Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | A spontaneous mutation of the rat Themis gene leads to impaired function of regulatory T cells linked to inflammatory bowel disease. | Chabod M, etal., PLoS Genet. 2012 Jan;8(1):e1002461. doi: 10.1371/journal.pgen.1002461. Epub 2012 Jan 19. |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11329013 | PMID:12477932 | PMID:14702039 | PMID:16344560 | PMID:19597497 | PMID:19597498 | PMID:19597499 | PMID:19620281 | PMID:19621038 | PMID:19805304 | PMID:19913121 | PMID:20095854 |
PMID:20190752 | PMID:20628086 | PMID:21189249 | PMID:21833088 | PMID:21873635 | PMID:22610119 | PMID:22610502 | PMID:22732588 | PMID:23455924 | PMID:23460737 | PMID:23534349 | PMID:23820479 |
PMID:24226767 | PMID:25535246 | PMID:27438997 | PMID:28046066 | PMID:28250424 | PMID:28514442 | PMID:32004441 | PMID:33961781 |
THEMIS (Homo sapiens - human) |
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Themis (Mus musculus - house mouse) |
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Themis (Rattus norvegicus - Norway rat) |
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Themis (Chinchilla lanigera - long-tailed chinchilla) |
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THEMIS (Pan paniscus - bonobo/pygmy chimpanzee) |
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THEMIS (Canis lupus familiaris - dog) |
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Themis (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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THEMIS (Sus scrofa - pig) |
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THEMIS (Chlorocebus sabaeus - green monkey) |
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Themis (Heterocephalus glaber - naked mole-rat) |
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Variants in THEMIS
49 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001164687.1(THEMIS):c.604+1252G>T | single nucleotide variant | Lung cancer [RCV000096517] | Chr6:127828224 [GRCh38] Chr6:128149369 [GRCh37] Chr6:6q22.33 |
uncertain significance |
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 | copy number loss | See cases [RCV000051196] | Chr6:108944899..132067720 [GRCh38] Chr6:109266102..132388860 [GRCh37] Chr6:109372795..132430553 [NCBI36] Chr6:6q21-23.2 |
pathogenic |
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 | copy number loss | See cases [RCV000052196] | Chr6:115601230..128514324 [GRCh38] Chr6:115922394..128835469 [GRCh37] Chr6:116029087..128877162 [NCBI36] Chr6:6q22.1-22.33 |
pathogenic |
GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1 | copy number loss | See cases [RCV000052199] | Chr6:126255554..129431726 [GRCh38] Chr6:126576700..129752871 [GRCh37] Chr6:126618393..129794564 [NCBI36] Chr6:6q22.32-22.33 |
pathogenic |
NM_001164687.1(THEMIS):c.593G>A (p.Gly198Asp) | single nucleotide variant | Malignant melanoma [RCV000067104] | Chr6:127829487 [GRCh38] Chr6:128150632 [GRCh37] Chr6:128192325 [NCBI36] Chr6:6q22.33 |
not provided |
NM_001164687.1(THEMIS):c.211C>T (p.His71Tyr) | single nucleotide variant | Malignant melanoma [RCV000067105] | Chr6:127829869 [GRCh38] Chr6:128151014 [GRCh37] Chr6:128192707 [NCBI36] Chr6:6q22.33 |
not provided |
NM_001010923.2(THEMIS):c.24C>T (p.Phe8=) | single nucleotide variant | Malignant melanoma [RCV000067106] | Chr6:127900909 [GRCh38] Chr6:128222054 [GRCh37] Chr6:128263747 [NCBI36] Chr6:6q22.33 |
not provided |
NM_001164687.1(THEMIS):c.966C>T (p.Ile322=) | single nucleotide variant | Malignant melanoma [RCV000061309] | Chr6:127813570 [GRCh38] Chr6:128134715 [GRCh37] Chr6:128176408 [NCBI36] Chr6:6q22.33 |
not provided |
NM_001164687.1(THEMIS):c.97G>A (p.Glu33Lys) | single nucleotide variant | Malignant melanoma [RCV000061310] | Chr6:127855078 [GRCh38] Chr6:128176223 [GRCh37] Chr6:128217916 [NCBI36] Chr6:6q22.33 |
not provided |
GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1 | copy number loss | See cases [RCV000137920] | Chr6:125021773..127771834 [GRCh38] Chr6:125342919..128092979 [GRCh37] Chr6:125384618..128134672 [NCBI36] Chr6:6q22.31-22.33 |
uncertain significance |
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 | copy number gain | See cases [RCV000139729] | Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 | copy number loss | See cases [RCV000142805] | Chr6:126494533..132497855 [GRCh38] Chr6:126815679..132818994 [GRCh37] Chr6:126857372..132860687 [NCBI36] Chr6:6q22.32-23.2 |
likely pathogenic |
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 6q22.33(chr6:127303904-128482021)x1 | copy number loss | See cases [RCV000510376] | Chr6:127303904..128482021 [GRCh37] Chr6:6q22.33 |
likely benign |
GRCh37/hg19 6q22.33(chr6:128184355-128984867)x1 | copy number loss | See cases [RCV000510533] | Chr6:128184355..128984867 [GRCh37] Chr6:6q22.33 |
uncertain significance |
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 6q22.31-23.2(chr6:122612641-131564463)x1 | copy number loss | See cases [RCV000511386] | Chr6:122612641..131564463 [GRCh37] Chr6:6q22.31-23.2 |
pathogenic |
NM_001010923.3(THEMIS):c.988A>G (p.Arg330Gly) | single nucleotide variant | Inborn genetic diseases [RCV003274706] | Chr6:127813653 [GRCh38] Chr6:128134798 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.481C>T (p.His161Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003256955] | Chr6:127829704 [GRCh38] Chr6:128150849 [GRCh37] Chr6:6q22.33 |
uncertain significance |
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] | Chr6:112939290..132327952 [GRCh37] Chr6:6q21-23.2 |
drug response |
GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1 | copy number loss | not provided [RCV000682722] | Chr6:126419160..128801386 [GRCh37] Chr6:6q22.32-22.33 |
uncertain significance |
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 6q22.33(chr6:127977160-128087172)x3 | copy number gain | not provided [RCV000746025] | Chr6:127977160..128087172 [GRCh37] Chr6:6q22.33 |
benign |
GRCh37/hg19 6q22.33(chr6:128108698-128139663)x3 | copy number gain | not provided [RCV000746026] | Chr6:128108698..128139663 [GRCh37] Chr6:6q22.33 |
benign |
NM_001010923.3(THEMIS):c.709+9C>G | single nucleotide variant | not provided [RCV000919402] | Chr6:127829467 [GRCh38] Chr6:128150612 [GRCh37] Chr6:6q22.33 |
likely benign |
NM_001010923.3(THEMIS):c.107T>C (p.Met36Thr) | single nucleotide variant | not provided [RCV000953967] | Chr6:127855173 [GRCh38] Chr6:128176318 [GRCh37] Chr6:6q22.33 |
benign |
NM_001010923.3(THEMIS):c.1751C>T (p.Ser584Phe) | single nucleotide variant | not provided [RCV000909828] | Chr6:127812890 [GRCh38] Chr6:128134035 [GRCh37] Chr6:6q22.33 |
likely benign |
NM_001010923.3(THEMIS):c.108G>T (p.Met36Ile) | single nucleotide variant | Inborn genetic diseases [RCV003271971] | Chr6:127855172 [GRCh38] Chr6:128176317 [GRCh37] Chr6:6q22.33 |
uncertain significance |
Single allele | deletion | Interstitial 6q microdeletion syndrome [RCV002280353] | Chr6:115941808..133892653 [GRCh38] Chr6:6q22.1-23.2 |
pathogenic |
GRCh38/hg38 6q22.33(chr6:127633679-127755583)x3 | copy number gain | See cases [RCV000140315] | Chr6:127633679..127755583 [GRCh38] Chr6:127954824..128076728 [GRCh37] Chr6:127996517..128118421 [NCBI36] Chr6:6q22.33 |
likely benign |
GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1 | copy number loss | See cases [RCV000448929] | Chr6:126419160..128801386 [GRCh37] Chr6:6q22.32-22.33 |
uncertain significance |
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 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386) | copy number loss | not specified [RCV002053618] | Chr6:126419160..128801386 [GRCh37] Chr6:6q22.32-22.33 |
uncertain significance |
GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1 | copy number loss | not provided [RCV001834303] | Chr6:125037475..129494795 [GRCh37] Chr6:6q22.31-22.33 |
pathogenic |
GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386) | copy number loss | not specified [RCV002053616] | Chr6:122839432..128801386 [GRCh37] Chr6:6q22.31-22.33 |
pathogenic |
NM_001010923.3(THEMIS):c.446T>C (p.Met149Thr) | single nucleotide variant | Inborn genetic diseases [RCV003279488] | Chr6:127829739 [GRCh38] Chr6:128150884 [GRCh37] Chr6:6q22.33 |
uncertain significance |
GRCh37/hg19 6q22.33(chr6:127853200-128099649)x1 | copy number loss | not provided [RCV002474906] | Chr6:127853200..128099649 [GRCh37] Chr6:6q22.33 |
uncertain significance |
GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1 | copy number loss | not provided [RCV002472894] | Chr6:120059951..130033233 [GRCh37] Chr6:6q22.31-22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1568C>T (p.Ala523Val) | single nucleotide variant | Inborn genetic diseases [RCV002818335] | Chr6:127813073 [GRCh38] Chr6:128134218 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1114G>A (p.Ala372Thr) | single nucleotide variant | Inborn genetic diseases [RCV002865894] | Chr6:127813527 [GRCh38] Chr6:128134672 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1472T>A (p.Leu491His) | single nucleotide variant | Inborn genetic diseases [RCV002686783] | Chr6:127813169 [GRCh38] Chr6:128134314 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.499T>G (p.Leu167Val) | single nucleotide variant | Inborn genetic diseases [RCV002731875] | Chr6:127829686 [GRCh38] Chr6:128150831 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1777A>T (p.Thr593Ser) | single nucleotide variant | Inborn genetic diseases [RCV002754071] | Chr6:127719805 [GRCh38] Chr6:128040950 [GRCh37] Chr6:6q22.33 |
likely benign |
NM_001010923.3(THEMIS):c.28C>T (p.His10Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002798043] | Chr6:127900905 [GRCh38] Chr6:128222050 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.431T>C (p.Ile144Thr) | single nucleotide variant | Inborn genetic diseases [RCV002666501] | Chr6:127829754 [GRCh38] Chr6:128150899 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1252A>G (p.Lys418Glu) | single nucleotide variant | Inborn genetic diseases [RCV002713095] | Chr6:127813389 [GRCh38] Chr6:128134534 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1769T>G (p.Val590Gly) | single nucleotide variant | Inborn genetic diseases [RCV002929761] | Chr6:127719813 [GRCh38] Chr6:128040958 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.535G>A (p.Glu179Lys) | single nucleotide variant | Inborn genetic diseases [RCV002893086] | Chr6:127829650 [GRCh38] Chr6:128150795 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.95C>T (p.Ser32Phe) | single nucleotide variant | Inborn genetic diseases [RCV002916963] | Chr6:127855185 [GRCh38] Chr6:128176330 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.754G>A (p.Val252Ile) | single nucleotide variant | Inborn genetic diseases [RCV003003628] | Chr6:127813887 [GRCh38] Chr6:128135032 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1760G>A (p.Arg587His) | single nucleotide variant | Inborn genetic diseases [RCV002644627] | Chr6:127719822 [GRCh38] Chr6:128040967 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.727C>T (p.Arg243Cys) | single nucleotide variant | Inborn genetic diseases [RCV002641705] | Chr6:127813914 [GRCh38] Chr6:128135059 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1658C>T (p.Pro553Leu) | single nucleotide variant | Inborn genetic diseases [RCV002793007] | Chr6:127812983 [GRCh38] Chr6:128134128 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.773C>T (p.Ser258Phe) | single nucleotide variant | Inborn genetic diseases [RCV002670255] | Chr6:127813868 [GRCh38] Chr6:128135013 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1795A>C (p.Asn599His) | single nucleotide variant | Inborn genetic diseases [RCV003010912] | Chr6:127719787 [GRCh38] Chr6:128040932 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1523G>T (p.Arg508Leu) | single nucleotide variant | Inborn genetic diseases [RCV002678017] | Chr6:127813118 [GRCh38] Chr6:128134263 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.473A>G (p.His158Arg) | single nucleotide variant | Inborn genetic diseases [RCV003175418] | Chr6:127829712 [GRCh38] Chr6:128150857 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1135A>G (p.Lys379Glu) | single nucleotide variant | Inborn genetic diseases [RCV003215658] | Chr6:127813506 [GRCh38] Chr6:128134651 [GRCh37] Chr6:6q22.33 |
likely benign |
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 | copy number loss | Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] | Chr6:113857248..130442177 [GRCh38] Chr6:6q21-23.1 |
pathogenic |
NM_001010923.3(THEMIS):c.1256A>T (p.Lys419Met) | single nucleotide variant | Inborn genetic diseases [RCV003350970] | Chr6:127813385 [GRCh38] Chr6:128134530 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.728G>A (p.Arg243His) | single nucleotide variant | Inborn genetic diseases [RCV003370786] | Chr6:127813913 [GRCh38] Chr6:128135058 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.236C>T (p.Pro79Leu) | single nucleotide variant | Inborn genetic diseases [RCV003356200] | Chr6:127855044 [GRCh38] Chr6:128176189 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.1228G>A (p.Val410Ile) | single nucleotide variant | Inborn genetic diseases [RCV003369154] | Chr6:127813413 [GRCh38] Chr6:128134558 [GRCh37] Chr6:6q22.33 |
uncertain significance |
GRCh37/hg19 6q22.33(chr6:128226775-128818082)x3 | copy number gain | not provided [RCV003484650] | Chr6:128226775..128818082 [GRCh37] Chr6:6q22.33 |
uncertain significance |
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 | copy number loss | not provided [RCV003482930] | Chr6:120218852..137160850 [GRCh37] Chr6:6q22.31-23.3 |
pathogenic |
GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1 | copy number loss | not specified [RCV003986658] | Chr6:124515654..130227224 [GRCh37] Chr6:6q22.31-22.33 |
uncertain significance |
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 | copy number gain | not specified [RCV003986625] | Chr6:110546061..131896074 [GRCh37] Chr6:6q21-23.2 |
likely pathogenic |
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 | copy number gain | not specified [RCV003986631] | Chr6:119840686..156623091 [GRCh37] Chr6:6q22.31-25.3 |
pathogenic |
NM_001010923.3(THEMIS):c.1673C>T (p.Pro558Leu) | single nucleotide variant | Inborn genetic diseases [RCV003340180] | Chr6:127812968 [GRCh38] Chr6:128134113 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.590C>A (p.Thr197Lys) | single nucleotide variant | Inborn genetic diseases [RCV003188812] | Chr6:127829595 [GRCh38] Chr6:128150740 [GRCh37] Chr6:6q22.33 |
uncertain significance |
NM_001010923.3(THEMIS):c.24C>A (p.Phe8Leu) | single nucleotide variant | Inborn genetic diseases [RCV003193061] | Chr6:127900909 [GRCh38] Chr6:128222054 [GRCh37] Chr6:6q22.33 |
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. |
RH93059 |
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RH122986 |
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G59455 |
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SHGC-144779 |
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WI-10674 |
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RH37468 |
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G54574 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | |||||||||||||||||
Medium | 2 | 32 | 4 | 103 | 9 | 3 | 4 | 9 | |||||||||
Low | 543 | 795 | 561 | 172 | 1256 | 125 | 318 | 21 | 726 | 140 | 311 | 1017 | 47 | 426 | 114 | 2 | |
Below cutoff | 1670 | 1832 | 1061 | 402 | 380 | 286 | 3314 | 1636 | 2742 | 194 | 956 | 394 | 116 | 771 | 2233 | 2 |
RefSeq Acc Id: | ENST00000368248 ⟹ ENSP00000357231 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000368250 ⟹ ENSP00000357233 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000434358 ⟹ ENSP00000387740 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000537166 ⟹ ENSP00000439863 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000626040 ⟹ ENSP00000486494 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000630369 ⟹ ENSP00000487358 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001010923 ⟹ NP_001010923 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001164685 ⟹ NP_001158157 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001164687 ⟹ NP_001158159 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318531 ⟹ NP_001305460 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001394520 ⟹ NP_001381449 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001394521 ⟹ NP_001381450 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001394522 ⟹ NP_001381451 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047418763 ⟹ XP_047274719 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047418764 ⟹ XP_047274720 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047418765 ⟹ XP_047274721 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047418766 ⟹ XP_047274722 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047418767 ⟹ XP_047274723 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054355406 ⟹ XP_054211381 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054355407 ⟹ XP_054211382 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054355408 ⟹ XP_054211383 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054355409 ⟹ XP_054211384 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054355410 ⟹ XP_054211385 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_001158159 ⟸ NM_001164687 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001010923 ⟸ NM_001010923 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q5T3C5 (UniProtKB/Swiss-Prot), Q5T3C4 (UniProtKB/Swiss-Prot), F5H1J9 (UniProtKB/Swiss-Prot), B3KY07 (UniProtKB/Swiss-Prot), B3KW32 (UniProtKB/Swiss-Prot), B3KT31 (UniProtKB/Swiss-Prot), A8K7N1 (UniProtKB/Swiss-Prot), A1L4F0 (UniProtKB/Swiss-Prot), Q6MZT7 (UniProtKB/Swiss-Prot), Q8N1K5 (UniProtKB/Swiss-Prot), A0A0D9SFD2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001158157 ⟸ NM_001164685 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001305460 ⟸ NM_001318531 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000486494 ⟸ ENST00000626040 |
RefSeq Acc Id: | ENSP00000439863 ⟸ ENST00000537166 |
RefSeq Acc Id: | ENSP00000357233 ⟸ ENST00000368250 |
RefSeq Acc Id: | ENSP00000357231 ⟸ ENST00000368248 |
RefSeq Acc Id: | ENSP00000487358 ⟸ ENST00000630369 |
RefSeq Acc Id: | ENSP00000387740 ⟸ ENST00000434358 |
RefSeq Acc Id: | NP_001381449 ⟸ NM_001394520 |
- Peptide Label: | isoform 5 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381450 ⟸ NM_001394521 |
- Peptide Label: | isoform 6 |
RefSeq Acc Id: | NP_001381451 ⟸ NM_001394522 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047274722 ⟸ XM_047418766 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q8N1K5 (UniProtKB/Swiss-Prot), Q5T3C5 (UniProtKB/Swiss-Prot), Q5T3C4 (UniProtKB/Swiss-Prot), F5H1J9 (UniProtKB/Swiss-Prot), B3KY07 (UniProtKB/Swiss-Prot), B3KW32 (UniProtKB/Swiss-Prot), B3KT31 (UniProtKB/Swiss-Prot), A8K7N1 (UniProtKB/Swiss-Prot), A1L4F0 (UniProtKB/Swiss-Prot), Q6MZT7 (UniProtKB/Swiss-Prot), A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047274720 ⟸ XM_047418764 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047274723 ⟸ XM_047418767 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047274721 ⟸ XM_047418765 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047274719 ⟸ XM_047418763 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054211384 ⟸ XM_054355409 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054211382 ⟸ XM_054355407 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054211385 ⟸ XM_054355410 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A0D9SFD2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054211383 ⟸ XM_054355408 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054211381 ⟸ XM_054355406 |
- Peptide Label: | isoform X6 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8N1K5-F1-model_v2 | AlphaFold | Q8N1K5 | 1-641 | view protein structure |
RGD ID: | 7209109 | ||||||||
Promoter ID: | EPDNEW_H10300 | ||||||||
Type: | initiation region | ||||||||
Name: | THEMIS_1 | ||||||||
Description: | thymocyte selection associated | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6804864 | ||||||||
Promoter ID: | HG_KWN:54950 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Jurkat | ||||||||
Transcripts: | NM_001010923, NM_001164685, OTTHUMT00000042157 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:21569 | AgrOrtholog |
COSMIC | THEMIS | COSMIC |
Ensembl Genes | ENSG00000172673 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSG00000275122 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000368248 | ENTREZGENE |
ENST00000368248.5 | UniProtKB/Swiss-Prot | |
ENST00000368250.5 | UniProtKB/Swiss-Prot | |
ENST00000434358.3 | UniProtKB/TrEMBL | |
ENST00000537166 | ENTREZGENE | |
ENST00000537166.5 | UniProtKB/Swiss-Prot | |
ENST00000610842.4 | UniProtKB/Swiss-Prot | |
ENST00000613862.2 | UniProtKB/Swiss-Prot | |
ENST00000614155.3 | UniProtKB/Swiss-Prot | |
ENST00000626040.2 | UniProtKB/TrEMBL | |
ENST00000626111.2 | UniProtKB/TrEMBL | |
ENST00000630369 | ENTREZGENE | |
ENST00000630369.2 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000172673 | GTEx |
ENSG00000275122 | GTEx | |
HGNC ID | HGNC:21569 | ENTREZGENE |
Human Proteome Map | THEMIS | Human Proteome Map |
InterPro | CABIT_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
THEMIS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:387357 | UniProtKB/Swiss-Prot |
NCBI Gene | 387357 | ENTREZGENE |
OMIM | 613607 | OMIM |
PANTHER | PROTEIN THEMIS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR15215 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | CABIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA165618330 | PharmGKB |
UniProt | A0A0D9SFD2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0G2JQP7_HUMAN | UniProtKB/TrEMBL | |
A1L4F0 | ENTREZGENE | |
A8K7N1 | ENTREZGENE | |
B3KT31 | ENTREZGENE | |
B3KW32 | ENTREZGENE | |
B3KY07 | ENTREZGENE | |
F5H1J9 | ENTREZGENE | |
Q5T3C4 | ENTREZGENE | |
Q5T3C5 | ENTREZGENE | |
Q6MZT7 | ENTREZGENE | |
Q8N1K5 | ENTREZGENE, UniProtKB/Swiss-Prot | |
X1WI26_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A1L4F0 | UniProtKB/Swiss-Prot |
A8K7N1 | UniProtKB/Swiss-Prot | |
B3KT31 | UniProtKB/Swiss-Prot | |
B3KW32 | UniProtKB/Swiss-Prot | |
B3KY07 | UniProtKB/Swiss-Prot | |
F5H1J9 | UniProtKB/Swiss-Prot | |
Q5T3C4 | UniProtKB/Swiss-Prot | |
Q5T3C5 | UniProtKB/Swiss-Prot | |
Q6MZT7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2022-04-14 | THEMIS | thymocyte selection associated | LOC112267973 | uncharacterized LOC112267973 | Data merged from RGD:38660798 | 737654 | PROVISIONAL |