SSBP1 (single stranded DNA binding protein 1) - Rat Genome Database

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Gene: SSBP1 (single stranded DNA binding protein 1) Homo sapiens
Analyze
Symbol: SSBP1
Name: single stranded DNA binding protein 1
RGD ID: 736464
HGNC Page HGNC:11317
Description: Enables chromatin binding activity; protein homodimerization activity; and single-stranded DNA binding activity. Involved in DNA unwinding involved in DNA replication; positive regulation of mitochondrial DNA replication; and protein homotetramerization. Located in mitochondrial nucleoid. Implicated in optic atrophy.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Mt-SSB; mtSSB; OPA13; PWP1-interacting protein 17; single-stranded DNA binding protein 1, mitochondrial; single-stranded DNA-binding protein, mitochondrial; SOSS-B1; SSBP
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
GRCh387141,738,321 - 141,750,488 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7141,738,334 - 141,787,922 (+)EnsemblGRCh38hg38GRCh38
GRCh377141,438,121 - 141,450,288 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367141,084,645 - 141,096,726 (+)NCBINCBI36Build 36hg18NCBI36
Build 347140,891,359 - 140,903,441NCBI
Celera7136,159,808 - 136,171,889 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBIHuRef
CHM1_17141,372,469 - 141,384,636 (+)NCBICHM1_1
T2T-CHM13v2.07143,054,147 - 143,066,314 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
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
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
aconitine  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
crocidolite asbestos  (ISO)
cycloheximide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dimethyl fumarate  (ISO)
disodium selenite  (EXP)
diuron  (EXP)
dopamine  (EXP)
doxorubicin  (EXP)
enalapril  (ISO)
enniatin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenol red  (EXP)
pinosylvin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
quercetin  (EXP)
rotenone  (EXP,ISO)
selenomethionine  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trans-pinosylvin  (EXP)
triptonide  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7789991   PMID:8482537   PMID:9033597   PMID:9452467   PMID:10827171   PMID:11556757   PMID:11964388   PMID:12381786   PMID:12464025   PMID:12477932   PMID:12479417   PMID:12690205  
PMID:12853948   PMID:12975372   PMID:15161933   PMID:15167897   PMID:15342556   PMID:15489334   PMID:15710247   PMID:16407974   PMID:16428295   PMID:18029348   PMID:18063578   PMID:18305033  
PMID:18457437   PMID:19066201   PMID:19167051   PMID:19683501   PMID:19738201   PMID:19759019   PMID:19786724   PMID:20000738   PMID:20028516   PMID:20100872   PMID:20186120   PMID:20360068  
PMID:20434493   PMID:20458337   PMID:20843780   PMID:20877624   PMID:21145461   PMID:21150319   PMID:21242961   PMID:21280222   PMID:21319273   PMID:21360678   PMID:21630459   PMID:21659603  
PMID:21873635   PMID:21953457   PMID:22153281   PMID:22190034   PMID:22242598   PMID:22354994   PMID:22453275   PMID:22658674   PMID:22681889   PMID:22939629   PMID:23042605   PMID:23184057  
PMID:23246001   PMID:23290262   PMID:23398456   PMID:23438482   PMID:23443559   PMID:23568457   PMID:23986477   PMID:24244333   PMID:24337577   PMID:24797263   PMID:24981860   PMID:25036637  
PMID:25192599   PMID:25228645   PMID:25249620   PMID:25437307   PMID:25582440   PMID:25762445   PMID:25798074   PMID:25852190   PMID:26058080   PMID:26170237   PMID:26344197   PMID:26354767  
PMID:26446790   PMID:26496610   PMID:26527279   PMID:26549023   PMID:26618866   PMID:26638075   PMID:26725010   PMID:26972000   PMID:26979993   PMID:27025967   PMID:27248496   PMID:27432908  
PMID:27503909   PMID:27545878   PMID:27637333   PMID:27938330   PMID:27976729   PMID:28192407   PMID:28210897   PMID:28448822   PMID:28486639   PMID:28515276   PMID:28609781   PMID:28615444  
PMID:28700943   PMID:28718761   PMID:28778884   PMID:29117863   PMID:29128334   PMID:29182774   PMID:29229926   PMID:29331416   PMID:29346117   PMID:29395067   PMID:29467282   PMID:29476094  
PMID:29507755   PMID:29509794   PMID:29522991   PMID:29568061   PMID:29577982   PMID:29791485   PMID:29795372   PMID:29845934   PMID:29961565   PMID:29991678   PMID:30033366   PMID:30166453  
PMID:30196744   PMID:30209976   PMID:30256971   PMID:30349055   PMID:30412255   PMID:30415472   PMID:30455355   PMID:30715486   PMID:30833792   PMID:30948266   PMID:31056398   PMID:31056421  
PMID:31091453   PMID:31182584   PMID:31239290   PMID:31298765   PMID:31324722   PMID:31353912   PMID:31405213   PMID:31409639   PMID:31536960   PMID:31550237   PMID:31550240   PMID:31586073  
PMID:31617661   PMID:31871319   PMID:31980649   PMID:31998294   PMID:32041737   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32628020   PMID:32665550   PMID:32687490   PMID:32780723  
PMID:32807901   PMID:32812023   PMID:32877691   PMID:32905556   PMID:32937373   PMID:32941674   PMID:33087282   PMID:33194618   PMID:33306668   PMID:33499712   PMID:33545068   PMID:33644029  
PMID:33671400   PMID:33711283   PMID:33729478   PMID:33731348   PMID:33845483   PMID:33847964   PMID:33847965   PMID:33847968   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34226595  
PMID:34373451   PMID:34383978   PMID:34537242   PMID:34548540   PMID:34597346   PMID:34709727   PMID:34841685   PMID:34905022   PMID:35013218   PMID:35032548   PMID:35073964   PMID:35140242  
PMID:35240818   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35563538   PMID:35676659   PMID:35831314   PMID:35850772   PMID:35906200   PMID:36089195   PMID:36114006   PMID:36180956  
PMID:36215168   PMID:36244648   PMID:36273042   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36724073   PMID:36912080   PMID:37120454   PMID:37616343   PMID:38113892   PMID:38172120  
PMID:38297188  


Genomics

Comparative Map Data
SSBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387141,738,321 - 141,750,488 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7141,738,334 - 141,787,922 (+)EnsemblGRCh38hg38GRCh38
GRCh377141,438,121 - 141,450,288 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367141,084,645 - 141,096,726 (+)NCBINCBI36Build 36hg18NCBI36
Build 347140,891,359 - 140,903,441NCBI
Celera7136,159,808 - 136,171,889 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBIHuRef
CHM1_17141,372,469 - 141,384,636 (+)NCBICHM1_1
T2T-CHM13v2.07143,054,147 - 143,066,314 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Ssbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39640,448,302 - 40,458,757 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl640,448,286 - 40,461,634 (+)EnsemblGRCm39 Ensembl
GRCm38640,471,414 - 40,481,823 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl640,471,352 - 40,484,700 (+)EnsemblGRCm38mm10GRCm38
MGSCv37640,421,414 - 40,431,822 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36640,401,022 - 40,411,430 (+)NCBIMGSCv36mm8
Celera640,458,830 - 40,469,238 (+)NCBICelera
Cytogenetic Map6B1NCBI
cM Map618.82NCBI
Ssbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8470,232,740 - 70,242,824 (+)NCBIGRCr8
mRatBN7.2469,266,024 - 69,276,135 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl469,266,102 - 69,276,135 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx474,194,304 - 74,204,330 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0470,115,458 - 70,125,484 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0468,526,940 - 68,536,969 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0468,634,844 - 68,645,112 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl468,634,929 - 68,645,172 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04133,421,333 - 133,430,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4468,027,304 - 68,036,581 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1468,302,749 - 68,312,711 (+)NCBI
Celera464,269,091 - 64,279,111 (+)NCBICelera
Cytogenetic Map4q23NCBI
Ssbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554941,814,106 - 1,826,375 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554941,807,885 - 1,826,375 (-)NCBIChiLan1.0ChiLan1.0
SSBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26178,524,904 - 178,539,330 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1730,535,126 - 30,549,585 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07133,670,085 - 133,682,228 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17146,139,837 - 146,151,495 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7146,139,837 - 146,151,495 (+)Ensemblpanpan1.1panPan2
SSBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1167,445,351 - 7,461,513 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl167,451,444 - 7,461,464 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha168,296,558 - 8,306,117 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0167,366,951 - 7,383,090 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl167,372,962 - 7,383,068 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1167,326,794 - 7,336,352 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0167,169,166 - 7,178,723 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0167,236,927 - 7,246,487 (-)NCBIUU_Cfam_GSD_1.0
Ssbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511813,579,280 - 13,608,032 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365925,614,619 - 5,619,627 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365925,611,775 - 5,620,846 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SSBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl188,151,029 - 8,167,983 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1188,084,292 - 8,167,983 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2188,443,269 - 8,460,494 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SSBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121110,492,340 - 110,504,176 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21110,492,377 - 110,504,177 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660727,170,863 - 7,182,714 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ssbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476521,746,794 - 21,761,258 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476521,746,633 - 21,771,234 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SSBP1
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35		 benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_003143.3(SSBP1):c.166A>G (p.Ile56Val) single nucleotide variant not provided [RCV001200298] Chr7:141743641 [GRCh38]
Chr7:141443441 [GRCh37]
Chr7:7q34		 uncertain significance
NM_003143.3(SSBP1):c.394A>G (p.Ile132Val) single nucleotide variant not provided [RCV001255188] Chr7:141745575 [GRCh38]
Chr7:141445375 [GRCh37]
Chr7:7q34		 uncertain significance
NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn) single nucleotide variant Optic atrophy 13 with retinal and foveal abnormalities [RCV001255186] Chr7:141750329 [GRCh38]
Chr7:141450129 [GRCh37]
Chr7:7q34		 pathogenic
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) single nucleotide variant Cone-rod dystrophy [RCV003324557]|Optic atrophy 13 with retinal and foveal abnormalities [RCV001255184] Chr7:141743588 [GRCh38]
Chr7:141443388 [GRCh37]
Chr7:7q34		 pathogenic
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val) single nucleotide variant Optic atrophy 13 with retinal and foveal abnormalities [RCV001255187] Chr7:141743594 [GRCh38]
Chr7:141443394 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) single nucleotide variant Optic atrophy 13 with retinal and foveal abnormalities [RCV001255185]|not provided [RCV001268036] Chr7:141745501 [GRCh38]
Chr7:141445301 [GRCh37]
Chr7:7q34		 pathogenic
NC_000007.13:g.141443350_142460881dup duplication Hereditary pancreatitis [RCV001250209] Chr7:141443350..142460881 [GRCh37]
Chr7:7q34		 pathogenic
NM_016944.2(TAS2R4):c.620_621del (p.Ile207fs) microsatellite not specified [RCV002248876] Chr7:141779105..141779106 [GRCh38]
Chr7:141478905..141478906 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_137761265)_(141759786_?)dup duplication not provided [RCV002014827] Chr7:137761265..141759786 [GRCh37]
Chr7:7q33-34		 uncertain significance
NC_000007.13:g.(?_138391369)_(141759786_?)del deletion RASopathy [RCV003113440]|not provided [RCV003109447] Chr7:138391369..141759786 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_003143.3(SSBP1):c.32G>A (p.Arg11His) single nucleotide variant Inborn genetic diseases [RCV003003865] Chr7:141742176 [GRCh38]
Chr7:141441976 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_003143.3(SSBP1):c.25G>A (p.Val9Ile) single nucleotide variant not provided [RCV003334296] Chr7:141742169 [GRCh38]
Chr7:141441969 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_003143.3(SSBP1):c.259A>C (p.Ile87Leu) single nucleotide variant Inborn genetic diseases [RCV003379853] Chr7:141743934 [GRCh38]
Chr7:141443734 [GRCh37]
Chr7:7q34		 uncertain significance
NM_003143.3(SSBP1):c.35A>G (p.Gln12Arg) single nucleotide variant Inborn genetic diseases [RCV003376103] Chr7:141742179 [GRCh38]
Chr7:141441979 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_003143.3(SSBP1):c.25-7T>A single nucleotide variant not provided [RCV003886184] Chr7:141742162 [GRCh38]
Chr7:141441962 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q34(chr7:140426294-141883173)x1 copy number loss not provided [RCV003885518] Chr7:140426294..141883173 [GRCh37]
Chr7:7q34		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1474
Count of miRNA genes:676
Interacting mature miRNAs:756
Transcripts:ENST00000265304, ENST00000461433, ENST00000463093, ENST00000465167, ENST00000465582, ENST00000467681, ENST00000468267, ENST00000469123, ENST00000473783, ENST00000481508, ENST00000484178, ENST00000489378, ENST00000496622, ENST00000498107
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-17072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,450,116 - 141,450,242UniSTSGRCh37
Build 367141,096,585 - 141,096,711RGDNCBI36
Celera7136,171,748 - 136,171,874RGD
Cytogenetic Map7q34UniSTS
HuRef7135,746,798 - 135,746,924UniSTS
CRA_TCAGchr7v27140,787,835 - 140,787,961UniSTS
GeneMap99-GB4 RH Map7649.95UniSTS
Whitehead-RH Map7623.6UniSTS
RH47311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,450,122 - 141,450,242UniSTSGRCh37
Build 367141,096,591 - 141,096,711RGDNCBI36
Celera7136,171,754 - 136,171,874RGD
Cytogenetic Map7q34UniSTS
HuRef7135,746,804 - 135,746,924UniSTS
CRA_TCAGchr7v27140,787,841 - 140,787,961UniSTS
GeneMap99-GB4 RH Map7649.95UniSTS
D7S2022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,449,924 - 141,450,075UniSTSGRCh37
Build 367141,096,393 - 141,096,544RGDNCBI36
Celera7136,171,556 - 136,171,707RGD
Cytogenetic Map7q34UniSTS
HuRef7135,746,606 - 135,746,757UniSTS
CRA_TCAGchr7v27140,787,643 - 140,787,794UniSTS
WI-22640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,450,121 - 141,450,245UniSTSGRCh37
Build 367141,096,590 - 141,096,714RGDNCBI36
Celera7136,171,753 - 136,171,877RGD
Cytogenetic Map7q34UniSTS
HuRef7135,746,803 - 135,746,927UniSTS
CRA_TCAGchr7v27140,787,840 - 140,787,964UniSTS
GeneMap99-GB4 RH Map7647.79UniSTS
Whitehead-RH Map7622.9UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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 2438 2738 1694 592 1766 434 4357 2129 3632 413 1460 1611 175 1 1203 2788 6 2
Low 1 253 32 32 185 31 68 102 6 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF277319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF131408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG030060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP308841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ959702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU532904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB464012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265304   ⟹   ENSP00000265304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,358 - 141,750,488 (+)Ensembl
RefSeq Acc Id: ENST00000461433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,401 - 141,740,714 (+)Ensembl
RefSeq Acc Id: ENST00000463093   ⟹   ENSP00000419579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,401 - 141,745,545 (+)Ensembl
RefSeq Acc Id: ENST00000465167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,406 - 141,750,332 (+)Ensembl
RefSeq Acc Id: ENST00000465582   ⟹   ENSP00000420485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,400 - 141,787,922 (+)Ensembl
RefSeq Acc Id: ENST00000467681   ⟹   ENSP00000418068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,396 - 141,750,314 (+)Ensembl
RefSeq Acc Id: ENST00000468267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,409 - 141,739,756 (+)Ensembl
RefSeq Acc Id: ENST00000469123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,391 - 141,750,456 (+)Ensembl
RefSeq Acc Id: ENST00000473783   ⟹   ENSP00000418181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,603 - 141,742,229 (+)Ensembl
RefSeq Acc Id: ENST00000481508   ⟹   ENSP00000419665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,607 - 141,750,461 (+)Ensembl
RefSeq Acc Id: ENST00000484178   ⟹   ENSP00000419388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,600 - 141,750,461 (+)Ensembl
RefSeq Acc Id: ENST00000489378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,365 - 141,746,526 (+)Ensembl
RefSeq Acc Id: ENST00000496622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,358 - 141,741,690 (+)Ensembl
RefSeq Acc Id: ENST00000498107   ⟹   ENSP00000419541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,358 - 141,750,354 (+)Ensembl
RefSeq Acc Id: ENST00000612337   ⟹   ENSP00000480488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7141,738,334 - 141,750,488 (+)Ensembl
RefSeq Acc Id: NM_001256510   ⟹   NP_001243439
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,607 - 141,750,488 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBI
CHM1_17141,372,755 - 141,384,636 (+)NCBI
T2T-CHM13v2.07143,054,433 - 143,066,314 (+)NCBI
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256511   ⟹   NP_001243440
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,750,488 (+)NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBI
CHM1_17141,372,469 - 141,384,636 (+)NCBI
T2T-CHM13v2.07143,054,147 - 143,066,314 (+)NCBI
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256512   ⟹   NP_001243441
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,750,488 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBI
CHM1_17141,372,469 - 141,384,636 (+)NCBI
T2T-CHM13v2.07143,054,147 - 143,066,314 (+)NCBI
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256513   ⟹   NP_001243442
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,750,488 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBI
CHM1_17141,372,469 - 141,384,636 (+)NCBI
T2T-CHM13v2.07143,054,147 - 143,066,314 (+)NCBI
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003143   ⟹   NP_003134
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,358 - 141,750,488 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
Build 367141,084,645 - 141,096,726 (+)NCBI Archive
HuRef7135,734,891 - 135,746,970 (+)NCBI
CHM1_17141,372,469 - 141,384,636 (+)NCBI
T2T-CHM13v2.07143,054,184 - 143,066,314 (+)NCBI
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046269
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,750,488 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
HuRef7135,734,891 - 135,746,970 (+)NCBI
CHM1_17141,372,469 - 141,384,636 (+)NCBI
T2T-CHM13v2.07143,054,147 - 143,066,314 (+)NCBI
CRA_TCAGchr7v27140,775,840 - 140,788,007 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250048   ⟹   XP_005250105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,358 - 141,747,337 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250049   ⟹   XP_005250106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,747,337 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250050   ⟹   XP_005250107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,747,337 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250051   ⟹   XP_005250108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387141,738,321 - 141,747,337 (+)NCBI
GRCh377141,438,121 - 141,450,288 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054358892   ⟹   XP_054214867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07143,054,184 - 143,063,163 (+)NCBI
RefSeq Acc Id: XM_054358893   ⟹   XP_054214868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07143,054,147 - 143,063,163 (+)NCBI
RefSeq Acc Id: XM_054358894   ⟹   XP_054214869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07143,054,147 - 143,063,163 (+)NCBI
RefSeq Acc Id: XM_054358895   ⟹   XP_054214870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07143,054,147 - 143,063,163 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001243439 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243442 (Get FASTA)   NCBI Sequence Viewer  
  NP_003134 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250105 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250106 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250107 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214867 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214868 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214869 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214870 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36332 (Get FASTA)   NCBI Sequence Viewer  
  AAH00895 (Get FASTA)   NCBI Sequence Viewer  
  AAH08402 (Get FASTA)   NCBI Sequence Viewer  
  AAH93054 (Get FASTA)   NCBI Sequence Viewer  
  AAK69112 (Get FASTA)   NCBI Sequence Viewer  
  AAS02037 (Get FASTA)   NCBI Sequence Viewer  
  ADP92054 (Get FASTA)   NCBI Sequence Viewer  
  ADP92055 (Get FASTA)   NCBI Sequence Viewer  
  ADP92056 (Get FASTA)   NCBI Sequence Viewer  
  ADP92057 (Get FASTA)   NCBI Sequence Viewer  
  ADP92058 (Get FASTA)   NCBI Sequence Viewer  
  ADP92059 (Get FASTA)   NCBI Sequence Viewer  
  ADP92060 (Get FASTA)   NCBI Sequence Viewer  
  ADP92061 (Get FASTA)   NCBI Sequence Viewer  
  ADP92062 (Get FASTA)   NCBI Sequence Viewer  
  ADP92063 (Get FASTA)   NCBI Sequence Viewer  
  ADP92064 (Get FASTA)   NCBI Sequence Viewer  
  ADP92065 (Get FASTA)   NCBI Sequence Viewer  
  ADP92066 (Get FASTA)   NCBI Sequence Viewer  
  ADP92067 (Get FASTA)   NCBI Sequence Viewer  
  ADP92068 (Get FASTA)   NCBI Sequence Viewer  
  ADP92069 (Get FASTA)   NCBI Sequence Viewer  
  ADP92070 (Get FASTA)   NCBI Sequence Viewer  
  ADP92071 (Get FASTA)   NCBI Sequence Viewer  
  ADP92072 (Get FASTA)   NCBI Sequence Viewer  
  ADP92073 (Get FASTA)   NCBI Sequence Viewer  
  ADP92074 (Get FASTA)   NCBI Sequence Viewer  
  ADP92075 (Get FASTA)   NCBI Sequence Viewer  
  ADP92076 (Get FASTA)   NCBI Sequence Viewer  
  ADP92077 (Get FASTA)   NCBI Sequence Viewer  
  ADP92078 (Get FASTA)   NCBI Sequence Viewer  
  ADP92079 (Get FASTA)   NCBI Sequence Viewer  
  ADP92080 (Get FASTA)   NCBI Sequence Viewer  
  ADP92081 (Get FASTA)   NCBI Sequence Viewer  
  ADP92082 (Get FASTA)   NCBI Sequence Viewer  
  ADP92083 (Get FASTA)   NCBI Sequence Viewer  
  ADP92084 (Get FASTA)   NCBI Sequence Viewer  
  ADP92085 (Get FASTA)   NCBI Sequence Viewer  
  ADP92086 (Get FASTA)   NCBI Sequence Viewer  
  ADP92087 (Get FASTA)   NCBI Sequence Viewer  
  ADP92088 (Get FASTA)   NCBI Sequence Viewer  
  ADP92089 (Get FASTA)   NCBI Sequence Viewer  
  ADP92090 (Get FASTA)   NCBI Sequence Viewer  
  ADP92091 (Get FASTA)   NCBI Sequence Viewer  
  ADP92092 (Get FASTA)   NCBI Sequence Viewer  
  ADP92093 (Get FASTA)   NCBI Sequence Viewer  
  BAG35866 (Get FASTA)   NCBI Sequence Viewer  
  BAH11754 (Get FASTA)   NCBI Sequence Viewer  
  EAL24018 (Get FASTA)   NCBI Sequence Viewer  
  EAW83978 (Get FASTA)   NCBI Sequence Viewer  
  EAW83979 (Get FASTA)   NCBI Sequence Viewer  
  EAW83980 (Get FASTA)   NCBI Sequence Viewer  
  EAW83981 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265304
  ENSP00000265304.6
  ENSP00000418068
  ENSP00000418068.1
  ENSP00000418181.1
  ENSP00000419388.1
  ENSP00000419541
  ENSP00000419541.1
  ENSP00000419579.1
  ENSP00000419665
  ENSP00000419665.1
  ENSP00000420485.1
  ENSP00000458403.1
  ENSP00000458815.2
  ENSP00000459208.2
  ENSP00000459367.2
  ENSP00000460028.2
  ENSP00000460161.2
  ENSP00000461315.1
  ENSP00000461884.2
  ENSP00000480488
  ENSP00000480488.1
GenBank Protein Q04837 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003134   ⟸   NM_003143
- Peptide Label: precursor
- UniProtKB: Q04837 (UniProtKB/Swiss-Prot),   A4D1U3 (UniProtKB/TrEMBL),   Q567R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243440   ⟸   NM_001256511
- Peptide Label: precursor
- UniProtKB: Q04837 (UniProtKB/Swiss-Prot),   A4D1U3 (UniProtKB/TrEMBL),   Q567R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243441   ⟸   NM_001256512
- Peptide Label: precursor
- UniProtKB: Q04837 (UniProtKB/Swiss-Prot),   A4D1U3 (UniProtKB/TrEMBL),   Q567R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243442   ⟸   NM_001256513
- Peptide Label: precursor
- UniProtKB: Q04837 (UniProtKB/Swiss-Prot),   A4D1U3 (UniProtKB/TrEMBL),   Q567R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243439   ⟸   NM_001256510
- Peptide Label: precursor
- UniProtKB: Q04837 (UniProtKB/Swiss-Prot),   A4D1U3 (UniProtKB/TrEMBL),   Q567R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250106   ⟸   XM_005250049
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL),   A0A0G2JLD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250105   ⟸   XM_005250048
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL),   A0A0G2JLD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250107   ⟸   XM_005250050
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL),   A0A0G2JLD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250108   ⟸   XM_005250051
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL),   A0A0G2JLD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000419579   ⟸   ENST00000463093
RefSeq Acc Id: ENSP00000420485   ⟸   ENST00000465582
RefSeq Acc Id: ENSP00000418068   ⟸   ENST00000467681
RefSeq Acc Id: ENSP00000480488   ⟸   ENST00000612337
RefSeq Acc Id: ENSP00000419665   ⟸   ENST00000481508
RefSeq Acc Id: ENSP00000419541   ⟸   ENST00000498107
RefSeq Acc Id: ENSP00000419388   ⟸   ENST00000484178
RefSeq Acc Id: ENSP00000418181   ⟸   ENST00000473783
RefSeq Acc Id: ENSP00000265304   ⟸   ENST00000265304
RefSeq Acc Id: XP_054214870   ⟸   XM_054358895
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214869   ⟸   XM_054358894
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214868   ⟸   XM_054358893
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214867   ⟸   XM_054358892
- Peptide Label: isoform X1
- UniProtKB: B7Z268 (UniProtKB/TrEMBL),   B7WNJ6 (UniProtKB/TrEMBL)
Protein Domains
SSB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04837-F1-model_v2 AlphaFold Q04837 1-148 view protein structure

Promoters
RGD ID:6806439
Promoter ID:HG_KWN:59981
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:NM_003143,   NR_015392,   UC003VWM.2,   UC010LNM.1,   UC010LNN.1,   UC010LNO.1,   UC010LNP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367141,083,686 - 141,085,237 (-)MPROMDB
RGD ID:6850456
Promoter ID:EP73019
Type:multiple initiation site
Name:HS_SSBP1
Description:Single-stranded DNA binding protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 367141,084,627 - 141,084,687EPD
RGD ID:7212133
Promoter ID:EPDNEW_H11807
Type:initiation region
Name:SSBP1_1
Description:single stranded DNA binding 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
GRCh387141,738,372 - 141,738,432EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11317 AgrOrtholog
COSMIC SSBP1 COSMIC
Ensembl Genes ENSG00000106028 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000262771 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265304 ENTREZGENE
  ENST00000265304.11 UniProtKB/Swiss-Prot
  ENST00000463093.5 UniProtKB/TrEMBL
  ENST00000465582.5 UniProtKB/Swiss-Prot
  ENST00000467681 ENTREZGENE
  ENST00000467681.5 UniProtKB/TrEMBL
  ENST00000469123 ENTREZGENE
  ENST00000473783.5 UniProtKB/TrEMBL
  ENST00000481508 ENTREZGENE
  ENST00000481508.1 UniProtKB/Swiss-Prot
  ENST00000484178.5 UniProtKB/Swiss-Prot
  ENST00000498107 ENTREZGENE
  ENST00000498107.5 UniProtKB/Swiss-Prot
  ENST00000570667.5 UniProtKB/Swiss-Prot
  ENST00000571430.5 UniProtKB/Swiss-Prot
  ENST00000571709.5 UniProtKB/TrEMBL
  ENST00000573322.5 UniProtKB/TrEMBL
  ENST00000574199.5 UniProtKB/Swiss-Prot
  ENST00000575059.5 UniProtKB/Swiss-Prot
  ENST00000576311.5 UniProtKB/TrEMBL
  ENST00000576834.2 UniProtKB/Swiss-Prot
  ENST00000612337 ENTREZGENE
  ENST00000612337.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106028 GTEx
  ENSG00000262771 GTEx
HGNC ID HGNC:11317 ENTREZGENE
Human Proteome Map SSBP1 Human Proteome Map
InterPro NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Primosome_PriB/ssb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ssDNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6742 ENTREZGENE
OMIM 600439 OMIM
PANTHER PTHR10302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SINGLE-STRANDED DNA-BINDING PROTEIN, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SSB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36141 PharmGKB
PIRSF SSB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SSB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JLD8 ENTREZGENE, UniProtKB/TrEMBL
  A4D1U3 ENTREZGENE, UniProtKB/TrEMBL
  B7WNJ6 ENTREZGENE
  B7Z268 ENTREZGENE, UniProtKB/TrEMBL
  C9J8J0_HUMAN UniProtKB/TrEMBL
  C9K0U8_HUMAN UniProtKB/TrEMBL
  E7EUY5_HUMAN UniProtKB/TrEMBL
  Q04837 ENTREZGENE
  Q567R6 ENTREZGENE, UniProtKB/TrEMBL
  Q75MV9_HUMAN UniProtKB/TrEMBL
  Q96QL6_HUMAN UniProtKB/TrEMBL
  SSBP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7WNJ6 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 SSBP1  single stranded DNA binding protein 1  SSBP1  single-stranded DNA binding protein 1, mitochondrial  Symbol and/or name change 5135510 APPROVED
2012-06-05 SSBP1  single-stranded DNA binding protein 1, mitochondrial  SSBP1  single-stranded DNA binding protein 1  Symbol and/or name change 5135510 APPROVED