THEMIS (thymocyte selection associated) - Rat Genome Database

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Gene: THEMIS (thymocyte selection associated) Homo sapiens
Analyze
Symbol: THEMIS
Name: thymocyte selection associated
RGD ID: 1603481
HGNC Page HGNC:21569
Description: Predicted to be involved in T cell receptor signaling pathway; negative T cell selection; and positive T cell selection. Predicted to be located in cell-cell junction. Predicted to be part of COP9 signalosome. Predicted to be active in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA325O24.3; bA325O24.4; C6orf190; C6orf207; FLJ40584; GASP; GRB2-associated protein; LOC112267973; MGC163388; signaling phosphoprotein specific for T cells; SPOT; THEMIS1; thymocyte expressed molecule involved in selection; thymocyte selection pathway associated; thymocyte-expressed molecule involved in selection; TSEPA; uncharacterized LOC112267973
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386127,696,628 - 127,918,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6127,708,072 - 127,918,631 (-)EnsemblGRCh38hg38GRCh38
GRCh376128,029,339 - 128,239,740 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366128,071,038 - 128,281,435 (-)NCBINCBI36Build 36hg18NCBI36
Celera6128,771,575 - 128,982,019 (-)NCBICelera
Cytogenetic Map6q22.33NCBI
HuRef6125,605,605 - 125,816,711 (-)NCBIHuRef
CHM1_16128,293,828 - 128,504,020 (-)NCBICHM1_1
T2T-CHM13v2.06128,897,128 - 129,107,550 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell-cell junction  (IEA)
COP9 signalosome  (IEA,ISS)
cytoplasm  (IBA,IEA,ISS)
nucleus  (IBA,IEA,ISS)

Molecular Function

References

References - curated
# 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
Additional References at PubMed
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  


Genomics

Comparative Map Data
THEMIS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386127,696,628 - 127,918,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6127,708,072 - 127,918,631 (-)EnsemblGRCh38hg38GRCh38
GRCh376128,029,339 - 128,239,740 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366128,071,038 - 128,281,435 (-)NCBINCBI36Build 36hg18NCBI36
Celera6128,771,575 - 128,982,019 (-)NCBICelera
Cytogenetic Map6q22.33NCBI
HuRef6125,605,605 - 125,816,711 (-)NCBIHuRef
CHM1_16128,293,828 - 128,504,020 (-)NCBICHM1_1
T2T-CHM13v2.06128,897,128 - 129,107,550 (-)NCBIT2T-CHM13v2.0
Themis
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391028,544,356 - 28,759,816 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1028,544,356 - 28,759,814 (+)EnsemblGRCm39 Ensembl
GRCm381028,668,360 - 28,883,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1028,668,360 - 28,883,818 (+)EnsemblGRCm38mm10GRCm38
MGSCv371028,388,201 - 28,602,555 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361028,357,811 - 28,572,165 (+)NCBIMGSCv36mm8
Celera1029,586,196 - 29,816,300 (+)NCBICelera
Cytogenetic Map10A4NCBI
cM Map1016.06NCBI
Themis
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8118,251,136 - 18,483,851 (-)NCBIGRCr8
mRatBN7.2116,433,906 - 16,623,889 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl116,432,631 - 16,664,329 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0117,152,973 - 17,378,225 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl117,171,631 - 17,378,047 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0118,308,043 - 18,532,366 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4117,032,677 - 17,226,924 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera114,851,097 - 15,078,338 (-)NCBICelera
Cytogenetic Map1p12NCBI
Themis
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554368,743,835 - 8,909,040 (-)NCBIChiLan1.0ChiLan1.0
THEMIS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25147,687,689 - 147,891,762 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16145,596,428 - 145,800,480 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06125,489,491 - 125,685,995 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16129,601,170 - 129,814,542 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6129,601,176 - 129,797,112 (-)Ensemblpanpan1.1panPan2
THEMIS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1166,363,172 - 66,540,272 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl166,363,125 - 66,540,327 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha167,190,331 - 67,279,926 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0166,571,969 - 66,748,404 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl166,571,954 - 66,748,440 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1166,494,735 - 66,676,345 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0166,282,091 - 66,458,649 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0166,921,859 - 67,104,609 (-)NCBIUU_Cfam_GSD_1.0
Themis
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946116,589,828 - 116,679,894 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366391,739,380 - 1,915,560 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366391,739,380 - 1,915,545 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THEMIS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl135,333,465 - 35,519,870 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1135,333,210 - 35,530,710 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2138,931,867 - 38,999,233 (+)NCBISscrofa10.2Sscrofa10.2susScr3
THEMIS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11345,665,494 - 45,886,672 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1345,682,663 - 45,884,856 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604017,911,702 - 18,107,125 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Themis
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247532,214,779 - 2,292,936 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THEMIS
49 total Variants

Clinical 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2374
Count of miRNA genes:518
Interacting mature miRNAs:561
Transcripts:ENST00000368248, ENST00000368250, ENST00000434358, ENST00000537166, ENST00000543064
Prediction methods: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.

Markers in Region
RH93059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,029,493 - 128,029,676UniSTSGRCh37
Build 366128,071,186 - 128,071,369RGDNCBI36
Celera6128,771,729 - 128,771,912RGD
Cytogenetic Map6q22.33UniSTS
HuRef6125,605,759 - 125,605,942UniSTS
GeneMap99-GB4 RH Map6514.14UniSTS
RH122986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,033,192 - 128,033,539UniSTSGRCh37
Build 366128,074,885 - 128,075,232RGDNCBI36
Celera6128,775,428 - 128,775,775RGD
Cytogenetic Map6q22.33UniSTS
HuRef6125,609,458 - 125,609,805UniSTS
TNG Radiation Hybrid Map662065.0UniSTS
G59455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,199,711 - 128,199,923UniSTSGRCh37
Build 366128,241,404 - 128,241,616RGDNCBI36
Celera6128,941,954 - 128,942,166RGD
Cytogenetic Map6q22.33UniSTS
HuRef6125,776,367 - 125,776,579UniSTS
TNG Radiation Hybrid Map662980.0UniSTS
SHGC-144779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,238,567 - 128,238,858UniSTSGRCh37
Build 366128,280,260 - 128,280,551RGDNCBI36
Celera6128,980,810 - 128,981,101RGD
Cytogenetic Map6q22.33UniSTS
HuRef6125,815,502 - 125,815,793UniSTS
TNG Radiation Hybrid Map662990.0UniSTS
WI-10674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,118,409 - 128,118,609UniSTSGRCh37
Build 366128,160,102 - 128,160,302RGDNCBI36
Celera6128,860,648 - 128,860,848RGD
Cytogenetic Map6q22.33UniSTS
HuRef6125,695,058 - 125,695,258UniSTS
Whitehead-RH Map6736.7UniSTS
RH37468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,158,979 - 128,159,098UniSTSGRCh37
Build 366128,200,672 - 128,200,791RGDNCBI36
Celera6128,901,217 - 128,901,336RGD
Cytogenetic Map6q22.33UniSTS
HuRef6125,735,630 - 125,735,749UniSTS
GeneMap99-GB4 RH Map6513.62UniSTS
G54574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376128,199,708 - 128,200,007UniSTSGRCh37
Celera6128,941,951 - 128,942,250UniSTS
Cytogenetic Map6q22.33UniSTS
HuRef6125,776,364 - 125,776,663UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system 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

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001010923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK094863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG461112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX956657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA818250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000368248   ⟹   ENSP00000357231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6127,708,200 - 127,901,058 (-)Ensembl
RefSeq Acc Id: ENST00000368250   ⟹   ENSP00000357233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6127,708,072 - 127,918,540 (-)Ensembl
RefSeq Acc Id: ENST00000434358   ⟹   ENSP00000387740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6127,813,577 - 127,900,958 (-)Ensembl
RefSeq Acc Id: ENST00000537166   ⟹   ENSP00000439863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6127,708,194 - 127,918,631 (-)Ensembl
RefSeq Acc Id: ENST00000626040   ⟹   ENSP00000486494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6127,708,811 - 127,918,597 (-)Ensembl
RefSeq Acc Id: ENST00000630369   ⟹   ENSP00000487358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6127,709,383 - 127,901,073 (-)Ensembl
RefSeq Acc Id: NM_001010923   ⟹   NP_001010923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,200 - 127,901,058 (-)NCBI
GRCh376128,029,339 - 128,239,776 (-)RGD
Build 366128,071,038 - 128,281,435 (-)NCBI Archive
Celera6128,771,575 - 128,982,019 (-)RGD
HuRef6125,605,605 - 125,816,711 (-)ENTREZGENE
CHM1_16128,293,828 - 128,486,481 (-)NCBI
T2T-CHM13v2.06128,897,134 - 129,090,017 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164685   ⟹   NP_001158157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,200 - 127,901,058 (-)NCBI
GRCh376128,029,339 - 128,239,776 (-)RGD
Celera6128,771,575 - 128,982,019 (-)RGD
HuRef6125,605,605 - 125,816,711 (-)ENTREZGENE
CHM1_16128,293,828 - 128,486,481 (-)NCBI
T2T-CHM13v2.06128,897,134 - 129,090,017 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164687   ⟹   NP_001158159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,200 - 127,918,595 (-)NCBI
GRCh376128,029,339 - 128,239,776 (-)RGD
Celera6128,771,575 - 128,982,019 (-)RGD
HuRef6125,605,605 - 125,816,711 (-)ENTREZGENE
CHM1_16128,293,828 - 128,504,020 (-)NCBI
T2T-CHM13v2.06128,897,134 - 129,107,550 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318531   ⟹   NP_001305460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,194 - 127,855,188 (-)NCBI
CHM1_16128,293,828 - 128,440,590 (-)NCBI
T2T-CHM13v2.06128,897,128 - 129,044,148 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394520   ⟹   NP_001381449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,200 - 127,918,595 (-)NCBI
T2T-CHM13v2.06128,897,134 - 129,107,550 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394521   ⟹   NP_001381450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,200 - 127,901,058 (-)NCBI
T2T-CHM13v2.06128,897,134 - 129,090,017 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394522   ⟹   NP_001381451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,708,200 - 127,901,058 (-)NCBI
T2T-CHM13v2.06128,897,134 - 129,090,017 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418763   ⟹   XP_047274719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,759,874 - 127,918,595 (-)NCBI
RefSeq Acc Id: XM_047418764   ⟹   XP_047274720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,696,628 - 127,901,058 (-)NCBI
RefSeq Acc Id: XM_047418765   ⟹   XP_047274721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,759,874 - 127,918,595 (-)NCBI
RefSeq Acc Id: XM_047418766   ⟹   XP_047274722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,696,628 - 127,918,595 (-)NCBI
RefSeq Acc Id: XM_047418767   ⟹   XP_047274723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386127,759,874 - 127,918,595 (-)NCBI
RefSeq Acc Id: XM_054355406   ⟹   XP_054211381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06128,948,821 - 129,107,550 (-)NCBI
RefSeq Acc Id: XM_054355407   ⟹   XP_054211382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06128,897,128 - 129,090,017 (-)NCBI
RefSeq Acc Id: XM_054355408   ⟹   XP_054211383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06128,948,821 - 129,107,550 (-)NCBI
RefSeq Acc Id: XM_054355409   ⟹   XP_054211384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06128,897,128 - 129,107,550 (-)NCBI
RefSeq Acc Id: XM_054355410   ⟹   XP_054211385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06128,948,821 - 129,107,550 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001010923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158157 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381451 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274719 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274720 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274721 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274722 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184666 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184667 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184668 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184669 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211382 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211383 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211385 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI30517 (Get FASTA)   NCBI Sequence Viewer  
  BAC05194 (Get FASTA)   NCBI Sequence Viewer  
  BAF84735 (Get FASTA)   NCBI Sequence Viewer  
  BAG52943 (Get FASTA)   NCBI Sequence Viewer  
  BAG53994 (Get FASTA)   NCBI Sequence Viewer  
  BAG54669 (Get FASTA)   NCBI Sequence Viewer  
  CAE45941 (Get FASTA)   NCBI Sequence Viewer  
  CAY56007 (Get FASTA)   NCBI Sequence Viewer  
  CBX47634 (Get FASTA)   NCBI Sequence Viewer  
  EAW48091 (Get FASTA)   NCBI Sequence Viewer  
  EAW48092 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357231
  ENSP00000357231.2
  ENSP00000357233.2
  ENSP00000387740.3
  ENSP00000439863
  ENSP00000439863.1
  ENSP00000480630.2
  ENSP00000480967.1
  ENSP00000484170.2
  ENSP00000486042.1
  ENSP00000486494.1
  ENSP00000487358
  ENSP00000487358.1
GenBank Protein Q8N1K5 (Get FASTA)   NCBI Sequence Viewer  
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
Protein Domains
CABIT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N1K5-F1-model_v2 AlphaFold Q8N1K5 1-641 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
GRCh386127,901,058 - 127,901,118EPDNEW
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:
Human AssemblyChrPosition (strand)Source
Build 366128,263,711 - 128,264,211 (-)MPROMDB

Additional Information

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


Nomenclature History
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