TERF1 (telomeric repeat binding factor 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TERF1 (telomeric repeat binding factor 1) Homo sapiens
Analyze
Symbol: TERF1
Name: telomeric repeat binding factor 1
RGD ID: 1323104
HGNC Page HGNC:11728
Description: Enables several functions, including DNA binding activity; ankyrin repeat binding activity; and protein C-terminus binding activity. Contributes to telomerase activity. Involved in several processes, including negative regulation of establishment of RNA localization to telomere; negative regulation of nucleobase-containing compound metabolic process; and telomere maintenance. Located in chromosome, telomeric region; fibrillar center; and nuclear body. Part of shelterin complex. Colocalizes with spindle. Biomarker of breast cancer and stomach cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ41416; hTRF1-AS; NIMA-interacting protein 2; PIN2; t-TRF1; telomeric protein Pin2/TRF1; telomeric repeat binding factor (NIMA-interacting) 1; telomeric repeat binding protein 1; telomeric repeat-binding factor 1; TRBF1; TRF; TRF1; TTAGGG repeat-binding factor 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TERF1P1   TERF1P2   TERF1P3   TERF1P4   TERF1P5   TERF1P6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38873,008,864 - 73,048,123 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl873,008,856 - 73,048,123 (+)EnsemblGRCh38hg38GRCh38
GRCh37873,921,099 - 73,960,358 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36874,083,661 - 74,122,281 (+)NCBINCBI36Build 36hg18NCBI36
Build 34874,083,662 - 74,122,281NCBI
Celera869,918,262 - 69,957,163 (+)NCBICelera
Cytogenetic Map8q21.11NCBI
HuRef869,411,980 - 69,450,876 (+)NCBIHuRef
CHM1_1873,973,943 - 74,012,842 (+)NCBICHM1_1
T2T-CHM13v2.0873,437,901 - 73,477,172 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
chromosome, telomeric region  (HDA,IDA,IEA,IMP)
cytoplasm  (IEA)
cytoskeleton  (IEA)
fibrillar center  (IDA)
intracellular organelle  (IEA)
nuclear body  (IDA)
nuclear telomere cap complex  (IBA,IDA,IEA,ISS)
nucleolus  (IDA)
nucleoplasm  (TAS)
nucleus  (IDA,IEA,ISO,NAS)
shelterin complex  (IDA,IPI,TAS)
spindle  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression of TRF1, TRF2, TIN2, TERT, KU70, and BRCA1 proteins is associated with telomere shortening and may contribute to multistage carcinogenesis of gastric cancer. Hu H, etal., J Cancer Res Clin Oncol. 2010 Feb 2.
3. Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice. Martinez P, etal., Genes Dev. 2009 Sep 1;23(17):2060-75. Epub 2009 Aug 13.
4. Telomere-mediated genomic instability and the clinico-pathological parameters in breast cancer. Poonepalli A, etal., Genes Chromosomes Cancer. 2008 Dec;47(12):1098-109.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1406665   PMID:7502076   PMID:8606777   PMID:8614633   PMID:9002672   PMID:9034193   PMID:9130722   PMID:9326950   PMID:9391075   PMID:9480811   PMID:9739097   PMID:9822378  
PMID:10581025   PMID:10669743   PMID:10913111   PMID:10988299   PMID:11313893   PMID:11327863   PMID:11375976   PMID:11454873   PMID:11545737   PMID:11701125   PMID:11738049   PMID:11739745  
PMID:11744712   PMID:11751684   PMID:11802774   PMID:11813863   PMID:11854288   PMID:11943150   PMID:11971978   PMID:12007281   PMID:12080061   PMID:12135354   PMID:12477932   PMID:12530079  
PMID:12667345   PMID:12768206   PMID:12782650   PMID:12915656   PMID:14702039   PMID:14715659   PMID:14966275   PMID:15007108   PMID:15100233   PMID:15133513   PMID:15181449   PMID:15200954  
PMID:15229185   PMID:15231715   PMID:15231748   PMID:15314656   PMID:15316005   PMID:15380063   PMID:15383534   PMID:15389875   PMID:15608617   PMID:15632001   PMID:15792519   PMID:16166375  
PMID:16169070   PMID:16275645   PMID:16344560   PMID:16358369   PMID:16421973   PMID:16647572   PMID:16756990   PMID:16786598   PMID:16880378   PMID:17000763   PMID:17020976   PMID:17081983  
PMID:17389648   PMID:17561506   PMID:17589526   PMID:17629495   PMID:17681636   PMID:17694070   PMID:17765874   PMID:17848914   PMID:17962804   PMID:18160036   PMID:18178559   PMID:18202258  
PMID:18221737   PMID:18347021   PMID:18397896   PMID:18625707   PMID:18676680   PMID:18761675   PMID:19129235   PMID:19135898   PMID:19164295   PMID:19170196   PMID:19265708   PMID:19274049  
PMID:19487455   PMID:19596237   PMID:19596784   PMID:19625176   PMID:19692168   PMID:19746267   PMID:19766477   PMID:19773453   PMID:19797051   PMID:19817957   PMID:19854130   PMID:19887064  
PMID:20056641   PMID:20056655   PMID:20137830   PMID:20159592   PMID:20160025   PMID:20181953   PMID:20549820   PMID:20644899   PMID:20696165   PMID:20811636   PMID:20936779   PMID:20937264  
PMID:21044950   PMID:21048031   PMID:21119197   PMID:21209389   PMID:21314979   PMID:21423270   PMID:21852327   PMID:21873635   PMID:21988832   PMID:22039056   PMID:22045740   PMID:22046132  
PMID:22153077   PMID:22225189   PMID:22331467   PMID:22336916   PMID:22379092   PMID:22412388   PMID:22641345   PMID:22645305   PMID:22790221   PMID:22878603   PMID:23268632   PMID:23307557  
PMID:23455924   PMID:23583392   PMID:23685356   PMID:23702294   PMID:23959892   PMID:24019069   PMID:24091727   PMID:24095731   PMID:24270157   PMID:24389012   PMID:24415760   PMID:24626180  
PMID:24692559   PMID:24752893   PMID:24876105   PMID:24895130   PMID:25416956   PMID:25589350   PMID:25620558   PMID:25819337   PMID:25892537   PMID:26110528   PMID:26186194   PMID:26240333  
PMID:26403970   PMID:26496610   PMID:26586433   PMID:26658719   PMID:27185864   PMID:27214791   PMID:27298259   PMID:27841304   PMID:27918544   PMID:28030839   PMID:28216227   PMID:28417530  
PMID:28514442   PMID:28643740   PMID:28808664   PMID:28944611   PMID:29083416   PMID:29136505   PMID:29358759   PMID:29428209   PMID:29581185   PMID:29656893   PMID:29987050   PMID:30268887  
PMID:30761946   PMID:30804502   PMID:31026066   PMID:31158366   PMID:31375564   PMID:31646401   PMID:31877678   PMID:32077369   PMID:32296183   PMID:32502208   PMID:32576588   PMID:32620872  
PMID:32994395   PMID:33174061   PMID:33306668   PMID:33347580   PMID:33854235   PMID:33941849   PMID:33961781   PMID:34112789   PMID:34187905   PMID:34403696   PMID:34486082   PMID:35077681  
PMID:35190564  


Genomics

Comparative Map Data
TERF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38873,008,864 - 73,048,123 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl873,008,856 - 73,048,123 (+)EnsemblGRCh38hg38GRCh38
GRCh37873,921,099 - 73,960,358 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36874,083,661 - 74,122,281 (+)NCBINCBI36Build 36hg18NCBI36
Build 34874,083,662 - 74,122,281NCBI
Celera869,918,262 - 69,957,163 (+)NCBICelera
Cytogenetic Map8q21.11NCBI
HuRef869,411,980 - 69,450,876 (+)NCBIHuRef
CHM1_1873,973,943 - 74,012,842 (+)NCBICHM1_1
T2T-CHM13v2.0873,437,901 - 73,477,172 (+)NCBIT2T-CHM13v2.0
Terf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39115,875,634 - 15,914,276 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl115,875,870 - 15,914,276 (+)EnsemblGRCm39 Ensembl
GRCm38115,805,546 - 15,844,052 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl115,805,646 - 15,844,052 (+)EnsemblGRCm38mm10GRCm38
MGSCv37115,795,739 - 15,833,510 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36115,790,872 - 15,828,643 (+)NCBIMGSCv36mm8
Celera115,750,793 - 15,788,563 (+)NCBICelera
Cytogenetic Map1A3NCBI
cM Map14.88NCBI
Terf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.253,443,103 - 3,472,377 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl53,443,106 - 3,472,340 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx55,560,595 - 5,589,792 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.057,199,479 - 7,228,676 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.056,896,804 - 6,926,212 (-)NCBIRnor_WKY
Rnor_6.052,853,455 - 2,882,731 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl52,853,459 - 2,882,668 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.052,843,150 - 2,872,418 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.452,556,918 - 2,586,086 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.152,556,917 - 2,586,086 (-)NCBI
Celera53,039,138 - 3,068,345 (-)NCBICelera
Cytogenetic Map5q11NCBI
Terf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554447,103,552 - 7,150,323 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554447,103,282 - 7,149,450 (-)NCBIChiLan1.0ChiLan1.0
TERF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1871,192,716 - 71,231,648 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0869,545,115 - 69,583,997 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
TERF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12921,664,378 - 21,701,491 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2921,664,186 - 21,700,495 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2921,929,296 - 21,966,341 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02921,773,860 - 21,811,415 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2921,773,883 - 21,811,414 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12921,832,463 - 21,869,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02921,868,610 - 21,906,117 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02922,149,876 - 22,187,001 (+)NCBIUU_Cfam_GSD_1.0
Terf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530357,612,694 - 57,639,199 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366481,809,395 - 1,835,890 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TERF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl462,797,000 - 62,831,454 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1462,797,244 - 62,831,459 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2468,341,702 - 68,375,863 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TERF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1868,608,830 - 68,647,220 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl868,608,844 - 68,648,171 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603972,734,995 - 72,774,562 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Terf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474418,121,687 - 18,156,989 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474418,120,677 - 18,156,920 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
WI-15399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,958,507 - 73,958,656UniSTSGRCh37
Build 36874,121,061 - 74,121,210RGDNCBI36
Celera869,955,683 - 69,955,832RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,449,396 - 69,449,545UniSTS
GeneMap99-GB4 RH Map8375.77UniSTS
Whitehead-RH Map8461.9UniSTS
NCBI RH Map8844.5UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1409
Count of miRNA genes:823
Interacting mature miRNAs:950
Transcripts:ENST00000276602, ENST00000276603, ENST00000517390, ENST00000518695, ENST00000518874, ENST00000518961, ENST00000520783, ENST00000522018
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1788 1498 1189 120 518 49 3000 906 2527 203 1308 1305 83 1 1079 1740 3 2
Low 651 1487 537 504 1429 416 1357 1289 1207 215 152 308 91 125 1048 3
Below cutoff 6 4 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI218408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY576778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF056993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX788828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA658766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU088287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U74382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X93511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276602   ⟹   ENSP00000276602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,048,122 (+)Ensembl
RefSeq Acc Id: ENST00000276603   ⟹   ENSP00000276603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,048,123 (+)Ensembl
RefSeq Acc Id: ENST00000517390   ⟹   ENSP00000430121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,860 - 73,047,598 (+)Ensembl
RefSeq Acc Id: ENST00000518695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,908 - 73,012,505 (+)Ensembl
RefSeq Acc Id: ENST00000518874   ⟹   ENSP00000428838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,877 - 73,027,052 (+)Ensembl
RefSeq Acc Id: ENST00000518961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,029,953 - 73,046,975 (+)Ensembl
RefSeq Acc Id: ENST00000520783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,031,613 - 73,038,804 (+)Ensembl
RefSeq Acc Id: ENST00000522018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,028,477 (+)Ensembl
RefSeq Acc Id: ENST00000676483   ⟹   ENSP00000504467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,048,122 (+)Ensembl
RefSeq Acc Id: ENST00000677031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,042,778 (+)Ensembl
RefSeq Acc Id: ENST00000678358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,856 - 73,025,699 (+)Ensembl
RefSeq Acc Id: ENST00000678518   ⟹   ENSP00000504470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,048,122 (+)Ensembl
RefSeq Acc Id: ENST00000678860   ⟹   ENSP00000503453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,047,479 (+)Ensembl
RefSeq Acc Id: ENST00000678912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,028,603 - 73,047,653 (+)Ensembl
RefSeq Acc Id: ENST00000678997   ⟹   ENSP00000503607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,864 - 73,047,711 (+)Ensembl
RefSeq Acc Id: ENST00000679115   ⟹   ENSP00000504760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl873,008,860 - 73,047,479 (+)Ensembl
RefSeq Acc Id: NM_003218   ⟹   NP_003209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
GRCh37873,921,097 - 73,959,987 (+)ENTREZGENE
Build 36874,083,661 - 74,122,281 (+)NCBI Archive
HuRef869,411,980 - 69,450,876 (+)ENTREZGENE
CHM1_1873,973,943 - 74,012,842 (+)NCBI
T2T-CHM13v2.0873,437,901 - 73,477,172 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017489   ⟹   NP_059523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
GRCh37873,921,097 - 73,959,987 (+)ENTREZGENE
Build 36874,083,661 - 74,122,281 (+)NCBI Archive
HuRef869,411,980 - 69,450,876 (+)ENTREZGENE
CHM1_1873,973,943 - 74,012,842 (+)NCBI
T2T-CHM13v2.0873,437,901 - 73,477,172 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251291   ⟹   XP_005251348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
GRCh37873,921,097 - 73,959,987 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251292   ⟹   XP_005251349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
GRCh37873,921,097 - 73,959,987 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517582   ⟹   XP_011515884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447246   ⟹   XP_024303014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422165   ⟹   XP_047278121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,048,123 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_059523   ⟸   NM_017489
- Peptide Label: isoform 1
- UniProtKB: Q93029 (UniProtKB/Swiss-Prot),   P54274 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003209   ⟸   NM_003218
- Peptide Label: isoform 2
- UniProtKB: P54274 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251348   ⟸   XM_005251291
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005251349   ⟸   XM_005251292
- Peptide Label: isoform X2
- UniProtKB: A0A7I2YQE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515884   ⟸   XM_011517582
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303014   ⟸   XM_024447246
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000430121   ⟸   ENST00000517390
RefSeq Acc Id: ENSP00000428838   ⟸   ENST00000518874
RefSeq Acc Id: ENSP00000276603   ⟸   ENST00000276603
RefSeq Acc Id: ENSP00000276602   ⟸   ENST00000276602
RefSeq Acc Id: ENSP00000504467   ⟸   ENST00000676483
RefSeq Acc Id: ENSP00000503453   ⟸   ENST00000678860
RefSeq Acc Id: ENSP00000504470   ⟸   ENST00000678518
RefSeq Acc Id: ENSP00000503607   ⟸   ENST00000678997
RefSeq Acc Id: ENSP00000504760   ⟸   ENST00000679115
RefSeq Acc Id: XP_047278121   ⟸   XM_047422165
- Peptide Label: isoform X4
Protein Domains
HTH myb-type   Myb-like   TRF

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54274-F1-model_v2 AlphaFold P54274 1-439 view protein structure

Promoters
RGD ID:7213519
Promoter ID:EPDNEW_H12505
Type:initiation region
Name:TERF1_1
Description:telomeric repeat binding factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,008,864 - 73,008,924EPDNEW
RGD ID:6806665
Promoter ID:HG_KWN:61509
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379182,   NM_003218,   NM_017489,   UC003XZC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36874,083,421 - 74,083,921 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 copy number gain See cases [RCV000053655] Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_017489.3(TERF1):c.285C>T (p.Ser95=) single nucleotide variant not provided [RCV001678803] Chr8:73009171 [GRCh38]
Chr8:73921406 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.1144-163C>T single nucleotide variant not provided [RCV001681044] Chr8:73045798 [GRCh38]
Chr8:73958033 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.1258T>C (p.Leu420=) single nucleotide variant not provided [RCV000965775] Chr8:73046075 [GRCh38]
Chr8:73958310 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.1040-124G>A single nucleotide variant not provided [RCV001720355] Chr8:73038992 [GRCh38]
Chr8:73951227 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.1040-77T>G single nucleotide variant not provided [RCV001720360] Chr8:73039039 [GRCh38]
Chr8:73951274 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.775-214T>G single nucleotide variant not provided [RCV001720366] Chr8:73026726 [GRCh38]
Chr8:73938961 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.319+98_319+99insTCGGGAGAGAGG insertion not provided [RCV001669705] Chr8:73009299..73009300 [GRCh38]
Chr8:73921534..73921535 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.1188G>A (p.Arg396=) single nucleotide variant not provided [RCV000965774] Chr8:73046005 [GRCh38]
Chr8:73958240 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.415+11T>G single nucleotide variant not provided [RCV001720359] Chr8:73014001 [GRCh38]
Chr8:73926236 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.775-40A>G single nucleotide variant not provided [RCV001720364] Chr8:73026900 [GRCh38]
Chr8:73939135 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.947+192G>C single nucleotide variant not provided [RCV001675376] Chr8:73030587 [GRCh38]
Chr8:73942822 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.1144-46T>C single nucleotide variant not provided [RCV001671366] Chr8:73045915 [GRCh38]
Chr8:73958150 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.537+199T>C single nucleotide variant not provided [RCV001645083] Chr8:73021004 [GRCh38]
Chr8:73933239 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.887+69G>A single nucleotide variant not provided [RCV001645501] Chr8:73027121 [GRCh38]
Chr8:73939356 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.947+82C>T single nucleotide variant not provided [RCV001685593] Chr8:73030477 [GRCh38]
Chr8:73942712 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.888-214A>C single nucleotide variant not provided [RCV001618900] Chr8:73030122 [GRCh38]
Chr8:73942357 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.887+71C>T single nucleotide variant not provided [RCV001527939] Chr8:73027123 [GRCh38]
Chr8:73939358 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.775-298T>A single nucleotide variant not provided [RCV001687502] Chr8:73026642 [GRCh38]
Chr8:73938877 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.*91T>C single nucleotide variant not provided [RCV001650091] Chr8:73046228 [GRCh38]
Chr8:73958463 [GRCh37]
Chr8:8q21.11
benign
NM_017489.3(TERF1):c.415+218C>T single nucleotide variant not provided [RCV001652719] Chr8:73014208 [GRCh38]
Chr8:73926443 [GRCh37]
Chr8:8q21.11
benign
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11728 AgrOrtholog
COSMIC TERF1 COSMIC
Ensembl Genes ENSG00000147601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276602 ENTREZGENE
  ENSP00000276602.6 UniProtKB/Swiss-Prot
  ENSP00000276603 ENTREZGENE
  ENSP00000276603.5 UniProtKB/Swiss-Prot
  ENSP00000428838.2 UniProtKB/TrEMBL
  ENSP00000430121.2 UniProtKB/TrEMBL
  ENSP00000503453 ENTREZGENE
  ENSP00000503453.1 UniProtKB/TrEMBL
  ENSP00000503607.1 UniProtKB/TrEMBL
  ENSP00000504467.1 UniProtKB/TrEMBL
  ENSP00000504470.1 UniProtKB/TrEMBL
  ENSP00000504760.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276602 ENTREZGENE
  ENST00000276602.10 UniProtKB/Swiss-Prot
  ENST00000276603 ENTREZGENE
  ENST00000276603.10 UniProtKB/Swiss-Prot
  ENST00000517390.2 UniProtKB/TrEMBL
  ENST00000518874.6 UniProtKB/TrEMBL
  ENST00000676483.1 UniProtKB/TrEMBL
  ENST00000678518.1 UniProtKB/TrEMBL
  ENST00000678860 ENTREZGENE
  ENST00000678860.1 UniProtKB/TrEMBL
  ENST00000678997.1 UniProtKB/TrEMBL
  ENST00000679115.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147601 GTEx
HGNC ID HGNC:11728 ENTREZGENE
Human Proteome Map TERF1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myb_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT/Myb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Telomere_rpt-bd_fac_dimer_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Telomere_rpt-bd_fac_dimer_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TERF1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7013 UniProtKB/Swiss-Prot
NCBI Gene 7013 ENTREZGENE
OMIM 600951 OMIM
Pfam Myb_DNA-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36445 PharmGKB, RGD
PIRSF Telomere_bd-1_Pin2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HTH_MYB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYB_LIKE UniProtKB/TrEMBL
SMART SANT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7X1_HUMAN UniProtKB/TrEMBL
  A0A024R7X2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3N9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5E0_HUMAN UniProtKB/TrEMBL
  A0A7I2V5I6_HUMAN UniProtKB/TrEMBL
  A0A7I2V5T5_HUMAN UniProtKB/TrEMBL
  A0A7I2YQE7 ENTREZGENE, UniProtKB/TrEMBL
  E5RFJ5_HUMAN UniProtKB/TrEMBL
  E7EWM7_HUMAN UniProtKB/TrEMBL
  P54274 ENTREZGENE
  Q93029 ENTREZGENE
  TERF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A7XP29 UniProtKB/Swiss-Prot
  Q15553 UniProtKB/Swiss-Prot
  Q8NHT6 UniProtKB/Swiss-Prot
  Q93029 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 TERF1  telomeric repeat binding factor 1  TERF1  telomeric repeat binding factor (NIMA-interacting) 1  Symbol and/or name change 5135510 APPROVED