TLE6 (TLE family member 6, subcortical maternal complex member) - Rat Genome Database

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Gene: TLE6 (TLE family member 6, subcortical maternal complex member) Homo sapiens
Analyze
Symbol: TLE6
Name: TLE family member 6, subcortical maternal complex member
RGD ID: 1343822
HGNC Page HGNC:30788
Description: Predicted to enable transcription corepressor activity. Involved in embryonic process involved in female pregnancy. Located in cytoplasm. Part of subcortical maternal complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ14009; GRG6; MGC14966; OZEMA15; PREMBL; transducin like enhancer of split 6; transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila); transducin-like enhancer protein 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,977,401 - 2,995,179 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,977,538 - 2,995,179 (+)EnsemblGRCh38hg38GRCh38
GRCh37192,977,562 - 2,995,177 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,928,562 - 2,946,176 (+)NCBINCBI36Build 36hg18NCBI36
Build 34192,928,561 - 2,946,176NCBI
Celera192,911,604 - 2,929,249 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,745,089 - 2,762,613 (+)NCBIHuRef
CHM1_1192,977,119 - 2,995,109 (+)NCBICHM1_1
T2T-CHM13v2.0192,950,897 - 2,968,675 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11486032   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16314515   PMID:16344560   PMID:18551179   PMID:21873635   PMID:21988832   PMID:24356439   PMID:25542835   PMID:26537248  
PMID:27525657   PMID:29883609   PMID:31391242   PMID:31586073   PMID:31897846   PMID:32814053   PMID:34036456   PMID:34264011  


Genomics

Comparative Map Data
TLE6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,977,401 - 2,995,179 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,977,538 - 2,995,179 (+)EnsemblGRCh38hg38GRCh38
GRCh37192,977,562 - 2,995,177 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,928,562 - 2,946,176 (+)NCBINCBI36Build 36hg18NCBI36
Build 34192,928,561 - 2,946,176NCBI
Celera192,911,604 - 2,929,249 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,745,089 - 2,762,613 (+)NCBIHuRef
CHM1_1192,977,119 - 2,995,109 (+)NCBICHM1_1
T2T-CHM13v2.0192,950,897 - 2,968,675 (+)NCBIT2T-CHM13v2.0
Tle6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391081,426,738 - 81,437,021 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1081,426,738 - 81,436,907 (-)EnsemblGRCm39 Ensembl
GRCm381081,590,904 - 81,601,185 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,590,904 - 81,601,073 (-)EnsemblGRCm38mm10GRCm38
MGSCv371081,053,650 - 81,063,645 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361080,994,034 - 81,004,029 (-)NCBIMGSCv36mm8
Celera1082,614,086 - 82,624,081 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Tle6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr878,757,846 - 8,769,405 (+)NCBIGRCr8
mRatBN7.278,107,050 - 8,118,639 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl78,107,207 - 8,118,639 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0710,964,136 - 10,988,127 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl710,962,330 - 10,988,137 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,133,166 - 11,155,220 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.479,582,621 - 9,591,827 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera76,299,927 - 6,309,683 (+)NCBICelera
Cytogenetic Map7q11NCBI
Tle6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554955,367,237 - 5,369,601 (-)NCBIChiLan1.0ChiLan1.0
TLE6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2207,382,145 - 7,390,510 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1196,606,334 - 6,624,408 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0192,003,011 - 2,020,577 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1192,953,184 - 2,978,179 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl192,953,184 - 2,978,179 (+)Ensemblpanpan1.1panPan2
TLE6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12056,159,045 - 56,169,740 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2055,956,718 - 55,967,584 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02056,891,741 - 56,902,431 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12055,946,809 - 55,957,461 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02056,430,998 - 56,441,644 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02056,629,592 - 56,640,312 (-)NCBIUU_Cfam_GSD_1.0
Tle6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118216,116,827 - 216,126,808 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365881,708,013 - 1,717,956 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TLE6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1275,537,641 - 75,550,676 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2276,058,662 - 76,063,092 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TLE6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.162,750,838 - 2,768,451 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl62,751,525 - 2,768,269 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660815,817,283 - 5,834,667 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tle6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248286,149,869 - 6,157,875 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TLE6
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001143986.2(TLE6):c.1133del (p.Ala378fs) deletion Preimplantation embryonic lethality 1 [RCV000519403] Chr19:2989674 [GRCh38]
Chr19:2989672 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 copy number loss See cases [RCV000053942] Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3 copy number gain See cases [RCV000143086] Chr19:2884401..3451078 [GRCh38]
Chr19:2884399..3451076 [GRCh37]
Chr19:2835399..3402076 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr) single nucleotide variant Preimplantation embryonic lethality 1 [RCV000207476] Chr19:2993574 [GRCh38]
Chr19:2993572 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_001143986.2(TLE6):c.838A>G (p.Met280Val) single nucleotide variant not specified [RCV004317650] Chr19:2989158 [GRCh38]
Chr19:2989156 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001143986.2(TLE6):c.788C>G (p.Ala263Gly) single nucleotide variant not specified [RCV004326939] Chr19:2989108 [GRCh38]
Chr19:2989106 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.767A>C (p.Asp256Ala) single nucleotide variant not specified [RCV004304981] Chr19:2989087 [GRCh38]
Chr19:2989085 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001143986.2(TLE6):c.1692C>T (p.His564=) single nucleotide variant not provided [RCV000960189] Chr19:2994977 [GRCh38]
Chr19:2994975 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.1287C>T (p.Val429=) single nucleotide variant not provided [RCV000963691] Chr19:2991885 [GRCh38]
Chr19:2991883 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.1537+7G>A single nucleotide variant not provided [RCV000963692] Chr19:2993589 [GRCh38]
Chr19:2993587 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.855C>T (p.His285=) single nucleotide variant not provided [RCV000947897] Chr19:2989175 [GRCh38]
Chr19:2989173 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.795C>T (p.Pro265=) single nucleotide variant not provided [RCV000983502] Chr19:2989115 [GRCh38]
Chr19:2989113 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1620T>G (p.Pro540=) single nucleotide variant not provided [RCV000915559] Chr19:2994905 [GRCh38]
Chr19:2994903 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1176C>T (p.Asn392=) single nucleotide variant not provided [RCV000966060] Chr19:2989717 [GRCh38]
Chr19:2989715 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.861G>A (p.Glu287=) single nucleotide variant not provided [RCV000909598] Chr19:2989181 [GRCh38]
Chr19:2989179 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1615-6C>T single nucleotide variant TLE6-related disorder [RCV003902964]|not provided [RCV000917191] Chr19:2994894 [GRCh38]
Chr19:2994892 [GRCh37]
Chr19:19p13.3
benign|likely benign
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.699C>T (p.Val233=) single nucleotide variant not provided [RCV000963523] Chr19:2987971 [GRCh38]
Chr19:2987969 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.1519G>A (p.Val507Ile) single nucleotide variant not provided [RCV003312426] Chr19:2993564 [GRCh38]
Chr19:2993562 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.805_806del (p.Lys269fs) deletion Preimplantation embryonic lethality 1 [RCV001250897] Chr19:2989124..2989125 [GRCh38]
Chr19:2989122..2989123 [GRCh37]
Chr19:19p13.3
likely pathogenic
NC_000019.9:g.(?_2901044)_(3121449_?)del deletion not provided [RCV003105574] Chr19:2901044..3121449 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.386C>A (p.Ser129Tyr) single nucleotide variant not specified [RCV004301775] Chr19:2987083 [GRCh38]
Chr19:2987081 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1470C>T (p.Ser490=) single nucleotide variant not provided [RCV000957822] Chr19:2993515 [GRCh38]
Chr19:2993513 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.358T>C (p.Phe120Leu) single nucleotide variant not provided [RCV000911590] Chr19:2987055 [GRCh38]
Chr19:2987053 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.806del (p.Lys269fs) deletion Preimplantation embryonic lethality 1 [RCV001332913] Chr19:2989124 [GRCh38]
Chr19:2989122 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.317C>T (p.Thr106Met) single nucleotide variant not specified [RCV004293102] Chr19:2987014 [GRCh38]
Chr19:2987012 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1612G>A (p.Glu538Lys) single nucleotide variant not specified [RCV004290363] Chr19:2994093 [GRCh38]
Chr19:2994091 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1054G>C (p.Gly352Arg) single nucleotide variant Preimplantation embryonic lethality 1 [RCV002294524] Chr19:2989595 [GRCh38]
Chr19:2989593 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.400C>T (p.Arg134Trp) single nucleotide variant not specified [RCV004288260] Chr19:2987097 [GRCh38]
Chr19:2987095 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1060T>C (p.Tyr354His) single nucleotide variant not specified [RCV004303433] Chr19:2989601 [GRCh38]
Chr19:2989599 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.875C>T (p.Thr292Met) single nucleotide variant not specified [RCV004215287] Chr19:2989195 [GRCh38]
Chr19:2989193 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.901G>A (p.Val301Met) single nucleotide variant not provided [RCV002511908] Chr19:2989221 [GRCh38]
Chr19:2989219 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.665dup (p.Ser223fs) duplication not provided [RCV003076172] Chr19:2987934..2987935 [GRCh38]
Chr19:2987932..2987933 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001143986.2(TLE6):c.1282G>A (p.Val428Met) single nucleotide variant not specified [RCV004238672] Chr19:2991880 [GRCh38]
Chr19:2991878 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1105C>A (p.Leu369Met) single nucleotide variant not specified [RCV004158981] Chr19:2989646 [GRCh38]
Chr19:2989644 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.585C>T (p.Ser195=) single nucleotide variant not provided [RCV002511907] Chr19:2987750 [GRCh38]
Chr19:2987748 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1669G>A (p.Val557Ile) single nucleotide variant not specified [RCV004085376] Chr19:2994954 [GRCh38]
Chr19:2994952 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.185A>G (p.His62Arg) single nucleotide variant not specified [RCV004087932] Chr19:2982152 [GRCh38]
Chr19:2982150 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.741-1G>C single nucleotide variant not provided [RCV002953493] Chr19:2989060 [GRCh38]
Chr19:2989058 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001143986.2(TLE6):c.410G>A (p.Gly137Glu) single nucleotide variant not specified [RCV004084583] Chr19:2987107 [GRCh38]
Chr19:2987105 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1481G>A (p.Arg494Gln) single nucleotide variant not specified [RCV004157847] Chr19:2993526 [GRCh38]
Chr19:2993524 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.895C>T (p.Arg299Trp) single nucleotide variant not specified [RCV004201992] Chr19:2989215 [GRCh38]
Chr19:2989213 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.419A>G (p.Asn140Ser) single nucleotide variant not specified [RCV004228471] Chr19:2987116 [GRCh38]
Chr19:2987114 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1100C>T (p.Pro367Leu) single nucleotide variant not specified [RCV004211961] Chr19:2989641 [GRCh38]
Chr19:2989639 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1043G>C (p.Ser348Thr) single nucleotide variant not specified [RCV004219115] Chr19:2989584 [GRCh38]
Chr19:2989582 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.833A>G (p.Glu278Gly) single nucleotide variant not specified [RCV004174797] Chr19:2989153 [GRCh38]
Chr19:2989151 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1648G>A (p.Val550Ile) single nucleotide variant not specified [RCV004217659] Chr19:2994933 [GRCh38]
Chr19:2994931 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1274A>G (p.Lys425Arg) single nucleotide variant not specified [RCV004140282] Chr19:2991872 [GRCh38]
Chr19:2991870 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1312G>T (p.Gly438Cys) single nucleotide variant not specified [RCV004173282] Chr19:2991910 [GRCh38]
Chr19:2991908 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.634C>A (p.Pro212Thr) single nucleotide variant not specified [RCV004116230] Chr19:2987906 [GRCh38]
Chr19:2987904 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1097C>T (p.Ala366Val) single nucleotide variant not specified [RCV004238579] Chr19:2989638 [GRCh38]
Chr19:2989636 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.592C>T (p.Pro198Ser) single nucleotide variant not specified [RCV004100161] Chr19:2987757 [GRCh38]
Chr19:2987755 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup duplication not provided [RCV003154903] Chr19:1206913..3771740 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1041G>C (p.Arg347Ser) single nucleotide variant not specified [RCV004304402] Chr19:2989582 [GRCh38]
Chr19:2989580 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.725G>A (p.Arg242Gln) single nucleotide variant not specified [RCV004255904] Chr19:2988113 [GRCh38]
Chr19:2988111 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.628C>T (p.Pro210Ser) single nucleotide variant not provided [RCV003222955] Chr19:2987900 [GRCh38]
Chr19:2987898 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.382T>C (p.Ser128Pro) single nucleotide variant not specified [RCV004263503] Chr19:2987079 [GRCh38]
Chr19:2987077 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.469G>A (p.Asp157Asn) single nucleotide variant not specified [RCV004270888] Chr19:2987166 [GRCh38]
Chr19:2987164 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1012C>T (p.Arg338Cys) single nucleotide variant not specified [RCV004257761] Chr19:2989553 [GRCh38]
Chr19:2989551 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.519G>C (p.Glu173Asp) single nucleotide variant not specified [RCV004279267] Chr19:2987216 [GRCh38]
Chr19:2987214 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.997C>T (p.Pro333Ser) single nucleotide variant not provided [RCV003326991] Chr19:2989538 [GRCh38]
Chr19:2989536 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1624A>G (p.Met542Val) single nucleotide variant not specified [RCV004343249] Chr19:2994909 [GRCh38]
Chr19:2994907 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1663C>T (p.Arg555Cys) single nucleotide variant not specified [RCV004336996] Chr19:2994948 [GRCh38]
Chr19:2994946 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_001143986.2(TLE6):c.841C>A (p.Arg281=) single nucleotide variant not provided [RCV003423186] Chr19:2989161 [GRCh38]
Chr19:2989159 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.349G>A (p.Glu117Lys) single nucleotide variant Preimplantation embryonic lethality 1 [RCV003493193] Chr19:2987046 [GRCh38]
Chr19:2987044 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1615-7C>A single nucleotide variant TLE6-related disorder [RCV003968987] Chr19:2994893 [GRCh38]
Chr19:2994891 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1387-3T>C single nucleotide variant TLE6-related disorder [RCV003982336] Chr19:2993429 [GRCh38]
Chr19:2993427 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.1158T>C (p.Asp386=) single nucleotide variant TLE6-related disorder [RCV003974074] Chr19:2989699 [GRCh38]
Chr19:2989697 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.1461A>G (p.Gln487=) single nucleotide variant TLE6-related disorder [RCV003923994] Chr19:2993506 [GRCh38]
Chr19:2993504 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1615-5del deletion TLE6-related disorder [RCV003943935] Chr19:2994895 [GRCh38]
Chr19:2994893 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1095G>A (p.Ala365=) single nucleotide variant TLE6-related disorder [RCV003937390] Chr19:2989636 [GRCh38]
Chr19:2989634 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1269A>G (p.Gly423=) single nucleotide variant TLE6-related disorder [RCV003943908] Chr19:2991867 [GRCh38]
Chr19:2991865 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.784G>A (p.Asp262Asn) single nucleotide variant not provided [RCV003886727] Chr19:2989104 [GRCh38]
Chr19:2989102 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1620T>C (p.Pro540=) single nucleotide variant TLE6-related disorder [RCV003984738] Chr19:2994905 [GRCh38]
Chr19:2994903 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.993+8C>T single nucleotide variant TLE6-related disorder [RCV003941829] Chr19:2989321 [GRCh38]
Chr19:2989319 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1638G>A (p.Thr546=) single nucleotide variant TLE6-related disorder [RCV003982058] Chr19:2994923 [GRCh38]
Chr19:2994921 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.1584C>T (p.Tyr528=) single nucleotide variant TLE6-related disorder [RCV003947013] Chr19:2994065 [GRCh38]
Chr19:2994063 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.18G>T (p.Gln6His) single nucleotide variant TLE6-related disorder [RCV003954549] Chr19:2978251 [GRCh38]
Chr19:2978249 [GRCh37]
Chr19:19p13.3
benign
NM_001143986.2(TLE6):c.1021C>A (p.Leu341Met) single nucleotide variant not specified [RCV004470151] Chr19:2989562 [GRCh38]
Chr19:2989560 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1531C>G (p.Pro511Ala) single nucleotide variant not specified [RCV004470152] Chr19:2993576 [GRCh38]
Chr19:2993574 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1628C>G (p.Ser543Cys) single nucleotide variant not specified [RCV004470154] Chr19:2994913 [GRCh38]
Chr19:2994911 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.211C>A (p.His71Asn) single nucleotide variant not specified [RCV004470155] Chr19:2982178 [GRCh38]
Chr19:2982176 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.353C>T (p.Ser118Leu) single nucleotide variant not specified [RCV004470156] Chr19:2987050 [GRCh38]
Chr19:2987048 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.38C>T (p.Pro13Leu) single nucleotide variant not specified [RCV004686832] Chr19:2978271 [GRCh38]
Chr19:2978269 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1577G>A (p.Gly526Asp) single nucleotide variant not specified [RCV004470153] Chr19:2994058 [GRCh38]
Chr19:2994056 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.409G>C (p.Gly137Arg) single nucleotide variant not specified [RCV004470157] Chr19:2987106 [GRCh38]
Chr19:2987104 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.770C>G (p.Ala257Gly) single nucleotide variant not specified [RCV004470159] Chr19:2989090 [GRCh38]
Chr19:2989088 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_2430909)_(4171966_?)del deletion RASopathy [RCV004581149] Chr19:2430909..4171966 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_2430909)_(3121177_?)dup duplication Progressive myoclonic epilepsy type 9 [RCV004581126] Chr19:2430909..3121177 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1278T>G (p.Ser426Arg) single nucleotide variant not specified [RCV004677081] Chr19:2991876 [GRCh38]
Chr19:2991874 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.893C>T (p.Thr298Met) single nucleotide variant not provided [RCV004575119] Chr19:2989213 [GRCh38]
Chr19:2989211 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1612G>C (p.Glu538Gln) single nucleotide variant not specified [RCV004677078] Chr19:2994093 [GRCh38]
Chr19:2994091 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1579G>A (p.Val527Ile) single nucleotide variant not specified [RCV004677079] Chr19:2994060 [GRCh38]
Chr19:2994058 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.169A>G (p.Ile57Val) single nucleotide variant not specified [RCV004677080] Chr19:2981572 [GRCh38]
Chr19:2981570 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1574T>C (p.Leu525Pro) single nucleotide variant not provided [RCV004811295] Chr19:2994055 [GRCh38]
Chr19:2994053 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1483C>G (p.His495Asp) single nucleotide variant not specified [RCV004872429] Chr19:2993528 [GRCh38]
Chr19:2993526 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1683C>T (p.Ser561=) single nucleotide variant not specified [RCV004872430] Chr19:2994968 [GRCh38]
Chr19:2994966 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.796G>T (p.Gly266Trp) single nucleotide variant not specified [RCV004872431] Chr19:2989116 [GRCh38]
Chr19:2989114 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.1234A>G (p.Ser412Gly) single nucleotide variant not specified [RCV004872432] Chr19:2989775 [GRCh38]
Chr19:2989773 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.854A>G (p.His285Arg) single nucleotide variant not specified [RCV004872433] Chr19:2989174 [GRCh38]
Chr19:2989172 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.692G>T (p.Gly231Val) single nucleotide variant not specified [RCV004872434] Chr19:2987964 [GRCh38]
Chr19:2987962 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1081G>A (p.Val361Met) single nucleotide variant not specified [RCV004872421] Chr19:2989622 [GRCh38]
Chr19:2989620 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1643G>A (p.Cys548Tyr) single nucleotide variant not specified [RCV004872425] Chr19:2994928 [GRCh38]
Chr19:2994926 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1277G>C (p.Ser426Thr) single nucleotide variant not specified [RCV004872426] Chr19:2991875 [GRCh38]
Chr19:2991873 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.429G>C (p.Glu143Asp) single nucleotide variant not specified [RCV004872427] Chr19:2987126 [GRCh38]
Chr19:2987124 [GRCh37]
Chr19:19p13.3
likely benign
NM_001143986.2(TLE6):c.38C>A (p.Pro13Gln) single nucleotide variant not specified [RCV004872428] Chr19:2978271 [GRCh38]
Chr19:2978269 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.659C>G (p.Pro220Arg) single nucleotide variant not specified [RCV004872424] Chr19:2987931 [GRCh38]
Chr19:2987929 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.173A>G (p.Tyr58Cys) single nucleotide variant not specified [RCV004872420] Chr19:2981576 [GRCh38]
Chr19:2981574 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1240G>A (p.Val414Ile) single nucleotide variant not specified [RCV004872422] Chr19:2989781 [GRCh38]
Chr19:2989779 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001143986.2(TLE6):c.1471G>A (p.Gly491Arg) single nucleotide variant not specified [RCV004872423] Chr19:2993516 [GRCh38]
Chr19:2993514 [GRCh37]
Chr19:19p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3115
Count of miRNA genes:919
Interacting mature miRNAs:1143
Transcripts:ENST00000246112, ENST00000452088, ENST00000453329, ENST00000468176, ENST00000469572, ENST00000474207, ENST00000478073, ENST00000482627, ENST00000497878, ENST00000591953
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
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2430 2786 2242 4945 1723 2339 5 623 1844 464 2266 7169 6351 50 3711 1 843 1738 1605 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX883463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX089956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA013757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB059462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY050316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000246112   ⟹   ENSP00000246112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,977,564 - 2,995,179 (+)Ensembl
Ensembl Acc Id: ENST00000452088   ⟹   ENSP00000406893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,977,580 - 2,995,179 (+)Ensembl
Ensembl Acc Id: ENST00000453329   ⟹   ENSP00000411783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,977,538 - 2,987,161 (+)Ensembl
Ensembl Acc Id: ENST00000468176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,977,564 - 2,987,974 (+)Ensembl
Ensembl Acc Id: ENST00000469572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,988,949 - 2,991,939 (+)Ensembl
Ensembl Acc Id: ENST00000474207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,984,177 - 2,988,064 (+)Ensembl
Ensembl Acc Id: ENST00000478073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,984,148 - 2,989,760 (+)Ensembl
Ensembl Acc Id: ENST00000482627   ⟹   ENSP00000467126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,977,550 - 2,980,407 (+)Ensembl
Ensembl Acc Id: ENST00000497878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,987,411 - 2,995,151 (+)Ensembl
Ensembl Acc Id: ENST00000591953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,983,906 - 2,987,187 (+)Ensembl
RefSeq Acc Id: NM_001143986   ⟹   NP_001137458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,564 - 2,995,179 (+)NCBI
GRCh37192,977,536 - 2,995,182 (+)RGD
Celera192,911,604 - 2,929,249 (+)RGD
HuRef192,745,089 - 2,762,613 (+)RGD
CHM1_1192,977,119 - 2,995,109 (+)NCBI
T2T-CHM13v2.0192,951,060 - 2,968,675 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024760   ⟹   NP_079036
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,564 - 2,995,179 (+)NCBI
GRCh37192,977,536 - 2,995,182 (+)RGD
Build 36192,928,562 - 2,946,176 (+)NCBI Archive
Celera192,911,604 - 2,929,249 (+)RGD
HuRef192,745,089 - 2,762,613 (+)RGD
CHM1_1192,977,119 - 2,995,109 (+)NCBI
T2T-CHM13v2.0192,951,060 - 2,968,675 (+)NCBI
Sequence:
RefSeq Acc Id: NR_138612
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,564 - 2,980,407 (+)NCBI
T2T-CHM13v2.0192,951,060 - 2,953,906 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259645   ⟹   XP_005259702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,564 - 2,995,179 (+)NCBI
GRCh37192,977,536 - 2,995,182 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528300   ⟹   XP_011526602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,401 - 2,995,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528301   ⟹   XP_011526603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,983,670 - 2,995,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451722   ⟹   XP_024307490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,983,384 - 2,995,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451723   ⟹   XP_024307491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,983,196 - 2,995,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451724   ⟹   XP_024307492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,987,117 - 2,995,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054322185   ⟹   XP_054178160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,951,010 - 2,968,675 (+)NCBI
RefSeq Acc Id: XM_054322186   ⟹   XP_054178161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,950,897 - 2,968,675 (+)NCBI
RefSeq Acc Id: XM_054322187   ⟹   XP_054178162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,957,169 - 2,968,675 (+)NCBI
RefSeq Acc Id: XM_054322188   ⟹   XP_054178163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,956,883 - 2,968,675 (+)NCBI
RefSeq Acc Id: XM_054322189   ⟹   XP_054178164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,956,695 - 2,968,675 (+)NCBI
RefSeq Acc Id: XM_054322190   ⟹   XP_054178165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,960,607 - 2,968,675 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001137458 (Get FASTA)   NCBI Sequence Viewer  
  NP_079036 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259702 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526602 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526603 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307490 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307491 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307492 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178160 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178161 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178165 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD38076 (Get FASTA)   NCBI Sequence Viewer  
  AAH07215 (Get FASTA)   NCBI Sequence Viewer  
  AAH13986 (Get FASTA)   NCBI Sequence Viewer  
  AAH20206 (Get FASTA)   NCBI Sequence Viewer  
  BAB14815 (Get FASTA)   NCBI Sequence Viewer  
  CAE91985 (Get FASTA)   NCBI Sequence Viewer  
  EAW69350 (Get FASTA)   NCBI Sequence Viewer  
  EAW69351 (Get FASTA)   NCBI Sequence Viewer  
  EAW69352 (Get FASTA)   NCBI Sequence Viewer  
  EAW69353 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000246112
  ENSP00000246112.3
  ENSP00000406893
  ENSP00000406893.1
  ENSP00000411783.1
  ENSP00000467126.1
GenBank Protein Q9H808 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079036   ⟸   NM_024760
- Peptide Label: isoform 2
- UniProtKB: Q6PJM9 (UniProtKB/TrEMBL),   A0A087X0R4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001137458   ⟸   NM_001143986
- Peptide Label: isoform 1
- UniProtKB: J3KMZ1 (UniProtKB/Swiss-Prot),   Q9H808 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259702   ⟸   XM_005259645
- Peptide Label: isoform X1
- UniProtKB: J3KMZ1 (UniProtKB/Swiss-Prot),   Q9H808 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526602   ⟸   XM_011528300
- Peptide Label: isoform X1
- UniProtKB: J3KMZ1 (UniProtKB/Swiss-Prot),   Q9H808 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526603   ⟸   XM_011528301
- Peptide Label: isoform X2
- UniProtKB: A0A087X0R4 (UniProtKB/TrEMBL),   Q6PJM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307492   ⟸   XM_024451724
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024307491   ⟸   XM_024451723
- Peptide Label: isoform X2
- UniProtKB: A0A087X0R4 (UniProtKB/TrEMBL),   Q6PJM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307490   ⟸   XM_024451722
- Peptide Label: isoform X2
- UniProtKB: A0A087X0R4 (UniProtKB/TrEMBL),   Q6PJM9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000406893   ⟸   ENST00000452088
Ensembl Acc Id: ENSP00000411783   ⟸   ENST00000453329
Ensembl Acc Id: ENSP00000246112   ⟸   ENST00000246112
Ensembl Acc Id: ENSP00000467126   ⟸   ENST00000482627
RefSeq Acc Id: XP_054178161   ⟸   XM_054322186
- Peptide Label: isoform X1
- UniProtKB: Q9H808 (UniProtKB/Swiss-Prot),   J3KMZ1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054178160   ⟸   XM_054322185
- Peptide Label: isoform X1
- UniProtKB: Q9H808 (UniProtKB/Swiss-Prot),   J3KMZ1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054178164   ⟸   XM_054322189
- Peptide Label: isoform X2
- UniProtKB: A0A087X0R4 (UniProtKB/TrEMBL),   Q6PJM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178163   ⟸   XM_054322188
- Peptide Label: isoform X2
- UniProtKB: A0A087X0R4 (UniProtKB/TrEMBL),   Q6PJM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178162   ⟸   XM_054322187
- Peptide Label: isoform X2
- UniProtKB: A0A087X0R4 (UniProtKB/TrEMBL),   Q6PJM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178165   ⟸   XM_054322190
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H808-F1-model_v2 AlphaFold Q9H808 1-572 view protein structure

Promoters
RGD ID:6796108
Promoter ID:HG_KWN:28493
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001143986,   NM_024760,   OTTHUMT00000345818,   OTTHUMT00000345819,   OTTHUMT00000345821,   UC010DTG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36192,928,281 - 2,928,781 (+)MPROMDB
RGD ID:7237975
Promoter ID:EPDNEW_H24733
Type:initiation region
Name:TLE6_2
Description:transducin like enhancer of split 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24734  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,387 - 2,977,447EPDNEW
RGD ID:7237977
Promoter ID:EPDNEW_H24734
Type:initiation region
Name:TLE6_1
Description:transducin like enhancer of split 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24733  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,977,565 - 2,977,625EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30788 AgrOrtholog
COSMIC TLE6 COSMIC
Ensembl Genes ENSG00000104953 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000246112 ENTREZGENE
  ENST00000246112.9 UniProtKB/Swiss-Prot
  ENST00000452088 ENTREZGENE
  ENST00000452088.5 UniProtKB/Swiss-Prot
  ENST00000453329.5 UniProtKB/TrEMBL
  ENST00000482627 ENTREZGENE
  ENST00000482627.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104953 GTEx
HGNC ID HGNC:30788 ENTREZGENE
Human Proteome Map TLE6 Human Proteome Map
InterPro Groucho_enhance UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79816 UniProtKB/Swiss-Prot
NCBI Gene 79816 ENTREZGENE
OMIM 612399 OMIM
PANTHER PTHR10814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSDUCIN-LIKE ENHANCER PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot
PharmGKB PA134948893 PharmGKB
PRINTS GROUCHOFAMLY UniProtKB/Swiss-Prot
PROSITE WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0R4 ENTREZGENE
  C9J532_HUMAN UniProtKB/TrEMBL
  J3KMZ1 ENTREZGENE
  K7ENW8_HUMAN UniProtKB/TrEMBL
  Q6PJM9 ENTREZGENE, UniProtKB/TrEMBL
  Q9H808 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A087X0R4 UniProtKB/TrEMBL
  J3KMZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 TLE6  TLE family member 6, subcortical maternal complex member    transducin like enhancer of split 6  Symbol and/or name change 5135510 APPROVED
2015-12-01 TLE6  transducin like enhancer of split 6    transducin-like enhancer of split 6  Symbol and/or name change 5135510 APPROVED
2014-03-12 TLE6  transducin-like enhancer of split 6    transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)  Symbol and/or name change 5135510 APPROVED