TBXT (T-box transcription factor T) - Rat Genome Database

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Gene: TBXT (T-box transcription factor T) Homo sapiens
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Symbol: TBXT
Name: T-box transcription factor T
RGD ID: 1320869
HGNC Page HGNC:11515
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in cardiac muscle cell myoblast differentiation; heart morphogenesis; and positive regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. Implicated in neural tube defect.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: brachyury protein; MGC104817; SAVA; T; T brachyury homolog; T brachyury transcription factor; T brachyury-like; T, brachyury homolog; TFT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC093300.1   AL157899.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386166,157,656 - 166,168,655 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6166,157,656 - 166,168,700 (-)EnsemblGRCh38hg38GRCh38
GRCh376166,571,144 - 166,582,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366166,491,076 - 166,502,121 (-)NCBINCBI36Build 36hg18NCBI36
Build 346166,541,496 - 166,552,542NCBI
Celera6167,310,712 - 167,321,757 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6164,037,863 - 164,048,876 (-)NCBIHuRef
CHM1_16166,835,290 - 166,846,303 (-)NCBICHM1_1
T2T-CHM13v2.06167,527,458 - 167,538,457 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (IBA,IDA,IEA,ISA)
cytoplasm  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1516477   PMID:8733136   PMID:8963900   PMID:10204846   PMID:10332959   PMID:10768863   PMID:10817656   PMID:11897834   PMID:12000749   PMID:12116228   PMID:12477932   PMID:14574404  
PMID:15449172   PMID:17273972   PMID:18301055   PMID:18466071   PMID:18593560   PMID:18820665   PMID:19274049   PMID:19801981   PMID:20602751   PMID:20670140   PMID:20855213   PMID:21102418  
PMID:21171078   PMID:21220197   PMID:21365650   PMID:21397407   PMID:21478681   PMID:21632880   PMID:21816365   PMID:21873635   PMID:22007675   PMID:22164283   PMID:22446946   PMID:22538805  
PMID:22548442   PMID:22589738   PMID:22611028   PMID:22833560   PMID:22847733   PMID:23064415   PMID:23076115   PMID:23218904   PMID:23456319   PMID:23653219   PMID:23783250   PMID:23788039  
PMID:23913553   PMID:23965741   PMID:24253444   PMID:24445144   PMID:24504414   PMID:24554551   PMID:24591762   PMID:24815864   PMID:24990759   PMID:25009296   PMID:25433496   PMID:25499255  
PMID:25683840   PMID:25744730   PMID:25995035   PMID:26015544   PMID:26099010   PMID:26435504   PMID:26781859   PMID:27049720   PMID:27580659   PMID:27621036   PMID:27663388   PMID:27893433  
PMID:28094431   PMID:28473536   PMID:28621227   PMID:28753115   PMID:29026114   PMID:29438482   PMID:29749711   PMID:30218622   PMID:30453543   PMID:30554961   PMID:32672867   PMID:32785847  
PMID:32855205   PMID:33521702   PMID:33734319   PMID:34339487   PMID:34392582   PMID:34837714   PMID:35140242   PMID:38418917  


Genomics

Comparative Map Data
TBXT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386166,157,656 - 166,168,655 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6166,157,656 - 166,168,700 (-)EnsemblGRCh38hg38GRCh38
GRCh376166,571,144 - 166,582,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366166,491,076 - 166,502,121 (-)NCBINCBI36Build 36hg18NCBI36
Build 346166,541,496 - 166,552,542NCBI
Celera6167,310,712 - 167,321,757 (-)NCBICelera
Cytogenetic Map6q27NCBI
HuRef6164,037,863 - 164,048,876 (-)NCBIHuRef
CHM1_16166,835,290 - 166,846,303 (-)NCBICHM1_1
T2T-CHM13v2.06167,527,458 - 167,538,457 (-)NCBIT2T-CHM13v2.0
T
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39178,653,255 - 8,661,328 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl178,653,255 - 8,661,328 (+)EnsemblGRCm39 Ensembl
GRCm38178,434,423 - 8,442,496 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl178,434,423 - 8,442,496 (+)EnsemblGRCm38mm10GRCm38
MGSCv37178,627,288 - 8,635,361 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36178,272,597 - 8,280,670 (+)NCBIMGSCv36mm8
Celera178,480,245 - 8,488,318 (+)NCBICelera
Cytogenetic Map17A1NCBI
cM Map174.92NCBI
Tbxt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8154,845,674 - 54,859,340 (-)NCBIGRCr8
mRatBN7.2152,298,104 - 52,309,813 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl152,298,099 - 52,305,864 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx152,999,608 - 53,007,373 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0158,991,427 - 58,999,192 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0153,075,196 - 53,082,961 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0152,887,067 - 52,900,691 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl152,887,067 - 52,894,832 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0154,139,554 - 54,147,385 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4146,937,223 - 46,944,988 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1146,940,188 - 46,947,933 (-)NCBI
Celera148,061,384 - 48,069,149 (-)NCBICelera
Cytogenetic Map1q12NCBI
Tbxt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543915,676,095 - 15,683,554 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543915,675,680 - 15,683,542 (+)NCBIChiLan1.0ChiLan1.0
TBXT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25186,353,564 - 186,363,413 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16184,249,368 - 184,259,217 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06164,112,117 - 164,122,253 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16169,095,723 - 169,106,595 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6169,095,723 - 169,106,595 (-)Ensemblpanpan1.1panPan2
TBXT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,183,495 - 54,192,331 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl154,183,153 - 54,192,352 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha154,970,966 - 54,979,790 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0154,360,266 - 54,369,833 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl154,360,928 - 54,369,833 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1154,257,349 - 54,266,189 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0154,107,519 - 54,116,264 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0154,733,858 - 54,742,687 (-)NCBIUU_Cfam_GSD_1.0
Tbxt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946148,774,775 - 148,782,886 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648916,027,359 - 16,035,041 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648916,027,359 - 16,035,041 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBXT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl12,717,165 - 2,725,601 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.112,717,165 - 2,725,561 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213,857,228 - 3,861,219 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBXT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11393,854,086 - 93,864,910 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1393,855,534 - 93,864,507 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604065,656,160 - 65,666,958 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbxt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478513,058,444 - 13,066,719 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478513,058,520 - 13,066,607 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBXT
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001366285.2(TBXT):c.1102G>T (p.Val368Leu) single nucleotide variant not provided [RCV000520733] Chr6:166158524 [GRCh38]
Chr6:166572012 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1037+79C>T single nucleotide variant Neural tube defects, susceptibility to [RCV000008660] Chr6:166160758 [GRCh38]
Chr6:166574246 [GRCh37]
Chr6:6q27		 risk factor
NM_001366285.2(TBXT):c.512A>G (p.His171Arg) single nucleotide variant Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome [RCV000114433] Chr6:166165800 [GRCh38]
Chr6:166579288 [GRCh37]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27		 pathogenic
NM_003181.3(T):c.963C>T (p.Ser321=) single nucleotide variant Malignant melanoma [RCV000067211] Chr6:166160908 [GRCh38]
Chr6:166574396 [GRCh37]
Chr6:166494386 [NCBI36]
Chr6:6q27		 not provided
NM_001366285.2(TBXT):c.1016C>T (p.Ala339Val) single nucleotide variant TBXT-related disorder [RCV003915431]|not provided [RCV000513988] Chr6:166160858 [GRCh38]
Chr6:166574346 [GRCh37]
Chr6:6q27		 benign|likely benign
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:165631374-166405780)x3 copy number gain See cases [RCV000140297] Chr6:165631374..166405780 [GRCh38]
Chr6:166044862..166819268 [GRCh37]
Chr6:165964852..166739258 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:165631374-166361022)x3 copy number gain See cases [RCV000140298] Chr6:165631374..166361022 [GRCh38]
Chr6:166044862..166774510 [GRCh37]
Chr6:165964852..166694500 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
NM_001366285.2(TBXT):c.1190C>T (p.Ser397Leu) single nucleotide variant not specified [RCV000203203] Chr6:166158436 [GRCh38]
Chr6:166571924 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163731741-167090237)x1 copy number loss See cases [RCV000449040] Chr6:163731741..167090237 [GRCh37]
Chr6:6q26-27		 pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27		 likely pathogenic
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:166331006-166984713)x1 copy number loss See cases [RCV000449260] Chr6:166331006..166984713 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:165622608-166897295)x3 copy number gain See cases [RCV000445739] Chr6:165622608..166897295 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q27(chr6:166571083-167265466)x1 copy number loss See cases [RCV000447812] Chr6:166571083..167265466 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter) single nucleotide variant not provided [RCV000578512] Chr6:166165741 [GRCh38]
Chr6:166579229 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1166A>G (p.His389Arg) single nucleotide variant not specified [RCV004300208] Chr6:166158460 [GRCh38]
Chr6:166571948 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27		 pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27		 pathogenic
NM_001366285.2(TBXT):c.800G>A (p.Gly267Asp) single nucleotide variant not specified [RCV004315155] Chr6:166162554 [GRCh38]
Chr6:166576042 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.908-8C>T single nucleotide variant not provided [RCV000946978] Chr6:166160974 [GRCh38]
Chr6:166574462 [GRCh37]
Chr6:6q27		 benign
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27		 uncertain significance
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_001366285.2(TBXT):c.1179G>A (p.Ala393=) single nucleotide variant not provided [RCV001645483] Chr6:166158447 [GRCh38]
Chr6:166571935 [GRCh37]
Chr6:6q27		 benign
NM_001366285.2(TBXT):c.676C>T (p.His226Tyr) single nucleotide variant Neural tube defect [RCV001682621] Chr6:166164659 [GRCh38]
Chr6:166578147 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1102G>A (p.Val368Met) single nucleotide variant not provided [RCV000956441] Chr6:166158524 [GRCh38]
Chr6:166572012 [GRCh37]
Chr6:6q27		 benign
NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp) single nucleotide variant Microcephaly-thin corpus callosum-intellectual disability syndrome [RCV001815598]|not provided [RCV001641636] Chr6:166165782 [GRCh38]
Chr6:166579270 [GRCh37]
Chr6:6q27		 benign
NM_001366285.2(TBXT):c.816dup (p.Ser273fs) duplication not provided [RCV001532563] Chr6:166162537..166162538 [GRCh38]
Chr6:166576025..166576026 [GRCh37]
Chr6:6q27		 likely pathogenic
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27		 likely pathogenic
NM_001366285.2(TBXT):c.466G>T (p.Gly156Cys) single nucleotide variant Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome [RCV001332237] Chr6:166166597 [GRCh38]
Chr6:166580085 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.363C>T (p.Ser121=) single nucleotide variant TBXT-related disorder [RCV003976146]|not provided [RCV001754131] Chr6:166166700 [GRCh38]
Chr6:166580188 [GRCh37]
Chr6:6q27		 benign
NM_001366285.2(TBXT):c.640G>T (p.Ala214Ser) single nucleotide variant not provided [RCV001814692] Chr6:166164828 [GRCh38]
Chr6:166578316 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162212864-170919482) copy number gain not specified [RCV002053652] Chr6:162212864..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:162381975-170919482) copy number loss not specified [RCV002053653] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q27(chr6:165622608-166897295) copy number gain not specified [RCV002053656] Chr6:165622608..166897295 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q27(chr6:166414977-166705924) copy number gain not specified [RCV002053657] Chr6:166414977..166705924 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:161047873-170919482) copy number loss not specified [RCV002053651] Chr6:161047873..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163290087-170919482) copy number loss not specified [RCV002053655] Chr6:163290087..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1 copy number loss not provided [RCV002293168] Chr6:163836226..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1 copy number loss not provided [RCV002472604] Chr6:163181847..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_001366285.2(TBXT):c.1214C>A (p.Ala405Glu) single nucleotide variant not specified [RCV004240331] Chr6:166158412 [GRCh38]
Chr6:166571900 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.419C>T (p.Pro140Leu) single nucleotide variant not specified [RCV004139214] Chr6:166166644 [GRCh38]
Chr6:166580132 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.66C>A (p.Ser22Arg) single nucleotide variant not specified [RCV004092592] Chr6:166167526 [GRCh38]
Chr6:166581014 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.698C>G (p.Pro233Arg) single nucleotide variant not specified [RCV004228871] Chr6:166164637 [GRCh38]
Chr6:166578125 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.149A>C (p.Glu50Ala) single nucleotide variant not specified [RCV004144061] Chr6:166167443 [GRCh38]
Chr6:166580931 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.457A>C (p.Asn153His) single nucleotide variant not specified [RCV004164785] Chr6:166166606 [GRCh38]
Chr6:166580094 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.851G>A (p.Arg284Lys) single nucleotide variant not specified [RCV004152336] Chr6:166162503 [GRCh38]
Chr6:166575991 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1003G>A (p.Val335Met) single nucleotide variant not specified [RCV004207692] Chr6:166160871 [GRCh38]
Chr6:166574359 [GRCh37]
Chr6:6q27		 likely benign
NM_001366285.2(TBXT):c.811C>T (p.Leu271Phe) single nucleotide variant not specified [RCV004122391] Chr6:166162543 [GRCh38]
Chr6:166576031 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1201C>G (p.Leu401Val) single nucleotide variant not specified [RCV004140769] Chr6:166158425 [GRCh38]
Chr6:166571913 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.860G>A (p.Arg287Gln) single nucleotide variant not specified [RCV004127829] Chr6:166162494 [GRCh38]
Chr6:166575982 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.859C>T (p.Arg287Trp) single nucleotide variant not specified [RCV004196302] Chr6:166162495 [GRCh38]
Chr6:166575983 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.202G>C (p.Gly68Arg) single nucleotide variant not specified [RCV004115870] Chr6:166167390 [GRCh38]
Chr6:166580878 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.319G>C (p.Gly107Arg) single nucleotide variant not specified [RCV004318375] Chr6:166166744 [GRCh38]
Chr6:166580232 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1219G>A (p.Ala407Thr) single nucleotide variant not specified [RCV004260928] Chr6:166158407 [GRCh38]
Chr6:166571895 [GRCh37]
Chr6:6q27		 likely benign
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1 copy number loss not provided [RCV003334287] Chr6:160952761..170892276 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_001366285.2(TBXT):c.76A>C (p.Asn26His) single nucleotide variant not specified [RCV004357457] Chr6:166167516 [GRCh38]
Chr6:166581004 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.290C>A (p.Ala97Glu) single nucleotide variant not specified [RCV004342767] Chr6:166166773 [GRCh38]
Chr6:166580261 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.537G>C (p.Gln179His) single nucleotide variant not specified [RCV004354092] Chr6:166165775 [GRCh38]
Chr6:166579263 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.118C>G (p.Arg40Gly) single nucleotide variant Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome [RCV003493190] Chr6:166167474 [GRCh38]
Chr6:166580962 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1 copy number loss not specified [RCV003986639] Chr6:162079329..170919482 [GRCh37]
Chr6:6q26-27		 pathogenic
NM_001366285.2(TBXT):c.1068C>T (p.Asn356=) single nucleotide variant TBXT-related disorder [RCV003907104] Chr6:166158558 [GRCh38]
Chr6:166572046 [GRCh37]
Chr6:6q27		 likely benign
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1 copy number loss not provided [RCV003885515] Chr6:162124972..170893669 [GRCh37]
Chr6:6q26-27		 pathogenic
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 copy number loss See cases [RCV004442824] Chr6:152853218..170914297 [GRCh37]
Chr6:6q25.2-27		 pathogenic
NM_001366285.2(TBXT):c.1213GCGGCC[3] (p.Ala408_Thr409insAlaAla) microsatellite not provided [RCV003887045] Chr6:166158401..166158402 [GRCh38]
Chr6:166571889..166571890 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1110C>T (p.Asn370=) single nucleotide variant TBXT-related disorder [RCV003921997] Chr6:166158516 [GRCh38]
Chr6:166572004 [GRCh37]
Chr6:6q27		 likely benign
NM_001366285.2(TBXT):c.668G>A (p.Arg223Lys) single nucleotide variant TBXT-related disorder [RCV003951361] Chr6:166164800 [GRCh38]
Chr6:166578288 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1017C>A (p.Ala339=) single nucleotide variant TBXT-related disorder [RCV003981430] Chr6:166160857 [GRCh38]
Chr6:166574345 [GRCh37]
Chr6:6q27		 likely benign
NM_001366285.2(TBXT):c.606+8G>A single nucleotide variant TBXT-related disorder [RCV003951520] Chr6:166165698 [GRCh38]
Chr6:166579186 [GRCh37]
Chr6:6q27		 likely benign
NM_001366285.2(TBXT):c.1109A>G (p.Asn370Ser) single nucleotide variant TBXT-related disorder [RCV003967376] Chr6:166158517 [GRCh38]
Chr6:166572005 [GRCh37]
Chr6:6q27		 benign
NM_001366285.2(TBXT):c.124C>A (p.Leu42Met) single nucleotide variant not specified [RCV004466068] Chr6:166167468 [GRCh38]
Chr6:166580956 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.144G>C (p.Glu48Asp) single nucleotide variant not specified [RCV004466069] Chr6:166167448 [GRCh38]
Chr6:166580936 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.938C>T (p.Ser313Phe) single nucleotide variant not specified [RCV004466071] Chr6:166160936 [GRCh38]
Chr6:166574424 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1169C>T (p.Pro390Leu) single nucleotide variant not specified [RCV004466067] Chr6:166158457 [GRCh38]
Chr6:166571945 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1082C>T (p.Pro361Leu) single nucleotide variant not specified [RCV004466066] Chr6:166158544 [GRCh38]
Chr6:166572032 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.845C>G (p.Thr282Ser) single nucleotide variant not specified [RCV004466070] Chr6:166162509 [GRCh38]
Chr6:166575997 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.244C>G (p.Leu82Val) single nucleotide variant not specified [RCV004671022] Chr6:166166819 [GRCh38]
Chr6:166580307 [GRCh37]
Chr6:6q27		 uncertain significance
NM_001366285.2(TBXT):c.1178C>T (p.Ala393Val) single nucleotide variant not specified [RCV004671021] Chr6:166158448 [GRCh38]
Chr6:166571936 [GRCh37]
Chr6:6q27		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1028
Count of miRNA genes:523
Interacting mature miRNAs:563
Transcripts:ENST00000296946, ENST00000366871, ENST00000366876, ENST00000461348
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407028483GWAS677459_Hvisceral:subcutaneous adipose tissue ratio QTL GWAS677459 (human)0.000004visceral:subcutaneous adipose tissue ratio6166157955166157956Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
407282363GWAS931339_Hbody height QTL GWAS931339 (human)9e-100body height (VT:0001253)body height (CMO:0000106)6166165782166165783Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human

Markers in Region
T_864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,570,880 - 166,571,711UniSTSGRCh37
Build 366166,490,870 - 166,491,701RGDNCBI36
Celera6167,310,506 - 167,311,337RGD
HuRef6164,037,599 - 164,038,430UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ001699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE785653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG436736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU190437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI638829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296946   ⟹   ENSP00000296946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,157,656 - 166,168,619 (-)Ensembl
Ensembl Acc Id: ENST00000366871   ⟹   ENSP00000355836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,157,656 - 166,168,700 (-)Ensembl
Ensembl Acc Id: ENST00000366876   ⟹   ENSP00000355841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,157,656 - 166,167,851 (-)Ensembl
Ensembl Acc Id: ENST00000461348   ⟹   ENSP00000453512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6166,164,606 - 166,168,671 (-)Ensembl
RefSeq Acc Id: NM_001270484   ⟹   NP_001257413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,157,656 - 166,168,655 (-)NCBI
HuRef6164,037,863 - 164,048,876 (-)NCBI
CHM1_16166,835,290 - 166,846,303 (-)NCBI
T2T-CHM13v2.06167,527,458 - 167,538,457 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366285   ⟹   NP_001353214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,157,656 - 166,167,851 (-)NCBI
T2T-CHM13v2.06167,527,458 - 167,537,653 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366286   ⟹   NP_001353215
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,157,656 - 166,168,655 (-)NCBI
T2T-CHM13v2.06167,527,458 - 167,538,457 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003181   ⟹   NP_003172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,157,656 - 166,168,655 (-)NCBI
GRCh376166,571,144 - 166,582,157 (-)NCBI
Build 366166,491,076 - 166,502,121 (-)NCBI Archive
HuRef6164,037,863 - 164,048,876 (-)NCBI
CHM1_16166,835,290 - 166,846,303 (-)NCBI
T2T-CHM13v2.06167,527,458 - 167,538,457 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419269   ⟹   XP_047275225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,157,656 - 166,167,851 (-)NCBI
RefSeq Acc Id: XM_054356267   ⟹   XP_054212242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06167,527,458 - 167,537,712 (-)NCBI
RefSeq Acc Id: NP_003172   ⟸   NM_003181
- Peptide Label: isoform 1
- UniProtKB: E7ERD6 (UniProtKB/Swiss-Prot),   Q4KMP4 (UniProtKB/Swiss-Prot),   O15178 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257413   ⟸   NM_001270484
- Peptide Label: isoform 2
- UniProtKB: O15178 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001353215   ⟸   NM_001366286
- Peptide Label: isoform 3
- UniProtKB: J3KP65 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353214   ⟸   NM_001366285
- Peptide Label: isoform 3
- UniProtKB: J3KP65 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000296946   ⟸   ENST00000296946
Ensembl Acc Id: ENSP00000355836   ⟸   ENST00000366871
Ensembl Acc Id: ENSP00000355841   ⟸   ENST00000366876
Ensembl Acc Id: ENSP00000453512   ⟸   ENST00000461348
RefSeq Acc Id: XP_047275225   ⟸   XM_047419269
- Peptide Label: isoform X1
- UniProtKB: O15178 (UniProtKB/Swiss-Prot),   E7ERD6 (UniProtKB/Swiss-Prot),   Q4KMP4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054212242   ⟸   XM_054356267
- Peptide Label: isoform X1
Protein Domains
T-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15178-F1-model_v2 AlphaFold O15178 1-435 view protein structure

Promoters
RGD ID:7209637
Promoter ID:EPDNEW_H10564
Type:multiple initiation site
Name:T_1
Description:T brachyury transcription factor
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
GRCh386166,167,851 - 166,167,911EPDNEW
RGD ID:6804848
Promoter ID:HG_KWN:55745
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000366871,   ENST00000366876,   NM_003181,   OTTHUMT00000043038,   UC003QUT.1,   UC003QUV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366166,501,421 - 166,502,322 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11515 AgrOrtholog
COSMIC TBXT COSMIC
Ensembl Genes ENSG00000164458 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296946 ENTREZGENE
  ENST00000296946.6 UniProtKB/Swiss-Prot
  ENST00000366871 ENTREZGENE
  ENST00000366871.7 UniProtKB/Swiss-Prot
  ENST00000366876 ENTREZGENE
  ENST00000366876.7 UniProtKB/TrEMBL
  ENST00000461348.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164458 GTEx
HGNC ID HGNC:11515 ENTREZGENE
Human Proteome Map TBXT Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_Brachyury UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6862 UniProtKB/Swiss-Prot
NCBI Gene 6862 ENTREZGENE
OMIM 601397 OMIM
PANTHER PTHR11267 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-BOX TRANSCRIPTION FACTOR T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36296 PharmGKB
PRINTS BRACHYURY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E7ERD6 ENTREZGENE
  H0YM91_HUMAN UniProtKB/TrEMBL
  J3KP65 ENTREZGENE, UniProtKB/TrEMBL
  O15178 ENTREZGENE
  Q4KMP4 ENTREZGENE
  TBXT_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E7ERD6 UniProtKB/Swiss-Prot
  Q4KMP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 TBXT  T-box transcription factor T  T  T brachyury transcription factor  Symbol and/or name change 5135510 APPROVED
2015-06-30 T  T brachyury transcription factor    T, brachyury homolog (mouse)  Symbol and/or name change 5135510 APPROVED