TPK1 (thiamin pyrophosphokinase 1) - Rat Genome Database

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Gene: TPK1 (thiamin pyrophosphokinase 1) Homo sapiens
Analyze
Symbol: TPK1
Name: thiamin pyrophosphokinase 1
RGD ID: 1348190
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in thiamine diphosphate biosynthetic process. Predicted to act upstream of or within thiamine metabolic process. Predicted to be located in cytosol. Implicated in inherited metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HTPK1; placental protein 20; PP20; thiamine diphosphokinase; thiamine kinase; THMD5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38.p13 Ensembl7144,451,941 - 144,836,395 (-)EnsemblGRCh38hg38GRCh38
GRCh387144,451,941 - 144,836,424 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377144,149,034 - 144,533,146 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367143,779,967 - 144,164,079 (-)NCBINCBI36hg18NCBI36
Build 347143,586,690 - 143,970,781NCBI
Celera7138,823,074 - 139,207,017 (-)NCBI
Cytogenetic Map7q35NCBI
HuRef7138,228,218 - 138,611,054 (-)NCBIHuRef
CHM1_17144,157,512 - 144,541,732 (-)NCBICHM1_1
CRA_TCAGchr7v27143,487,292 - 143,871,298 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1332781   PMID:3060175   PMID:3896163   PMID:6303095   PMID:9847074   PMID:10567383   PMID:11342111   PMID:11342117   PMID:12477932   PMID:12690205   PMID:12953792   PMID:14702039  
PMID:15489334   PMID:15664409   PMID:16087053   PMID:16262001   PMID:16344560   PMID:17295612   PMID:18029348   PMID:19460752   PMID:20379614   PMID:21873635   PMID:22152682   PMID:23333304  
PMID:23642734   PMID:25458521   PMID:25502805   PMID:28431625   PMID:29892012   PMID:30483896   PMID:31182584   PMID:31515488   PMID:31964553   PMID:32296183   PMID:32361878   PMID:32513696  
PMID:32694731   PMID:33031988   PMID:34244791  


Genomics

Comparative Map Data
TPK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7144,451,941 - 144,836,395 (-)EnsemblGRCh38hg38GRCh38
GRCh387144,451,941 - 144,836,424 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377144,149,034 - 144,533,146 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367143,779,967 - 144,164,079 (-)NCBINCBI36hg18NCBI36
Build 347143,586,690 - 143,970,781NCBI
Celera7138,823,074 - 139,207,017 (-)NCBI
Cytogenetic Map7q35NCBI
HuRef7138,228,218 - 138,611,054 (-)NCBIHuRef
CHM1_17144,157,512 - 144,541,732 (-)NCBICHM1_1
CRA_TCAGchr7v27143,487,292 - 143,871,298 (-)NCBI
Tpk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39643,316,510 - 43,644,726 (-)NCBIGRCm39mm39
GRCm39 Ensembl643,321,935 - 43,643,212 (-)Ensembl
GRCm38643,339,576 - 43,667,792 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl643,345,001 - 43,666,278 (-)EnsemblGRCm38mm10GRCm38
MGSCv37643,295,006 - 43,616,174 (-)NCBIGRCm37mm9NCBIm37
MGSCv36643,274,614 - 43,595,782 (-)NCBImm8
Celera643,288,958 - 43,609,819 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
Tpk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2472,170,134 - 72,557,707 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl472,170,134 - 72,557,694 (-)Ensembl
Rnor_6.0472,792,252 - 73,174,179 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl472,792,252 - 73,174,179 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04137,495,338 - 137,661,388 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.04137,705,456 - 137,869,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4471,113,965 - 71,521,331 (-)NCBIRGSC3.4rn4RGSC3.4
Celera467,116,073 - 67,485,255 (-)NCBICelera
Cytogenetic Map4q24NCBI
Tpk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955491623,530 - 968,253 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955491621,941 - 968,570 (-)NCBIChiLan1.0ChiLan1.0
TPK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17148,653,898 - 149,036,602 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7148,654,445 - 149,036,342 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v07136,165,941 - 136,549,606 (-)NCBIMhudiblu_PPA_v0panPan3
TPK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1165,257,749 - 5,588,179 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl165,257,205 - 5,636,153 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha166,370,726 - 6,696,344 (+)NCBI
ROS_Cfam_1.0165,117,780 - 5,448,228 (+)NCBI
UMICH_Zoey_3.1165,053,899 - 5,379,513 (+)NCBI
UNSW_CanFamBas_1.0164,910,996 - 5,236,586 (+)NCBI
UU_Cfam_GSD_1.0164,981,542 - 5,307,335 (+)NCBI
Tpk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511811,116,997 - 11,488,862 (+)NCBI
SpeTri2.0NW_0049365271,450,918 - 1,786,431 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9112,931,795 - 113,305,178 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19112,931,370 - 113,305,178 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29124,255,226 - 124,629,455 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Tpk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480010,382,409 - 10,792,459 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D7S498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,363,559 - 144,363,673UniSTSGRCh37
GRCh377144,363,551 - 144,363,689UniSTSGRCh37
Build 367143,994,484 - 143,994,622RGDNCBI36
Celera7139,037,613 - 139,037,727UniSTS
Celera7139,037,605 - 139,037,743RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,441,588 - 138,441,724UniSTS
HuRef7138,441,596 - 138,441,708UniSTS
CRA_TCAGchr7v27143,701,840 - 143,701,954UniSTS
CRA_TCAGchr7v27143,701,832 - 143,701,970UniSTS
Marshfield Genetic Map7155.79UniSTS
Marshfield Genetic Map7155.79RGD
Genethon Genetic Map7158.3UniSTS
TNG Radiation Hybrid Map765584.0UniSTS
GeneMap99-GB4 RH Map7660.46UniSTS
Whitehead-YAC Contig Map7 UniSTS
G42257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,428,948 - 144,429,250UniSTSGRCh37
Build 367144,059,881 - 144,060,183RGDNCBI36
Celera7139,102,855 - 139,103,157RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,506,824 - 138,507,126UniSTS
CRA_TCAGchr7v27143,767,086 - 143,767,388UniSTS
RH103305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,149,084 - 144,149,234UniSTSGRCh37
Build 367143,780,017 - 143,780,167RGDNCBI36
Celera7138,823,124 - 138,823,274RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,228,268 - 138,228,418UniSTS
CRA_TCAGchr7v27143,487,342 - 143,487,492UniSTS
GeneMap99-GB4 RH Map7659.14UniSTS
SHGC-82112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,508,300 - 144,508,571UniSTSGRCh37
Build 367144,139,233 - 144,139,504RGDNCBI36
Celera7139,182,183 - 139,182,454RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,586,210 - 138,586,481UniSTS
CRA_TCAGchr7v27143,846,454 - 143,846,725UniSTS
TNG Radiation Hybrid Map765650.0UniSTS
RH123201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,238,034 - 144,238,315UniSTSGRCh37
Build 367143,868,967 - 143,869,248RGDNCBI36
Celera7138,912,098 - 138,912,379RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,316,094 - 138,316,375UniSTS
CRA_TCAGchr7v27143,576,317 - 143,576,598UniSTS
TNG Radiation Hybrid Map765545.0UniSTS
RH123992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,223,274 - 144,223,588UniSTSGRCh37
Build 367143,854,207 - 143,854,521RGDNCBI36
Celera7138,897,337 - 138,897,651RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,301,334 - 138,301,648UniSTS
CRA_TCAGchr7v27143,561,555 - 143,561,869UniSTS
TNG Radiation Hybrid Map765542.0UniSTS
SHGC-52409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,149,242 - 144,149,352UniSTSGRCh37
Build 367143,780,175 - 143,780,285RGDNCBI36
Celera7138,823,282 - 138,823,392RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,228,426 - 138,228,536UniSTS
CRA_TCAGchr7v27143,487,500 - 143,487,610UniSTS
TNG Radiation Hybrid Map765527.0UniSTS
GeneMap99-G3 RH Map76003.0UniSTS
GDB:1317624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,432,726 - 144,432,810UniSTSGRCh37
Build 367144,063,659 - 144,063,743RGDNCBI36
Celera7139,106,633 - 139,106,717RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,510,602 - 138,510,686UniSTS
CRA_TCAGchr7v27143,770,864 - 143,770,948UniSTS
D7S1925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,153,826 - 144,153,929UniSTSGRCh37
Build 367143,784,759 - 143,784,862RGDNCBI36
Celera7138,827,867 - 138,827,970RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,233,011 - 138,233,114UniSTS
CRA_TCAGchr7v27143,492,084 - 143,492,187UniSTS
GDB:1317190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,225,319 - 144,225,470UniSTSGRCh37
Build 367143,856,252 - 143,856,403RGDNCBI36
Celera7138,899,382 - 138,899,533RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,303,380 - 138,303,531UniSTS
CRA_TCAGchr7v27143,563,600 - 143,563,751UniSTS
GDB:1317558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,338,579 - 144,338,659UniSTSGRCh37
Build 367143,969,512 - 143,969,592RGDNCBI36
Celera7139,012,633 - 139,012,713RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,416,615 - 138,416,695UniSTS
CRA_TCAGchr7v27143,676,860 - 143,676,940UniSTS
RH65851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,254,597 - 144,254,782UniSTSGRCh37
Build 367143,885,530 - 143,885,715RGDNCBI36
Celera7138,928,660 - 138,928,845RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7138,332,656 - 138,332,841UniSTS
CRA_TCAGchr7v27143,592,879 - 143,593,064UniSTS
GeneMap99-GB4 RH Map7662.49UniSTS
NCBI RH Map71430.1UniSTS
D17S610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map10q21.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
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Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D7S498  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q34-q35UniSTS
TNG Radiation Hybrid Map765584.0UniSTS
GeneMap99-GB4 RH Map7660.46UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4629
Count of miRNA genes:1025
Interacting mature miRNAs:1215
Transcripts:ENST00000360057, ENST00000378098, ENST00000378099, ENST00000481645, ENST00000482940, ENST00000489798, ENST00000538212, ENST00000546806, ENST00000547966, ENST00000548460, ENST00000548831, ENST00000549981, ENST00000551062, ENST00000552881
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 198 1 216 2 2 41 101 4 2 1
Low 2408 2719 1690 588 1718 430 4206 2033 3625 345 1324 1566 170 1 1202 2695 6 1
Below cutoff 24 74 36 35 17 35 148 164 107 33 35 43 4 93

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB028138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF297710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY206415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI770816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX446289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA135998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360057   ⟹   ENSP00000353165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,451,941 - 144,836,053 (-)Ensembl
RefSeq Acc Id: ENST00000378098   ⟹   ENSP00000367338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,452,582 - 144,836,053 (-)Ensembl
RefSeq Acc Id: ENST00000378099   ⟹   ENSP00000367339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,451,950 - 144,836,053 (-)Ensembl
RefSeq Acc Id: ENST00000481645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,619,181 - 144,739,477 (-)Ensembl
RefSeq Acc Id: ENST00000482940   ⟹   ENSP00000449909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,451,941 - 144,738,922 (-)Ensembl
RefSeq Acc Id: ENST00000489798   ⟹   ENSP00000450028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,643,544 - 144,738,924 (-)Ensembl
RefSeq Acc Id: ENST00000538212   ⟹   ENSP00000438813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,451,943 - 144,724,159 (-)Ensembl
RefSeq Acc Id: ENST00000546806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,681,740 - 144,738,891 (-)Ensembl
RefSeq Acc Id: ENST00000547966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,453,428 - 144,666,702 (-)Ensembl
RefSeq Acc Id: ENST00000548460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,835,131 - 144,835,999 (-)Ensembl
RefSeq Acc Id: ENST00000548831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,591,137 - 144,646,114 (-)Ensembl
RefSeq Acc Id: ENST00000551062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,531,110 - 144,666,718 (-)Ensembl
RefSeq Acc Id: ENST00000552881   ⟹   ENSP00000448655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,591,424 - 144,836,395 (-)Ensembl
RefSeq Acc Id: ENST00000639328   ⟹   ENSP00000491869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7144,530,871 - 144,836,053 (-)Ensembl
RefSeq Acc Id: NM_001042482   ⟹   NP_001035947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
GRCh377144,149,034 - 144,533,488 (-)NCBI
Build 367143,779,967 - 144,164,079 (-)NCBI Archive
HuRef7138,228,218 - 138,611,054 (-)ENTREZGENE
CHM1_17144,157,512 - 144,541,732 (-)NCBI
CRA_TCAGchr7v27143,487,292 - 143,871,298 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001350879   ⟹   NP_001337808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,835,940 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350880   ⟹   NP_001337809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,835,940 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350881   ⟹   NP_001337810
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350882   ⟹   NP_001337811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350883   ⟹   NP_001337812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350884   ⟹   NP_001337813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,738,898 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350885   ⟹   NP_001337814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350886   ⟹   NP_001337815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350887   ⟹   NP_001337816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350889   ⟹   NP_001337818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350893   ⟹   NP_001337822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350894   ⟹   NP_001337823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350895   ⟹   NP_001337824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022445   ⟹   NP_071890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
GRCh377144,149,034 - 144,533,488 (-)NCBI
Build 367143,779,967 - 144,164,079 (-)NCBI Archive
HuRef7138,228,218 - 138,611,054 (-)ENTREZGENE
CHM1_17144,157,512 - 144,541,732 (-)NCBI
CRA_TCAGchr7v27143,487,292 - 143,871,298 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_146934
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,053 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146935
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,835,940 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146936
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,738,898 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249970   ⟹   XP_005250027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,395 (-)NCBI
GRCh377144,149,034 - 144,533,488 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516031   ⟹   XP_011514333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516032   ⟹   XP_011514334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,835,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516033   ⟹   XP_011514335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,424 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516034   ⟹   XP_011514336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,322 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516035   ⟹   XP_011514337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,453,592 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516037   ⟹   XP_011514339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,739,180 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516039   ⟹   XP_011514341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,739,178 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516040   ⟹   XP_011514342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,544,785 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516043   ⟹   XP_011514345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516046   ⟹   XP_011514348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,606,933 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516047   ⟹   XP_011514349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,667,657 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516048   ⟹   XP_011514350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,659,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011969   ⟹   XP_016867458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,514,763 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011970   ⟹   XP_016867459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,765,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011971   ⟹   XP_016867460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,685,380 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011972   ⟹   XP_016867461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,514,763 - 144,836,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011974   ⟹   XP_016867463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,765,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011975   ⟹   XP_016867464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,685,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011980   ⟹   XP_016867469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,646,145 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011981   ⟹   XP_016867470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,643,720 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011982   ⟹   XP_016867471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,685,475 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446715   ⟹   XP_024302483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,765,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446716   ⟹   XP_024302484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,836,089 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446717   ⟹   XP_024302485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,451,941 - 144,834,961 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744630
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,548,515 - 144,836,054 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035947 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337808 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337809 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337810 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337811 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337812 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337813 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337814 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337815 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337816 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337822 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337824 (Get FASTA)   NCBI Sequence Viewer  
  NP_071890 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250027 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514333 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514334 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514335 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514336 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514337 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514339 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514341 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514342 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514345 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514348 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514349 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514350 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867458 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867459 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867460 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867461 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867463 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867464 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867469 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867470 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867471 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302483 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302484 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302485 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH40555 (Get FASTA)   NCBI Sequence Viewer  
  AAH68460 (Get FASTA)   NCBI Sequence Viewer  
  AAK01351 (Get FASTA)   NCBI Sequence Viewer  
  AAO38775 (Get FASTA)   NCBI Sequence Viewer  
  AAS00370 (Get FASTA)   NCBI Sequence Viewer  
  BAB15465 (Get FASTA)   NCBI Sequence Viewer  
  BAB20326 (Get FASTA)   NCBI Sequence Viewer  
  BAC87556 (Get FASTA)   NCBI Sequence Viewer  
  BAF82341 (Get FASTA)   NCBI Sequence Viewer  
  BAG52408 (Get FASTA)   NCBI Sequence Viewer  
  CAH18104 (Get FASTA)   NCBI Sequence Viewer  
  EAL24415 (Get FASTA)   NCBI Sequence Viewer  
  EAW80091 (Get FASTA)   NCBI Sequence Viewer  
  EAW80092 (Get FASTA)   NCBI Sequence Viewer  
  Q9H3S4 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001035947   ⟸   NM_001042482
- Peptide Label: isoform b
- UniProtKB: Q9H3S4 (UniProtKB/Swiss-Prot),   F5GZG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071890   ⟸   NM_022445
- Peptide Label: isoform a
- UniProtKB: Q9H3S4 (UniProtKB/Swiss-Prot),   A0A090N8Y0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250027   ⟸   XM_005249970
- Peptide Label: isoform X6
- UniProtKB: Q9H3S4 (UniProtKB/Swiss-Prot),   A0A090N8Y0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514335   ⟸   XM_011516033
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011514336   ⟸   XM_011516034
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011514345   ⟸   XM_011516043
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011514333   ⟸   XM_011516031
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011514334   ⟸   XM_011516032
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011514339   ⟸   XM_011516037
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011514341   ⟸   XM_011516039
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011514349   ⟸   XM_011516047
- Peptide Label: isoform X13
- UniProtKB: Q9H3S4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011514350   ⟸   XM_011516048
- Peptide Label: isoform X13
- UniProtKB: Q9H3S4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011514337   ⟸   XM_011516035
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011514342   ⟸   XM_011516040
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011514348   ⟸   XM_011516046
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016867459   ⟸   XM_017011970
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016867463   ⟸   XM_017011974
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016867471   ⟸   XM_017011982
- Peptide Label: isoform X13
- UniProtKB: Q9H3S4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867464   ⟸   XM_017011975
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016867460   ⟸   XM_017011971
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016867469   ⟸   XM_017011980
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016867470   ⟸   XM_017011981
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016867461   ⟸   XM_017011972
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016867458   ⟸   XM_017011969
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024302484   ⟸   XM_024446716
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: NP_001337818   ⟸   NM_001350889
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337814   ⟸   NM_001350885
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337816   ⟸   NM_001350887
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337815   ⟸   NM_001350886
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337812   ⟸   NM_001350883
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001337822   ⟸   NM_001350893
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337823   ⟸   NM_001350894
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001337810   ⟸   NM_001350881
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001337824   ⟸   NM_001350895
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001337811   ⟸   NM_001350882
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001337809   ⟸   NM_001350880
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001337808   ⟸   NM_001350879
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: XP_024302485   ⟸   XM_024446717
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_024302483   ⟸   XM_024446715
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: NP_001337813   ⟸   NM_001350884
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: ENSP00000353165   ⟸   ENST00000360057
RefSeq Acc Id: ENSP00000491869   ⟸   ENST00000639328
RefSeq Acc Id: ENSP00000367339   ⟸   ENST00000378099
RefSeq Acc Id: ENSP00000367338   ⟸   ENST00000378098
RefSeq Acc Id: ENSP00000449909   ⟸   ENST00000482940
RefSeq Acc Id: ENSP00000438813   ⟸   ENST00000538212
RefSeq Acc Id: ENSP00000448655   ⟸   ENST00000552881
RefSeq Acc Id: ENSP00000450028   ⟸   ENST00000489798
Protein Domains
TPK_B1_binding

Promoters
RGD ID:6806316
Promoter ID:HG_KWN:60160
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378098,   ENST00000378099,   NM_001042482,   NM_022445,   UC003WES.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367144,163,831 - 144,164,331 (-)MPROMDB
RGD ID:7212195
Promoter ID:EPDNEW_H11844
Type:multiple initiation site
Name:TPK1_3
Description:thiamin pyrophosphokinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11845  EPDNEW_H11846  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,738,898 - 144,738,958EPDNEW
RGD ID:7212197
Promoter ID:EPDNEW_H11845
Type:initiation region
Name:TPK1_1
Description:thiamin pyrophosphokinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11844  EPDNEW_H11846  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,836,053 - 144,836,113EPDNEW
RGD ID:7212199
Promoter ID:EPDNEW_H11846
Type:initiation region
Name:TPK1_2
Description:thiamin pyrophosphokinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11844  EPDNEW_H11845  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,836,373 - 144,836,433EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001581941] Chr7:144623063 [GRCh38]
Chr7:144320156 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.148A>C (p.Asn50His) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000023531] Chr7:144682946 [GRCh38]
Chr7:144380039 [GRCh37]
Chr7:7q35
pathogenic
NG_032112.2:g.249635A>T single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000023532] Chr7:7q34 pathogenic
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro) single nucleotide variant Inborn genetic diseases [RCV000622727]|Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000023533] Chr7:144682975 [GRCh38]
Chr7:144380068 [GRCh37]
Chr7:7q35
pathogenic|uncertain significance
TPK1, 4-BP DEL, 179GAGA deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000023534] Chr7:7q34 pathogenic
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000023535]|not provided [RCV000437841] Chr7:144453621 [GRCh38]
Chr7:144150714 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.677T>A (p.Val226Asp) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000560878] Chr7:144453600 [GRCh38]
Chr7:144150693 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.510C>G (p.His170Gln) single nucleotide variant not provided [RCV000523008] Chr7:144548594 [GRCh38]
Chr7:144245687 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.667G>T (p.Gly223Trp) single nucleotide variant not provided [RCV000521188] Chr7:144453610 [GRCh38]
Chr7:144150703 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.3(TPK1):c.613+37464A>G single nucleotide variant Lung cancer [RCV000105704] Chr7:144511027 [GRCh38]
Chr7:144208120 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.3(TPK1):c.116-18825T>C single nucleotide variant Lung cancer [RCV000105705] Chr7:144701803 [GRCh38]
Chr7:144398896 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.3(TPK1):c.115+12353G>T single nucleotide variant Lung cancer [RCV000105706] Chr7:144753527 [GRCh38]
Chr7:144450620 [GRCh37]
Chr7:7q35
uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_022445.4(TPK1):c.663C>T (p.Tyr221=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001079155]|not provided [RCV000550487]|not specified [RCV000125577] Chr7:144453614 [GRCh38]
Chr7:144150707 [GRCh37]
Chr7:7q35
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022445.4(TPK1):c.98G>A (p.Arg33His) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001080813]|not provided [RCV000422140]|not specified [RCV000125578] Chr7:144765897 [GRCh38]
Chr7:144462990 [GRCh37]
Chr7:7q35
benign|likely benign
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
NM_022445.4(TPK1):c.22T>A (p.Leu8Met) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001348073] Chr7:144835581 [GRCh38]
Chr7:144532674 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.92A>G (p.Tyr31Cys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001302475] Chr7:144765903 [GRCh38]
Chr7:144462996 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.53A>G (p.Lys18Arg) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001303369] Chr7:144765942 [GRCh38]
Chr7:144463035 [GRCh37]
Chr7:7q35
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4 copy number gain See cases [RCV000138555] Chr7:143596735..150089125 [GRCh38]
Chr7:143293828..149786214 [GRCh37]
Chr7:143003950..149417147 [NCBI36]
Chr7:7q35-36.1
likely pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
NM_022445.4(TPK1):c.426G>C (p.Leu142Phe) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000815721]|not provided [RCV000255057] Chr7:144591498 [GRCh38]
Chr7:144288591 [GRCh37]
Chr7:7q35
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022445.4(TPK1):c.185+1G>A single nucleotide variant not provided [RCV000197327] Chr7:144682908 [GRCh38]
Chr7:144380001 [GRCh37]
Chr7:7q35
pathogenic|likely pathogenic
NM_022445.4(TPK1):c.311del (p.Cys104fs) deletion not provided [RCV000197530] Chr7:144623209 [GRCh38]
Chr7:144320302 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.-36T>C single nucleotide variant not specified [RCV000195450] Chr7:144835986 [GRCh38]
Chr7:144533079 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.366C>T (p.Ile122=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000535730]|not specified [RCV000199005] Chr7:144591558 [GRCh38]
Chr7:144288651 [GRCh37]
Chr7:7q35
benign|likely benign
NM_022445.4(TPK1):c.44-2A>G single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000791491]|not provided [RCV000195651] Chr7:144765953 [GRCh38]
Chr7:144463046 [GRCh37]
Chr7:7q35
pathogenic|likely pathogenic|uncertain significance
NM_022445.4(TPK1):c.501+4A>T single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000578364]|not provided [RCV000199215] Chr7:144591419 [GRCh38]
Chr7:144288512 [GRCh37]
Chr7:7q35
pathogenic|likely pathogenic
NM_022445.4(TPK1):c.151C>A (p.Arg51Ser) single nucleotide variant not provided [RCV000381760] Chr7:144682943 [GRCh38]
Chr7:144380036 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.127G>A (p.Ala43Thr) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000806312] Chr7:144682967 [GRCh38]
Chr7:144380060 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_022445.4(TPK1):c.621T>C (p.Asp207=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001469106]|not specified [RCV000434307] Chr7:144453656 [GRCh38]
Chr7:144150749 [GRCh37]
Chr7:7q35
likely benign
NC_000007.13:g.144520633_145949971del deletion Pitt-Hopkins-like syndrome 1 [RCV000505265] Chr7:144520633..145949971 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.355-4T>G single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000821831]|not provided [RCV001698252] Chr7:144591573 [GRCh38]
Chr7:144288666 [GRCh37]
Chr7:7q35
likely benign|uncertain significance
GRCh37/hg19 7q35(chr7:144499851-145957757)x1 copy number loss See cases [RCV000448896] Chr7:144499851..145957757 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormality of esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q35(chr7:144274662-144330956)x1 copy number loss See cases [RCV000448345] Chr7:144274662..144330956 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_022445.4(TPK1):c.614-13del deletion not provided [RCV001721555] Chr7:144453676 [GRCh38]
Chr7:144150769 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.-22dup duplication not specified [RCV000477972] Chr7:144835971..144835972 [GRCh38]
Chr7:144533064..144533065 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.664G>C (p.Asp222His) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001078175]|not provided [RCV000479810] Chr7:144453613 [GRCh38]
Chr7:144150706 [GRCh37]
Chr7:7q35
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000578305] Chr7:144548528 [GRCh38]
Chr7:144245621 [GRCh37]
Chr7:7q35
likely pathogenic
NM_022445.4(TPK1):c.154T>C (p.Leu52=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000559885] Chr7:144682940 [GRCh38]
Chr7:144380033 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.425T>C (p.Leu142Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000650011] Chr7:144591499 [GRCh38]
Chr7:144288592 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.151C>T (p.Arg51Cys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000650012] Chr7:144682943 [GRCh38]
Chr7:144380036 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.174A>T (p.Gly58=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000650013] Chr7:144682920 [GRCh38]
Chr7:144380013 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.489C>T (p.Tyr163=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000650014] Chr7:144591435 [GRCh38]
Chr7:144288528 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.135C>T (p.Ala45=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000898949]|not specified [RCV000616584] Chr7:144682959 [GRCh38]
Chr7:144380052 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.666C>T (p.Asp222=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001491147]|not specified [RCV000608341] Chr7:144453611 [GRCh38]
Chr7:144150704 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.395T>C (p.Phe132Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000656122] Chr7:144591529 [GRCh38]
Chr7:144288622 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.614-1G>A single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000656123] Chr7:144453664 [GRCh38]
Chr7:144150757 [GRCh37]
Chr7:7q35
pathogenic
GRCh37/hg19 7q35(chr7:144430496-144922850)x3 copy number gain not provided [RCV000682849] Chr7:144430496..144922850 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_022445.4(TPK1):c.559C>T (p.Pro187Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000693139] Chr7:144548545 [GRCh38]
Chr7:144245638 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.337G>A (p.Glu113Lys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000699724] Chr7:144623183 [GRCh38]
Chr7:144320276 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144623146)_(144682998_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000708193] Chr7:144623146..144682998 [GRCh38]
Chr7:144320239..144380091 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001680137] Chr7:144648640 [GRCh38]
Chr7:144345733 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.44-9T>C single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000977137] Chr7:144765960 [GRCh38]
Chr7:144463053 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.354+48T>A single nucleotide variant not provided [RCV001576534] Chr7:144623118 [GRCh38]
Chr7:144320211 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001066752] Chr7:144591445 [GRCh38]
Chr7:144288538 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.642G>A (p.Leu214=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001395316]|not provided [RCV000946056] Chr7:144453635 [GRCh38]
Chr7:144150728 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.528T>C (p.Thr176=) single nucleotide variant not provided [RCV000926789] Chr7:144548576 [GRCh38]
Chr7:144245669 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.435G>A (p.Ala145=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000936335] Chr7:144591489 [GRCh38]
Chr7:144288582 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.624G>A (p.Val208=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000921478] Chr7:144453653 [GRCh38]
Chr7:144150746 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.231T>A (p.Pro77=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000960434]|not provided [RCV001556228] Chr7:144648834 [GRCh38]
Chr7:144345927 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.566G>A (p.Gly189Glu) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001036676] Chr7:144548538 [GRCh38]
Chr7:144245631 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144453525)_(144548622_?)dup duplication Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001032970] Chr7:144150618..144245715 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.14:g.(?_144453525)_(144453683_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001032577] Chr7:144150618..144150776 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144453525)_(144835622_?)dup duplication Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001032389] Chr7:144150618..144532715 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.687G>A (p.Val229=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001060416] Chr7:144453590 [GRCh38]
Chr7:144150683 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_022445.4(TPK1):c.613+1G>C single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000793670] Chr7:144548490 [GRCh38]
Chr7:144245583 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.414T>C (p.Ser138=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000922266] Chr7:144591510 [GRCh38]
Chr7:144288603 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.87C>T (p.Asp29=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001435498]|not provided [RCV000930923] Chr7:144765908 [GRCh38]
Chr7:144463001 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.435G>T (p.Ala145=) single nucleotide variant not provided [RCV000931915] Chr7:144591489 [GRCh38]
Chr7:144288582 [GRCh37]
Chr7:7q35
likely benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_022445.4(TPK1):c.168C>T (p.Thr56=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000937729] Chr7:144682926 [GRCh38]
Chr7:144380019 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.354+45C>A single nucleotide variant not provided [RCV000832980] Chr7:144623121 [GRCh38]
Chr7:144320214 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.614-82C>G single nucleotide variant not provided [RCV000832981] Chr7:144453745 [GRCh38]
Chr7:144150838 [GRCh37]
Chr7:7q35
benign
NC_000007.13:g.(?_144462953)_(144463064_?)dup duplication Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000812679] Chr7:144765860..144765971 [GRCh38]
Chr7:144462953..144463064 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000817034] Chr7:144591433 [GRCh38]
Chr7:144288526 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144682889)_(144682998_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000823951] Chr7:144682889..144682998 [GRCh38]
Chr7:144379982..144380091 [GRCh37]
Chr7:7q35
pathogenic
GRCh37/hg19 7q35(chr7:144319985-144446894)x1 copy number loss not provided [RCV000849754] Chr7:144319985..144446894 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.614-240A>C single nucleotide variant not provided [RCV000833015] Chr7:144453903 [GRCh38]
Chr7:144150996 [GRCh37]
Chr7:7q35
benign
NC_000007.14:g.(?_144591403)_(144591589_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000805910] Chr7:144591403..144591589 [GRCh38]
Chr7:144288496..144288682 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.92A>C (p.Tyr31Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000801466] Chr7:144765903 [GRCh38]
Chr7:144462996 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.43+130C>T single nucleotide variant not provided [RCV000836301] Chr7:144835430 [GRCh38]
Chr7:144532523 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.371C>T (p.Thr124Ile) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000821869] Chr7:144591553 [GRCh38]
Chr7:144288646 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.185+77G>A single nucleotide variant not provided [RCV000830901] Chr7:144682832 [GRCh38]
Chr7:144379925 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.152G>A (p.Arg51His) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000813012] Chr7:144682942 [GRCh38]
Chr7:144380035 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.335T>C (p.Ile112Thr) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000815817] Chr7:144623185 [GRCh38]
Chr7:144320278 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.664G>A (p.Asp222Asn) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000813732] Chr7:144453613 [GRCh38]
Chr7:144150706 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.392G>A (p.Arg131His) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000792700] Chr7:144591532 [GRCh38]
Chr7:144288625 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.530G>T (p.Gly177Val) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV000814154] Chr7:144548574 [GRCh38]
Chr7:144245667 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144682889)_(144765971_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001032602] Chr7:144379982..144463064 [GRCh37]
Chr7:7q35
pathogenic
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q35(chr7:144272015-144331634)x1 copy number loss not provided [RCV000847972] Chr7:144272015..144331634 [GRCh37]
Chr7:7q35
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q35(chr7:143572320-144474990)x3 copy number gain not provided [RCV000848430] Chr7:143572320..144474990 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q35(chr7:144274734-144331634)x1 copy number loss not provided [RCV000846917] Chr7:144274734..144331634 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.518dup (p.His173fs) duplication not provided [RCV001008975] Chr7:144548585..144548586 [GRCh38]
Chr7:144245678..144245679 [GRCh37]
Chr7:7q35
likely pathogenic
NM_022445.4(TPK1):c.501+96C>T single nucleotide variant not provided [RCV001564221] Chr7:144591327 [GRCh38]
Chr7:144288420 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.223A>G (p.Ile75Val) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001227200] Chr7:144648842 [GRCh38]
Chr7:144345935 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.239G>A (p.Arg80Lys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001212059] Chr7:144648826 [GRCh38]
Chr7:144345919 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.19C>T (p.Pro7Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001249202] Chr7:144835584 [GRCh38]
Chr7:144532677 [GRCh37]
Chr7:7q35
likely pathogenic
NM_022445.4(TPK1):c.405del (p.Met136fs) deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001215126] Chr7:144591519 [GRCh38]
Chr7:144288612 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.17C>T (p.Thr6Ile) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001219257] Chr7:144835586 [GRCh38]
Chr7:144532679 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q35(chr7:144318728-144425718)x1 copy number loss not provided [RCV000847440] Chr7:144318728..144425718 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.535G>C (p.Glu179Gln) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001212257] Chr7:144548569 [GRCh38]
Chr7:144245662 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001249203] Chr7:144591542 [GRCh38]
Chr7:144288635 [GRCh37]
Chr7:7q35
likely pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
NM_022445.4(TPK1):c.116-49T>C single nucleotide variant not provided [RCV001551090] Chr7:144683027 [GRCh38]
Chr7:144380120 [GRCh37]
Chr7:7q35
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del duplication not provided [RCV001715701] Chr7:144835736..144835737 [GRCh38]
Chr7:144532829..144532830 [GRCh37]
Chr7:7q35
benign
null deletion not provided [RCV001693116] Chr7:144548451 [GRCh38]
Chr7:144245544 [GRCh37]
Chr7:7q35
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677249] Chr7:144765858 [GRCh38]
Chr7:144462951 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.43+41C>T single nucleotide variant not provided [RCV001540310] Chr7:144835519 [GRCh38]
Chr7:144532612 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.672T>C (p.Ser224=) single nucleotide variant not provided [RCV000906491] Chr7:144453605 [GRCh38]
Chr7:144150698 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.351A>G (p.Leu117=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001435459]|not provided [RCV000932203] Chr7:144623169 [GRCh38]
Chr7:144320262 [GRCh37]
Chr7:7q35
likely benign
null single nucleotide variant not provided [RCV001665340] Chr7:144682951 [GRCh38]
Chr7:144380044 [GRCh37]
Chr7:7q35
likely pathogenic
NM_022445.4(TPK1):c.138T>C (p.Asp46=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001426958]|not provided [RCV000890623] Chr7:144682956 [GRCh38]
Chr7:144380049 [GRCh37]
Chr7:7q35
likely benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) insertion not provided [RCV001676677] Chr7:144548427..144548428 [GRCh38]
Chr7:144245520..144245521 [GRCh37]
Chr7:7q35
benign
null single nucleotide variant not provided [RCV001675381] Chr7:144548183 [GRCh38]
Chr7:144245276 [GRCh37]
Chr7:7q35
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677437] Chr7:144766152 [GRCh38]
Chr7:144463245 [GRCh37]
Chr7:7q35
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001718047] Chr7:144835505 [GRCh38]
Chr7:144532598 [GRCh37]
Chr7:7q35
benign
NC_000007.14:g.(?_144453525)_(144453683_?)dup duplication Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001031256] Chr7:144150618..144150776 [GRCh37]
Chr7:7q35
uncertain significance
null deletion not provided [RCV001667949] Chr7:144548451..144548452 [GRCh38]
Chr7:144245544..144245545 [GRCh37]
Chr7:7q35
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001651983] Chr7:144648519 [GRCh38]
Chr7:144345612 [GRCh37]
Chr7:7q35
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001680259] Chr7:144683186..144683187 [GRCh38]
Chr7:144380279..144380280 [GRCh37]
Chr7:7q35
benign
null single nucleotide variant not provided [RCV001611256] Chr7:144623349 [GRCh38]
Chr7:144320442 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.701C>A (p.Pro234Gln) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001047974] Chr7:144453576 [GRCh38]
Chr7:144150669 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144591403)_(144835622_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001033575] Chr7:144288496..144532715 [GRCh37]
Chr7:7q35
pathogenic
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3
not provided
NM_022445.4(TPK1):c.532A>T (p.Met178Leu) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001060240] Chr7:144548572 [GRCh38]
Chr7:144245665 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.14:g.(?_144765860)_(144765971_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001032707] Chr7:144462953..144463064 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.246C>A (p.Tyr82Ter) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001236931]|not provided [RCV001572409] Chr7:144648819 [GRCh38]
Chr7:144345912 [GRCh37]
Chr7:7q35
pathogenic|likely pathogenic
NM_022445.4(TPK1):c.365T>C (p.Ile122Thr) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001057316] Chr7:144591559 [GRCh38]
Chr7:144288652 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.97C>T (p.Arg33Cys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001058038] Chr7:144765898 [GRCh38]
Chr7:144462991 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.230C>T (p.Pro77Leu) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001054908] Chr7:144648835 [GRCh38]
Chr7:144345928 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.164T>C (p.Ile55Thr) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001219481] Chr7:144682930 [GRCh38]
Chr7:144380023 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.700C>T (p.Pro234Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001040646] Chr7:144453577 [GRCh38]
Chr7:144150670 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.482T>A (p.Leu161Gln) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001212697] Chr7:144591442 [GRCh38]
Chr7:144288535 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.10G>A (p.Ala4Thr) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001056275] Chr7:144835593 [GRCh38]
Chr7:144532686 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.434C>T (p.Ala145Val) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001070168] Chr7:144591490 [GRCh38]
Chr7:144288583 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q35(chr7:144204964-144617768)x1 copy number loss not provided [RCV001258977] Chr7:144204964..144617768 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q35(chr7:144432919-145084588)x1 copy number loss not provided [RCV001258979] Chr7:144432919..145084588 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.13:g.(?_144150618)_(144245715_?)dup duplication Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001301193] Chr7:144150618..144245715 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.704T>C (p.Leu235Pro) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001308261] Chr7:144453573 [GRCh38]
Chr7:144150666 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.13:g.(?_144150638)_(144532695_?)dup duplication Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001325533] Chr7:144150638..144532695 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.13:g.(?_144320239)_(144380091_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001296588] Chr7:144320239..144380091 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.442A>G (p.Ile148Val) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001316306] Chr7:144591482 [GRCh38]
Chr7:144288575 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.667G>A (p.Gly223Arg) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001296126] Chr7:144453610 [GRCh38]
Chr7:144150703 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.258+7T>A single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001414835] Chr7:144648800 [GRCh38]
Chr7:144345893 [GRCh37]
Chr7:7q35
likely benign
NC_000007.13:g.(?_144462953)_(144463064_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001296587] Chr7:144462953..144463064 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.13:g.(?_144245564)_(144245715_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001339700] Chr7:144245564..144245715 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.305C>G (p.Thr102Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001321856] Chr7:144623215 [GRCh38]
Chr7:144320308 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.56A>G (p.Tyr19Cys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001344915] Chr7:144765939 [GRCh38]
Chr7:144463032 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.13:g.(?_144288496)_(144288682_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001325532] Chr7:144288496..144288682 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.662ACG[3] (p.Asp222dup) microsatellite Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001309781] Chr7:144453609..144453610 [GRCh38]
Chr7:144150702..144150703 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.546G>C (p.Trp182Cys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001373909] Chr7:144548558 [GRCh38]
Chr7:144245651 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.512G>C (p.Arg171Thr) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001338267] Chr7:144548592 [GRCh38]
Chr7:144245685 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.10G>T (p.Ala4Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001327892] Chr7:144835593 [GRCh38]
Chr7:144532686 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.160_162del (p.Asp54del) deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001341394] Chr7:144682932..144682934 [GRCh38]
Chr7:144380025..144380027 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.44-3T>C single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001323619] Chr7:144765954 [GRCh38]
Chr7:144463047 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.662A>G (p.Tyr221Cys) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001326926] Chr7:144453615 [GRCh38]
Chr7:144150708 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.669G>A (p.Gly223=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001396269] Chr7:144453608 [GRCh38]
Chr7:144150701 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.206A>G (p.Asn69Ser) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001307101] Chr7:144648859 [GRCh38]
Chr7:144345952 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001354051] Chr7:144453657 [GRCh38]
Chr7:144150750 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.43+6G>T single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001365413] Chr7:144835554 [GRCh38]
Chr7:144532647 [GRCh37]
Chr7:7q35
uncertain significance
NM_022445.4(TPK1):c.116-8A>G single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001472510] Chr7:144682986 [GRCh38]
Chr7:144380079 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.639A>G (p.Thr213=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001501260] Chr7:144453638 [GRCh38]
Chr7:144150731 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.486C>T (p.Ile162=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001416735] Chr7:144591438 [GRCh38]
Chr7:144288531 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.-17+111C>T single nucleotide variant not provided [RCV001539342] Chr7:144835856 [GRCh38]
Chr7:144532949 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.270C>T (p.Leu90=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001437197] Chr7:144623250 [GRCh38]
Chr7:144320343 [GRCh37]
Chr7:7q35
likely benign
NC_000007.13:g.(?_144245564)_(144532715_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001386268] Chr7:144245564..144532715 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.243del (p.Glu81fs) deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001389581] Chr7:144648822 [GRCh38]
Chr7:144345915 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.669G>C (p.Gly223=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001446766] Chr7:144453608 [GRCh38]
Chr7:144150701 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.355-4T>C single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001393247] Chr7:144591573 [GRCh38]
Chr7:144288666 [GRCh37]
Chr7:7q35
likely benign
NC_000007.13:g.(?_144150618)_(144532715_?)del deletion Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001386267] Chr7:144150618..144532715 [GRCh37]
Chr7:7q35
pathogenic
NM_022445.4(TPK1):c.465A>C (p.Ile155=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001448105] Chr7:144591459 [GRCh38]
Chr7:144288552 [GRCh37]
Chr7:7q35
likely benign
null single nucleotide variant not provided [RCV001673320] Chr7:144766076 [GRCh38]
Chr7:144463169 [GRCh37]
Chr7:7q35
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) duplication not provided [RCV001592659] Chr7:144683185..144683186 [GRCh38]
Chr7:144380278..144380279 [GRCh37]
Chr7:7q35
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001651539] Chr7:144835625..144835626 [GRCh38]
Chr7:144532718..144532719 [GRCh37]
Chr7:7q35
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001682500] Chr7:144548227 [GRCh38]
Chr7:144245320 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.121T>C (p.Leu41=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001462680] Chr7:144682973 [GRCh38]
Chr7:144380066 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.44-4C>T single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001462733] Chr7:144765955 [GRCh38]
Chr7:144463048 [GRCh37]
Chr7:7q35
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715139] Chr7:144765675 [GRCh38]
Chr7:144462768 [GRCh37]
Chr7:7q35
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001715269] Chr7:144683186 [GRCh38]
Chr7:144380279 [GRCh37]
Chr7:7q35
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001716665] Chr7:144835626 [GRCh38]
Chr7:144532719 [GRCh37]
Chr7:7q35
benign
null single nucleotide variant not provided [RCV001674342] Chr7:144836196 [GRCh38]
Chr7:144533289 [GRCh37]
Chr7:7q35
benign
NM_022445.4(TPK1):c.116-2A>G single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001379847] Chr7:144682980 [GRCh38]
Chr7:144380073 [GRCh37]
Chr7:7q35
likely pathogenic
NM_022445.4(TPK1):c.355-7T>C single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001468999] Chr7:144591576 [GRCh38]
Chr7:144288669 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.354+9T>C single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001460737] Chr7:144623157 [GRCh38]
Chr7:144320250 [GRCh37]
Chr7:7q35
likely benign
NM_022445.4(TPK1):c.555T>C (p.Leu185=) single nucleotide variant Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [RCV001419170] Chr7:144548549 [GRCh38]
Chr7:144245642 [GRCh37]
Chr7:7q35
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17358 AgrOrtholog
COSMIC TPK1 COSMIC
Ensembl Genes ENSG00000196511 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367338 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000367339 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000438813 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000448655 UniProtKB/TrEMBL
  ENSP00000449909 UniProtKB/TrEMBL
  ENSP00000450028 UniProtKB/TrEMBL
  ENSP00000491869 UniProtKB/TrEMBL
Ensembl Transcript ENST00000360057 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378098 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000378099 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000482940 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000489798 UniProtKB/TrEMBL
  ENST00000538212 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000552881 UniProtKB/TrEMBL
  ENST00000639328 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196511 GTEx
HGNC ID HGNC:17358 ENTREZGENE
Human Proteome Map TPK1 Human Proteome Map
InterPro Thi_PPkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiamin_pyrophosphokinase_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiamin_PyroPKinase_B1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPK_B1-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPK_catalytic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPK_catalytic_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27010 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27010 ENTREZGENE
OMIM 606370 OMIM
  614458 OMIM
Pfam TPK_B1_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPK_catalytic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38235 PharmGKB
PIRSF Thiamin_pyrophosphokinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPK_B1_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63862 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63999 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs thi_PPkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N8Y0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQB3_HUMAN UniProtKB/TrEMBL
  F5GZG6 ENTREZGENE, UniProtKB/TrEMBL
  F8VPB3_HUMAN UniProtKB/TrEMBL
  F8VRJ6_HUMAN UniProtKB/TrEMBL
  F8VVJ1_HUMAN UniProtKB/TrEMBL
  F8WCM7_HUMAN UniProtKB/TrEMBL
  L8E8Q3_HUMAN UniProtKB/TrEMBL
  Q6ZQX6_HUMAN UniProtKB/TrEMBL
  Q75MX1_HUMAN UniProtKB/TrEMBL
  Q9H3S4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K0T7 UniProtKB/Swiss-Prot
  D3DWG0 UniProtKB/Swiss-Prot
  I6L9B8 UniProtKB/Swiss-Prot
  Q6NUR5 UniProtKB/Swiss-Prot
  Q9H602 UniProtKB/Swiss-Prot