SSRP1 (structure specific recognition protein 1) - Rat Genome Database

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Gene: SSRP1 (structure specific recognition protein 1) Homo sapiens
Analyze
Symbol: SSRP1
Name: structure specific recognition protein 1
RGD ID: 734366
HGNC Page HGNC:11327
Description: Enables RNA binding activity. Involved in nucleosome disassembly and regulation of chromatin organization. Located in FACT complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: chromatin-specific transcription elongation factor 80 kDa subunit; cisplatin-DNA SSRP; facilitates chromatin remodeling 80 kDa subunit; facilitates chromatin transcription complex 80 kDa subunit; facilitates chromatin transcription complex subunit SSRP1; FACT; FACT 80 kDa subunit; FACT complex subunit SSRP1; FACT80; FACTp80; high mobility group box; hSSRP1; recombination signal sequence recognition protein 1; structure-specific recognition protein 1; T160
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
GRCh381157,325,988 - 57,335,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1157,325,986 - 57,335,892 (-)EnsemblGRCh38hg38GRCh38
GRCh371157,093,462 - 57,103,366 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361156,850,035 - 56,859,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 341156,850,035 - 56,859,927NCBI
Celera1154,452,485 - 54,462,377 (-)NCBICelera
Cytogenetic Map11q12.1NCBI
HuRef1153,442,342 - 53,452,234 (-)NCBIHuRef
CHM1_11156,959,569 - 56,969,461 (-)NCBICHM1_1
T2T-CHM13v2.01157,275,479 - 57,285,383 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclophosphamide  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
Enterolactone  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
imiquimod  (ISO)
iron(III) nitrilotriacetate  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
pyrethrins  (ISO)
resveratrol  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
topotecan  (ISO)
trimellitic anhydride  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromosome  (IEA)
FACT complex  (IBA,IPI)
nucleolus  (IEA)
nucleoplasm  (TAS)
nucleus  (IDA,IEA)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Histone chaperones in nucleosome assembly and human disease. Burgess RJ and Zhang Z, Nat Struct Mol Biol. 2013 Jan;20(1):14-22. doi: 10.1038/nsmb.2461.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Control of transcriptional elongation. Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Inhibition of transcription by platinum antitumor compounds. Todd RC and Lippard SJ, Metallomics. 2009;1(4):280-91. doi: 10.1039/b907567d.
6. The histone chaperone FACT: structural insights and mechanisms for nucleosome reorganization. Winkler DD and Luger K, J Biol Chem. 2011 May 27;286(21):18369-74. doi: 10.1074/jbc.R110.180778. Epub 2011 Mar 24.
Additional References at PubMed
PMID:1372440   PMID:2530581   PMID:7594592   PMID:9489704   PMID:9566881   PMID:9836642   PMID:10199952   PMID:10336466   PMID:10421373   PMID:10912001   PMID:11239457   PMID:11344167  
PMID:11824977   PMID:12101123   PMID:12374749   PMID:12393879   PMID:12477932   PMID:12676794   PMID:12934006   PMID:14559993   PMID:14660563   PMID:15009096   PMID:15034300   PMID:15047060  
PMID:15231747   PMID:15302935   PMID:15385968   PMID:15489334   PMID:15561718   PMID:15592455   PMID:15616580   PMID:15635413   PMID:15659405   PMID:16169070   PMID:16226712   PMID:16498457  
PMID:16522924   PMID:16622419   PMID:16682447   PMID:16713563   PMID:16730941   PMID:16902406   PMID:17081983   PMID:17209051   PMID:17403666   PMID:17672918   PMID:18029348   PMID:18036521  
PMID:18406329   PMID:19214185   PMID:19394292   PMID:19454010   PMID:19625449   PMID:19639603   PMID:19710137   PMID:19738201   PMID:19836239   PMID:19995907   PMID:20085707   PMID:20562859  
PMID:20599239   PMID:20603019   PMID:21055985   PMID:21113133   PMID:21145461   PMID:21232560   PMID:21280222   PMID:21362547   PMID:21549307   PMID:21679440   PMID:21873635   PMID:21907836  
PMID:21969370   PMID:22113938   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:22940245   PMID:23182705   PMID:23325844   PMID:23329831   PMID:23610384  
PMID:23839038   PMID:24357716   PMID:24457600   PMID:24711643   PMID:24981860   PMID:25000480   PMID:25028470   PMID:25184681   PMID:25659891   PMID:25693804   PMID:25720964   PMID:25817432  
PMID:25852190   PMID:25921289   PMID:25948554   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26378236   PMID:26496610   PMID:26511642   PMID:26527279   PMID:26549023   PMID:26638075  
PMID:26673895   PMID:26687053   PMID:26755331   PMID:26839216   PMID:26842758   PMID:26966247   PMID:27146025   PMID:27173435   PMID:27216501   PMID:27248496   PMID:27284163   PMID:27370399  
PMID:27467129   PMID:27525970   PMID:27634302   PMID:27637333   PMID:27647897   PMID:27684187   PMID:27926873   PMID:28065597   PMID:28077445   PMID:28192407   PMID:28218735   PMID:28302793  
PMID:28423528   PMID:28514442   PMID:28515276   PMID:28927264   PMID:28977666   PMID:29048646   PMID:29089422   PMID:29104064   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29357390  
PMID:29459360   PMID:29467282   PMID:29514976   PMID:29568061   PMID:29721183   PMID:29764934   PMID:29844126   PMID:29845934   PMID:29955894   PMID:30021884   PMID:30029006   PMID:30110629  
PMID:30344095   PMID:30404004   PMID:30415952   PMID:30425250   PMID:30462309   PMID:30463901   PMID:30479348   PMID:30508113   PMID:30548853   PMID:30554943   PMID:30559450   PMID:30585729  
PMID:30616889   PMID:30686591   PMID:30711629   PMID:30715484   PMID:30762286   PMID:30804502   PMID:30833792   PMID:30940648   PMID:30942445   PMID:30948266   PMID:30997501   PMID:31048545  
PMID:31076518   PMID:31091453   PMID:31239290   PMID:31409639   PMID:31439637   PMID:31527615   PMID:31575655   PMID:31586073   PMID:31685992   PMID:31753913   PMID:31775157   PMID:31839745  
PMID:31871319   PMID:31960591   PMID:31995728   PMID:32347575   PMID:32416067   PMID:32433965   PMID:32533099   PMID:32572027   PMID:32683582   PMID:32687490   PMID:32744500   PMID:32807901  
PMID:32877691   PMID:32937373   PMID:33022573   PMID:33024031   PMID:33104782   PMID:33239621   PMID:33298525   PMID:33301849   PMID:33644029   PMID:33658012   PMID:33688504   PMID:33742100  
PMID:33852836   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34111398   PMID:34133714   PMID:34162889   PMID:34244565   PMID:34271103   PMID:34373451   PMID:34551306  
PMID:34591612   PMID:34597346   PMID:34662580   PMID:34709727   PMID:34756889   PMID:34780483   PMID:34917906   PMID:35013218   PMID:35013515   PMID:35013556   PMID:35253629   PMID:35256949  
PMID:35271311   PMID:35338135   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35676659   PMID:35785414   PMID:35831314   PMID:35850772   PMID:35896951   PMID:35906200  
PMID:35944360   PMID:36057605   PMID:36089195   PMID:36168627   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36261009   PMID:36273042   PMID:36373674   PMID:36424410   PMID:36526897  
PMID:36574265   PMID:36577379   PMID:36835656   PMID:36912080   PMID:36931259   PMID:37084412   PMID:37616343   PMID:37689310   PMID:37827155   PMID:37866880   PMID:38113892   PMID:38172120  
PMID:38280479  


Genomics

Comparative Map Data
SSRP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381157,325,988 - 57,335,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1157,325,986 - 57,335,892 (-)EnsemblGRCh38hg38GRCh38
GRCh371157,093,462 - 57,103,366 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361156,850,035 - 56,859,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 341156,850,035 - 56,859,927NCBI
Celera1154,452,485 - 54,462,377 (-)NCBICelera
Cytogenetic Map11q12.1NCBI
HuRef1153,442,342 - 53,452,234 (-)NCBIHuRef
CHM1_11156,959,569 - 56,969,461 (-)NCBICHM1_1
T2T-CHM13v2.01157,275,479 - 57,285,383 (-)NCBIT2T-CHM13v2.0
Ssrp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39284,867,519 - 84,877,453 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl284,867,578 - 84,877,453 (+)EnsemblGRCm39 Ensembl
GRCm38285,037,120 - 85,047,114 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl285,037,234 - 85,047,109 (+)EnsemblGRCm38mm10GRCm38
MGSCv37284,877,358 - 84,887,268 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36284,838,111 - 84,847,948 (+)NCBIMGSCv36mm8
Celera286,635,959 - 86,645,881 (+)NCBICelera
Cytogenetic Map2DNCBI
cM Map249.45NCBI
Ssrp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8390,531,024 - 90,541,132 (+)NCBIGRCr8
mRatBN7.2370,124,371 - 70,134,481 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl370,118,655 - 70,134,482 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx373,506,551 - 73,516,201 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0382,105,226 - 82,114,876 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0379,863,689 - 79,873,336 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0372,447,516 - 72,457,621 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl372,447,537 - 72,457,649 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0378,958,172 - 78,968,279 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4368,272,947 - 68,282,596 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1368,171,697 - 68,178,968 (+)NCBI
Celera369,475,838 - 69,485,487 (+)NCBICelera
Cytogenetic Map3q24NCBI
Ssrp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555112,378,652 - 2,388,198 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555112,378,720 - 2,388,201 (-)NCBIChiLan1.0ChiLan1.0
SSRP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2958,483,009 - 58,493,021 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11159,499,965 - 59,509,977 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01152,567,420 - 52,577,324 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13160,058,404 - 160,068,177 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3160,057,285 - 160,068,177 (-)Ensemblpanpan1.1panPan2
SSRP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11838,802,673 - 38,812,134 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1838,802,619 - 38,812,131 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1838,347,858 - 38,357,705 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01839,483,634 - 39,493,482 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1839,483,620 - 39,493,473 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11839,066,225 - 39,076,070 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01838,639,716 - 38,649,560 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01839,270,489 - 39,280,337 (+)NCBIUU_Cfam_GSD_1.0
Ssrp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494715,034,264 - 15,043,808 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365815,148,050 - 5,157,667 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365815,148,108 - 5,157,630 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SSRP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl213,619,716 - 13,629,227 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1213,619,666 - 13,629,233 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2213,382,515 - 13,392,033 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SSRP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1115,907,874 - 15,918,376 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl115,908,495 - 15,918,596 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038113,251,412 - 113,261,626 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ssrp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248643,253,639 - 3,262,105 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SSRP1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q12.1(chr11:57047366-57372313)x3 copy number gain See cases [RCV000138413] Chr11:57047366..57372313 [GRCh38]
Chr11:56814841..57139786 [GRCh37]
Chr11:56571417..56896362 [NCBI36]
Chr11:11q12.1		 likely benign
GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3 copy number gain See cases [RCV000141200] Chr11:55316535..57539457 [GRCh38]
Chr11:55084011..57306930 [GRCh37]
Chr11:54840587..57063506 [NCBI36]
Chr11:11q11-12.1		 uncertain significance
GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 copy number gain See cases [RCV000142757] Chr11:55319519..58998777 [GRCh38]
Chr11:55086995..58766250 [GRCh37]
Chr11:54843571..58522826 [NCBI36]
Chr11:11q11-12.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003146.3(SSRP1):c.236A>T (p.Glu79Val) single nucleotide variant Inborn genetic diseases [RCV003274870] Chr11:57334467 [GRCh38]
Chr11:57101941 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3 copy number gain not provided [RCV000683370] Chr11:49313405..59008426 [GRCh37]
Chr11:11p11.12-q12.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003146.3(SSRP1):c.466G>A (p.Ala156Thr) single nucleotide variant Inborn genetic diseases [RCV003244669] Chr11:57333030 [GRCh38]
Chr11:57100504 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.255C>G (p.Leu85=) single nucleotide variant not provided [RCV000967202] Chr11:57333526 [GRCh38]
Chr11:57101000 [GRCh37]
Chr11:11q12.1		 benign
NM_003146.3(SSRP1):c.2070A>G (p.Glu690=) single nucleotide variant not provided [RCV000962140] Chr11:57326467 [GRCh38]
Chr11:57093941 [GRCh37]
Chr11:11q12.1		 benign
Single allele duplication not provided [RCV000844966] Chr11:55033164..57518726 [GRCh37]
Chr11:11q11-12.1		 not provided
NM_003146.3(SSRP1):c.1927C>A (p.Pro643Thr) single nucleotide variant Inborn genetic diseases [RCV003249391] Chr11:57326834 [GRCh38]
Chr11:57094308 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.498C>T (p.Tyr166=) single nucleotide variant not provided [RCV000950201] Chr11:57332998 [GRCh38]
Chr11:57100472 [GRCh37]
Chr11:11q12.1		 benign
NM_003146.3(SSRP1):c.80G>A (p.Arg27His) single nucleotide variant not provided [RCV000954719] Chr11:57334623 [GRCh38]
Chr11:57102097 [GRCh37]
Chr11:11q12.1		 likely benign
NM_003146.3(SSRP1):c.28G>A (p.Val10Ile) single nucleotide variant not provided [RCV000889511] Chr11:57335094 [GRCh38]
Chr11:57102568 [GRCh37]
Chr11:11q12.1		 likely benign
GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3 copy number gain not provided [RCV002473570] Chr11:56637024..57361915 [GRCh37]
Chr11:11q12.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3 copy number gain not provided [RCV001829225] Chr11:57037091..57453575 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_003146.3(SSRP1):c.1691A>T (p.Lys564Met) single nucleotide variant Inborn genetic diseases [RCV003287188] Chr11:57327803 [GRCh38]
Chr11:57095277 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.499G>A (p.Val167Ile) single nucleotide variant Inborn genetic diseases [RCV002754440] Chr11:57332997 [GRCh38]
Chr11:57100471 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.2077C>G (p.Leu693Val) single nucleotide variant Inborn genetic diseases [RCV002883277] Chr11:57326460 [GRCh38]
Chr11:57093934 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.607C>T (p.Arg203Trp) single nucleotide variant Inborn genetic diseases [RCV002912115] Chr11:57332786 [GRCh38]
Chr11:57100260 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.1726G>A (p.Asp576Asn) single nucleotide variant Inborn genetic diseases [RCV002762949] Chr11:57327768 [GRCh38]
Chr11:57095242 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.197C>T (p.Thr66Ile) single nucleotide variant Inborn genetic diseases [RCV002714042] Chr11:57334506 [GRCh38]
Chr11:57101980 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003146.3(SSRP1):c.2074G>C (p.Glu692Gln) single nucleotide variant Inborn genetic diseases [RCV002679599] Chr11:57326463 [GRCh38]
Chr11:57093937 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:891
Count of miRNA genes:605
Interacting mature miRNAs:684
Transcripts:ENST00000278412, ENST00000293880, ENST00000526696, ENST00000529002
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-30227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,493 - 57,093,617UniSTSGRCh37
Build 361156,850,069 - 56,850,193RGDNCBI36
Celera1154,452,519 - 54,452,643RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map11q12.1UniSTS
HuRef1153,442,376 - 53,442,500UniSTS
Stanford-G3 RH Map112417.0UniSTS
GeneMap99-GB4 RH Map11201.19UniSTS
Whitehead-RH Map11281.9UniSTS
NCBI RH Map11429.3UniSTS
GeneMap99-G3 RH Map112417.0UniSTS
GDB:197864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,615 - 57,093,776UniSTSGRCh37
Build 361156,850,191 - 56,850,352RGDNCBI36
Celera1154,452,641 - 54,452,802RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map11q12.1UniSTS
HuRef1153,442,498 - 53,442,659UniSTS
RH47161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,530 - 57,093,617UniSTSGRCh37
Build 361156,850,106 - 56,850,193RGDNCBI36
Celera1154,452,556 - 54,452,643RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map11q12.1UniSTS
HuRef1153,442,413 - 53,442,500UniSTS
GeneMap99-GB4 RH Map11200.4UniSTS
NCBI RH Map11425.4UniSTS
SSRP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,702 - 57,093,874UniSTSGRCh37
Build 361156,850,278 - 56,850,450RGDNCBI36
Celera1154,452,728 - 54,452,900RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map11q12.1UniSTS
HuRef1153,442,585 - 53,442,757UniSTS
GeneMap99-GB4 RH Map11214.67UniSTS
WI-9146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,687 - 57,093,804UniSTSGRCh37
Build 361156,850,263 - 56,850,380RGDNCBI36
Celera1154,452,713 - 54,452,830RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map11q12.1UniSTS
HuRef1153,442,570 - 53,442,687UniSTS
GeneMap99-GB4 RH Map11199.73UniSTS
Whitehead-RH Map11280.1UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11429.3UniSTS
RH17745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,762 - 57,093,913UniSTSGRCh37
Build 361156,850,338 - 56,850,489RGDNCBI36
Celera1154,452,788 - 54,452,939RGD
Cytogenetic Map11q12UniSTS
Cytogenetic Map11q12.1UniSTS
HuRef1153,442,645 - 53,442,796UniSTS
GeneMap99-GB4 RH Map11214.67UniSTS
SSRP1_3468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,093,397 - 57,093,895UniSTSGRCh37
Build 361156,849,973 - 56,850,471RGDNCBI36
Celera1154,452,423 - 54,452,921RGD
HuRef1153,442,280 - 53,442,778UniSTS


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 2432 2775 1693 594 1800 436 4355 2131 3669 413 1448 1606 171 1204 2788 4
Low 4 214 31 29 151 29 1 66 60 5 11 5 1 1 1
Below cutoff 1 2 5 1 1 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000278412   ⟹   ENSP00000278412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,325,988 - 57,335,892 (-)Ensembl
RefSeq Acc Id: ENST00000293880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,325,986 - 57,335,851 (-)Ensembl
RefSeq Acc Id: ENST00000526696   ⟹   ENSP00000431154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,332,445 - 57,335,473 (-)Ensembl
RefSeq Acc Id: ENST00000529002   ⟹   ENSP00000434546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,332,835 - 57,335,873 (-)Ensembl
RefSeq Acc Id: ENST00000635721   ⟹   ENSP00000489564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,326,872 - 57,330,927 (-)Ensembl
RefSeq Acc Id: NM_003146   ⟹   NP_003137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,325,988 - 57,335,892 (-)NCBI
GRCh371157,093,459 - 57,103,351 (-)ENTREZGENE
GRCh371157,093,459 - 57,103,351 (-)NCBI
Build 361156,850,035 - 56,859,927 (-)NCBI Archive
HuRef1153,442,342 - 53,452,234 (-)ENTREZGENE
CHM1_11156,959,569 - 56,969,461 (-)NCBI
T2T-CHM13v2.01157,275,479 - 57,285,383 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018180   ⟹   XP_016873669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,325,988 - 57,335,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427498   ⟹   XP_047283454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,325,988 - 57,335,892 (-)NCBI
RefSeq Acc Id: XM_047427499   ⟹   XP_047283455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,330,415 - 57,335,892 (-)NCBI
RefSeq Acc Id: XM_054369756   ⟹   XP_054225731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,275,479 - 57,285,377 (-)NCBI
RefSeq Acc Id: XM_054369757   ⟹   XP_054225732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,275,479 - 57,285,383 (-)NCBI
RefSeq Acc Id: XM_054369758   ⟹   XP_054225733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,279,906 - 57,285,361 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003137   ⟸   NM_003146
- UniProtKB: Q5BJG8 (UniProtKB/Swiss-Prot),   Q08945 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016873669   ⟸   XM_017018180
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000489564   ⟸   ENST00000635721
RefSeq Acc Id: ENSP00000431154   ⟸   ENST00000526696
RefSeq Acc Id: ENSP00000278412   ⟸   ENST00000278412
RefSeq Acc Id: ENSP00000434546   ⟸   ENST00000529002
RefSeq Acc Id: XP_047283454   ⟸   XM_047427498
- Peptide Label: isoform X2
- UniProtKB: Q08945 (UniProtKB/Swiss-Prot),   Q5BJG8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283455   ⟸   XM_047427499
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225732   ⟸   XM_054369757
- Peptide Label: isoform X2
- UniProtKB: Q08945 (UniProtKB/Swiss-Prot),   Q5BJG8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054225731   ⟸   XM_054369756
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225733   ⟸   XM_054369758
- Peptide Label: isoform X3
Protein Domains
FACT complex subunit SSRP1-like first PH   HMG box   SSRP1 dimerization

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08945-F1-model_v2 AlphaFold Q08945 1-709 view protein structure

Promoters
RGD ID:6789402
Promoter ID:HG_KWN:12915
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:ENST00000293880,   NM_003146
Position:
Human AssemblyChrPosition (strand)Source
Build 361156,859,341 - 56,860,062 (-)MPROMDB
RGD ID:7220311
Promoter ID:EPDNEW_H15901
Type:initiation region
Name:SSRP1_1
Description:structure specific recognition protein 1
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
GRCh381157,335,868 - 57,335,928EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11327 AgrOrtholog
COSMIC SSRP1 COSMIC
Ensembl Genes ENSG00000149136 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278412 ENTREZGENE
  ENST00000278412.7 UniProtKB/Swiss-Prot
  ENST00000526696.6 UniProtKB/TrEMBL
  ENST00000529002.2 UniProtKB/TrEMBL
  ENST00000635721.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000149136 GTEx
HGNC ID HGNC:11327 ENTREZGENE
Human Proteome Map SSRP1 Human Proteome Map
InterPro DUF1747 UniProtKB/Swiss-Prot
  HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot
  POB3_N UniProtKB/Swiss-Prot
  SSrcognition UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSRP1-like_PH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSRP1_C UniProtKB/Swiss-Prot
  SSRP1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSRP1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6749 UniProtKB/Swiss-Prot
NCBI Gene 6749 ENTREZGENE
OMIM 604328 OMIM
PANTHER FACT COMPLEX SUBUNIT SSRP1 UniProtKB/Swiss-Prot
  FACT COMPLEX SUBUNIT SSRP1 UniProtKB/Swiss-Prot
  FACT COMPLEX SUBUNIT SSRP1 UniProtKB/TrEMBL
  FACT COMPLEX SUBUNIT SSRP1 UniProtKB/TrEMBL
Pfam HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH1_SSRP1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POB3_N UniProtKB/Swiss-Prot
  Rtt106 UniProtKB/Swiss-Prot
  SSrecog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSRP1_C UniProtKB/Swiss-Prot
PharmGKB PA36151 PharmGKB
PRINTS HIGHMOBLTY12 UniProtKB/TrEMBL
  SSRCOGNITION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rtt106 UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RRK2_HUMAN UniProtKB/TrEMBL
  E9PMD4_HUMAN UniProtKB/TrEMBL
  E9PPZ7_HUMAN UniProtKB/TrEMBL
  L8EA29_HUMAN UniProtKB/TrEMBL
  Q08945 ENTREZGENE
  Q5BJG8 ENTREZGENE
  SSRP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5BJG8 UniProtKB/Swiss-Prot