREZGENE
  Q6ZTX3 ENTREZGENE
  Q8WYN3 ENTREZGENE
  Q9HAF9 ENTREZGENE
UniProt Secondary B3KPR4 UniProtKB/Swiss-Prot
  Q53SG0 UniProtKB/Swiss-Prot
  Q6ZTX3 UniProtKB/Swiss-Prot
  Q9HAF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 CSRNP3  cysteine and serine rich nuclear protein 3    cysteine-serine-rich nuclear protein 3  Symbol and/or name change 5135510 APPROVED