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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TLE6 | Human | Oocyte/Zygote/Embryo Maturation Arrest 15 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TLE6 | Human | Oocyte/Zygote/Embryo Maturation Arrest 15 | | IAGP | | 7240710 | | OMIM | | |
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# | 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 |
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 |
TLE6 (Homo sapiens - human) |
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Tle6 (Mus musculus - house mouse) |
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Tle6 (Rattus norvegicus - Norway rat) |
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Tle6 (Chinchilla lanigera - long-tailed chinchilla) |
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TLE6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TLE6 (Canis lupus familiaris - dog) |
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Tle6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TLE6 (Sus scrofa - pig) |
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TLE6 (Chlorocebus sabaeus - green monkey) |
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Tle6 (Heterocephalus glaber - naked mole-rat) |
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Variants in TLE6
83 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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 |
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: |
|
Ensembl Acc Id: | ENST00000452088 ⟹ ENSP00000406893 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000453329 ⟹ ENSP00000411783 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000468176 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000469572 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000474207 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000478073 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000482627 ⟹ ENSP00000467126 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000497878 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000591953 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001143986 ⟹ NP_001137458 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_024760 ⟹ NP_079036 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_138612 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005259645 ⟹ XP_005259702 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011528300 ⟹ XP_011526602 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011528301 ⟹ XP_011526603 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024451722 ⟹ XP_024307490 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024451723 ⟹ XP_024307491 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024451724 ⟹ XP_024307492 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054322185 ⟹ XP_054178160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322186 ⟹ XP_054178161 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322187 ⟹ XP_054178162 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322188 ⟹ XP_054178163 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322189 ⟹ XP_054178164 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322190 ⟹ XP_054178165 | ||||||||
Type: | CODING | ||||||||
Position: |
|
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H808-F1-model_v2 | AlphaFold | Q9H808 | 1-572 | view protein structure |
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: |
|
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: |
|
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: |
|
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 |
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 |