MEAK7 (MTOR associated protein, eak-7 homolog) - Rat Genome Database

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Gene: MEAK7 (MTOR associated protein, eak-7 homolog) Homo sapiens
Analyze
Symbol: MEAK7
Name: MTOR associated protein, eak-7 homolog
RGD ID: 1605650
HGNC Page HGNC
Description: Involved in several processes, including TOR signaling; positive regulation of protein localization to lysosome; and response to insulin. Located in cytosol; lysosomal membrane; and nuclear lumen; INTERACTS WITH 2-hydroxypropanoic acid; arsenous acid; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: EAK7; hypothetical protein LOC57707; KIAA1609; mammalian EAK-7; mEAK-7; MGC25024; MTOR-associated protein MEAK7; TBC/LysM-associated domain containing 1; TBC/LysM-associated domain-containing protein 1; TLD domain containing 1; TLD domain-containing protein 1; TLD domain-containing protein KIAA1609; TLDC1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1684,476,355 - 84,554,033 (-)EnsemblGRCh38hg38GRCh38
GRCh381684,476,355 - 84,504,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371684,509,961 - 84,538,265 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361683,068,608 - 83,095,794 (-)NCBINCBI36hg18NCBI36
Celera1668,812,050 - 68,840,421 (-)NCBI
Cytogenetic Map16q24.1NCBI
HuRef1670,262,699 - 70,291,067 (-)NCBIHuRef
CHM1_11685,921,538 - 85,949,838 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA)
lysosomal membrane  (HDA,IDA)
membrane  (IDA)
nucleolus  (IDA)
nucleoplasm  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:8889549   PMID:10997877   PMID:12477932   PMID:14702039   PMID:16189514   PMID:16712791   PMID:17897319   PMID:19060904   PMID:21873635   PMID:22939629   PMID:24223779  
PMID:25693804   PMID:26186194   PMID:26344197   PMID:26668325   PMID:27432908   PMID:28514442   PMID:29117863   PMID:29750193   PMID:30194290   PMID:30561431   PMID:30639242   PMID:31515488  
PMID:32994395   PMID:33845483   PMID:34079125  


Genomics

Comparative Map Data
MEAK7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1684,476,355 - 84,554,033 (-)EnsemblGRCh38hg38GRCh38
GRCh381684,476,355 - 84,504,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371684,509,961 - 84,538,265 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361683,068,608 - 83,095,794 (-)NCBINCBI36hg18NCBI36
Celera1668,812,050 - 68,840,421 (-)NCBI
Cytogenetic Map16q24.1NCBI
HuRef1670,262,699 - 70,291,067 (-)NCBIHuRef
CHM1_11685,921,538 - 85,949,838 (-)NCBICHM1_1
Meak7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,486,802 - 120,505,173 (-)NCBIGRCm39mm39
GRCm39 Ensembl8120,486,815 - 120,505,155 (-)Ensembl
GRCm388119,760,063 - 119,778,439 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8119,760,076 - 119,778,416 (-)EnsemblGRCm38mm10GRCm38
MGSCv378122,284,487 - 122,302,316 (-)NCBIGRCm37mm9NCBIm37
MGSCv368122,646,564 - 122,664,393 (-)NCBImm8
Celera8123,976,804 - 123,994,606 (-)NCBICelera
Cytogenetic Map8E1NCBI
Meak7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21947,813,899 - 47,836,830 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1947,811,416 - 47,841,278 (-)Ensembl
Rnor_6.01952,408,700 - 52,430,198 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1952,408,917 - 52,424,318 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01963,149,967 - 63,174,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41949,959,688 - 50,055,661 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11949,950,948 - 50,065,567 (-)NCBI
Celera1947,071,440 - 47,094,134 (-)NCBICelera
Cytogenetic Map19q12NCBI
Meak7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955541101,275 - 115,079 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495554199,319 - 114,122 (-)NCBIChiLan1.0ChiLan1.0
MEAK7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11684,482,997 - 84,509,530 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1684,482,997 - 84,509,530 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01665,141,319 - 65,167,898 (-)NCBIMhudiblu_PPA_v0panPan3
MEAK7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1567,958,596 - 67,976,945 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl567,962,242 - 67,975,264 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha567,973,302 - 67,991,776 (+)NCBI
ROS_Cfam_1.0568,192,142 - 68,210,560 (+)NCBI
UMICH_Zoey_3.1568,205,086 - 68,221,906 (+)NCBI
UNSW_CanFamBas_1.0568,041,325 - 68,059,794 (+)NCBI
UU_Cfam_GSD_1.0568,456,742 - 68,475,145 (+)NCBI
Meak7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934927,733,273 - 27,748,562 (+)NCBI
SpeTri2.0NW_0049366413,490,531 - 3,498,615 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MEAK7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl64,204,078 - 4,228,590 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.164,169,840 - 4,226,798 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.264,628,177 - 4,650,999 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MEAK7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1569,873,518 - 69,903,097 (-)NCBI
Vero_WHO_p1.0NW_0236660475,851,277 - 5,880,664 (+)NCBI
Meak7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247461,449,741 - 1,469,116 (-)NCBI

Position Markers
SHGC-83748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,511,270 - 84,511,563UniSTSGRCh37
Build 361683,068,771 - 83,069,064RGDNCBI36
Celera1668,813,354 - 68,813,647RGD
Cytogenetic Map16q24.1UniSTS
HuRef1670,264,003 - 70,264,296UniSTS
D2S2888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,511,747 - 84,511,882UniSTSGRCh37
Build 361683,069,248 - 83,069,383RGDNCBI36
Celera1668,813,831 - 68,813,966RGD
Cytogenetic Map16q24.1UniSTS
HuRef1670,264,481 - 70,264,616UniSTS
Stanford-G3 RH Map163224.0UniSTS
NCBI RH Map16654.7UniSTS
GeneMap99-G3 RH Map163668.0UniSTS
STS-AA029429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,510,082 - 84,510,307UniSTSGRCh37
Build 361683,067,583 - 83,067,808RGDNCBI36
Celera1668,812,166 - 68,812,391RGD
Cytogenetic Map16q24.1UniSTS
HuRef1670,262,815 - 70,263,040UniSTS
GeneMap99-GB4 RH Map16464.09UniSTS
D15S1390  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map7p13UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
D11S3745  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map19p13.11UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3350
Count of miRNA genes:1129
Interacting mature miRNAs:1399
Transcripts:ENST00000343629, ENST00000535580, ENST00000561807, ENST00000562447, ENST00000565079, ENST00000565701, ENST00000565765, ENST00000566995, ENST00000567321, ENST00000570036
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 82 3 36 26 29 19 197 22 76 127 323 202 20 12 5
Low 2357 2789 1626 536 1748 384 4148 2138 3636 292 1137 1411 155 1 1204 2765 1 2
Below cutoff 199 64 62 174 62 11 37 22 11

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_020947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA115393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB046829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV718305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG748167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI767086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM674034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM676714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM715013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM715579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM922004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ009692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU955954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB160601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343629   ⟹   ENSP00000343635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,476,355 - 84,504,659 (-)Ensembl
RefSeq Acc Id: ENST00000561807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,489,352 - 84,504,656 (-)Ensembl
RefSeq Acc Id: ENST00000562447   ⟹   ENSP00000457115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,495,818 - 84,504,621 (-)Ensembl
RefSeq Acc Id: ENST00000565079   ⟹   ENSP00000457557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,489,363 - 84,554,033 (-)Ensembl
RefSeq Acc Id: ENST00000565701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,497,704 - 84,504,629 (-)Ensembl
RefSeq Acc Id: ENST00000565765   ⟹   ENSP00000455557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,497,951 - 84,504,659 (-)Ensembl
RefSeq Acc Id: ENST00000566995   ⟹   ENSP00000454265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,479,697 - 84,504,647 (-)Ensembl
RefSeq Acc Id: ENST00000567321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,486,004 - 84,488,436 (-)Ensembl
RefSeq Acc Id: ENST00000570036   ⟹   ENSP00000455332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,479,791 - 84,504,690 (-)Ensembl
RefSeq Acc Id: NM_020947   ⟹   NP_065998
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,476,355 - 84,504,659 (-)NCBI
GRCh371684,509,966 - 84,538,366 (-)NCBI
Build 361683,068,608 - 83,095,794 (-)NCBI Archive
Celera1668,812,050 - 68,840,421 (-)RGD
HuRef1670,262,699 - 70,291,067 (-)ENTREZGENE
CHM1_11685,921,538 - 85,949,838 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005256075   ⟹   XP_005256132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,478,060 - 84,504,690 (-)NCBI
GRCh371684,509,966 - 84,538,366 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721240   ⟹   XP_006721303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,478,060 - 84,504,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523248   ⟹   XP_011521550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,478,060 - 84,504,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523249   ⟹   XP_011521551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,479,629 - 84,504,708 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023510   ⟹   XP_016878999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,478,060 - 84,504,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023511   ⟹   XP_016879000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,478,060 - 84,504,582 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023512   ⟹   XP_016879001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,478,060 - 84,504,693 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065998   ⟸   NM_020947
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot),   A8K5C2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005256132   ⟸   XM_005256075
- Peptide Label: isoform X2
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721303   ⟸   XM_006721240
- Peptide Label: isoform X2
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521551   ⟸   XM_011523249
- Peptide Label: isoform X2
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521550   ⟸   XM_011523248
- Peptide Label: isoform X2
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879001   ⟸   XM_017023512
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016878999   ⟸   XM_017023510
- Peptide Label: isoform X2
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879000   ⟸   XM_017023511
- Peptide Label: isoform X2
- UniProtKB: Q6P9B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000455332   ⟸   ENST00000570036
RefSeq Acc Id: ENSP00000457115   ⟸   ENST00000562447
RefSeq Acc Id: ENSP00000457557   ⟸   ENST00000565079
RefSeq Acc Id: ENSP00000455557   ⟸   ENST00000565765
RefSeq Acc Id: ENSP00000454265   ⟸   ENST00000566995
RefSeq Acc Id: ENSP00000343635   ⟸   ENST00000343629
Protein Domains
TLDc

Promoters
RGD ID:6793225
Promoter ID:HG_KWN:24380
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343629,   UC002FIC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361683,095,696 - 83,096,196 (-)MPROMDB
RGD ID:7233021
Promoter ID:EPDNEW_H22256
Type:initiation region
Name:TLDC1_2
Description:TBC/LysM-associated domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22257  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,504,625 - 84,504,685EPDNEW
RGD ID:7233023
Promoter ID:EPDNEW_H22257
Type:multiple initiation site
Name:TLDC1_1
Description:TBC/LysM-associated domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22256  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,504,836 - 84,504,896EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:84081930-85474903)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|See cases [RCV000052019] Chr16:84081930..85474903 [GRCh38]
Chr16:84115535..85508509 [GRCh37]
Chr16:82673036..84066010 [NCBI36]
Chr16:16q23.3-24.1
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 copy number loss See cases [RCV000053361] Chr16:83016872..85087809 [GRCh38]
Chr16:83050477..85121415 [GRCh37]
Chr16:81607978..83678916 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
NM_020947.3(TLDC1):c.1066C>T (p.Pro356Ser) single nucleotide variant Malignant melanoma [RCV000071260] Chr16:84482603 [GRCh38]
Chr16:84516209 [GRCh37]
Chr16:83073710 [NCBI36]
Chr16:16q24.1
not provided
NM_020947.3(TLDC1):c.-25-2A>G single nucleotide variant Lung cancer [RCV000100299] Chr16:84498113 [GRCh38]
Chr16:84531719 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 copy number loss See cases [RCV000133929] Chr16:83399060..84908120 [GRCh38]
Chr16:83432665..84941726 [GRCh37]
Chr16:81990166..83499227 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3 copy number gain See cases [RCV000135758] Chr16:83878992..84908120 [GRCh38]
Chr16:83912597..84941726 [GRCh37]
Chr16:82470098..83499227 [NCBI36]
Chr16:16q23.3-24.1
pathogenic|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 copy number loss See cases [RCV000139413] Chr16:83763804..84558035 [GRCh38]
Chr16:83797409..84591641 [GRCh37]
Chr16:82354910..83149142 [NCBI36]
Chr16:16q23.3-24.1
likely pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 copy number loss See cases [RCV000240561] Chr16:83496909..84695933 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16q24.1(chr16:84319435-85011988)x3 copy number gain See cases [RCV000446860] Chr16:84319435..85011988 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q24.1(chr16:84350068-84529303)x1 copy number loss See cases [RCV000447391] Chr16:84350068..84529303 [GRCh37]
Chr16:16q24.1
likely benign
GRCh37/hg19 16q24.1(chr16:84431548-84608026)x1 copy number loss See cases [RCV000446770] Chr16:84431548..84608026 [GRCh37]
Chr16:16q24.1
likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q24.1(chr16:84365725-84616225)x1 copy number loss See cases [RCV000511417] Chr16:84365725..84616225 [GRCh37]
Chr16:16q24.1
likely benign
GRCh37/hg19 16q24.1(chr16:84530234-84841354)x1 copy number loss See cases [RCV000510932] Chr16:84530234..84841354 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 copy number gain not provided [RCV000739258] Chr16:83813294..84984350 [GRCh37]
Chr16:16q23.3-24.1
likely benign
GRCh37/hg19 16q23.3-24.1(chr16:84145386-84724295)x3 copy number gain not provided [RCV000751788] Chr16:84145386..84724295 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q24.1(chr16:84433034-84544608)x3 copy number gain not provided [RCV000751794] Chr16:84433034..84544608 [GRCh37]
Chr16:16q24.1
benign
GRCh37/hg19 16q24.1(chr16:84440081-84524260)x1 copy number loss not provided [RCV000751795] Chr16:84440081..84524260 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.736C>T (p.Leu246=) single nucleotide variant not provided [RCV000967426] Chr16:84486853 [GRCh38]
Chr16:84520459 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.196C>T (p.Leu66=) single nucleotide variant not provided [RCV000970894] Chr16:84495871 [GRCh38]
Chr16:84529477 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.699G>C (p.Glu233Asp) single nucleotide variant not provided [RCV000947730] Chr16:84486890 [GRCh38]
Chr16:84520496 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.530-6C>T single nucleotide variant not provided [RCV000950814] Chr16:84487065 [GRCh38]
Chr16:84520671 [GRCh37]
Chr16:16q24.1
benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_020947.4(MEAK7):c.1258-6C>T single nucleotide variant not provided [RCV000904376] Chr16:84480032 [GRCh38]
Chr16:84513638 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.1089dup (p.Gln364fs) duplication not provided [RCV000918469] Chr16:84480696..84480697 [GRCh38]
Chr16:84514302..84514303 [GRCh37]
Chr16:16q24.1
likely benign
NM_020947.4(MEAK7):c.29G>T (p.Arg10Leu) single nucleotide variant not provided [RCV000947731] Chr16:84498058 [GRCh38]
Chr16:84531664 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.689T>C (p.Leu230Pro) single nucleotide variant not provided [RCV000959945] Chr16:84486900 [GRCh38]
Chr16:84520506 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.286T>G (p.Ser96Ala) single nucleotide variant not provided [RCV000959946] Chr16:84495781 [GRCh38]
Chr16:84529387 [GRCh37]
Chr16:16q24.1
benign
GRCh37/hg19 16q24.1(chr16:84423471-84530235)x1 copy number loss not provided [RCV000848695] Chr16:84423471..84530235 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16q24.1(chr16:84471514-84510221)x1 copy number loss not provided [RCV000849818] Chr16:84471514..84510221 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_020947.4(MEAK7):c.116A>G (p.Asn39Ser) single nucleotide variant not provided [RCV000900503] Chr16:84497971 [GRCh38]
Chr16:84531577 [GRCh37]
Chr16:16q24.1
likely benign
NM_020947.4(MEAK7):c.1301A>G (p.Gln434Arg) single nucleotide variant not provided [RCV000879142] Chr16:84479983 [GRCh38]
Chr16:84513589 [GRCh37]
Chr16:16q24.1
benign
NM_020947.4(MEAK7):c.1330C>T (p.Arg444Cys) single nucleotide variant not provided [RCV000959157] Chr16:84479954 [GRCh38]
Chr16:84513560 [GRCh37]
Chr16:16q24.1
likely benign
NM_020947.4(MEAK7):c.813G>A (p.Ser271=) single nucleotide variant not provided [RCV000950813] Chr16:84486776 [GRCh38]
Chr16:84520382 [GRCh37]
Chr16:16q24.1
benign
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 copy number loss not provided [RCV001006830] Chr16:83330709..84866927 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance
GRCh37/hg19 16q24.1(chr16:84420340-84664139)x3 copy number gain not provided [RCV001006834] Chr16:84420340..84664139 [GRCh37]
Chr16:16q24.1
uncertain significance
Single allele deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1
likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 copy number gain not provided [RCV001258657] Chr16:83866931..85276940 [GRCh37]
Chr16:16q23.3-24.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29325 AgrOrtholog
COSMIC MEAK7 COSMIC
Ensembl Genes ENSG00000140950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343635 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454265 UniProtKB/TrEMBL
  ENSP00000455332 UniProtKB/TrEMBL
  ENSP00000455557 UniProtKB/TrEMBL
  ENSP00000457115 UniProtKB/TrEMBL
  ENSP00000457557 UniProtKB/TrEMBL
Ensembl Transcript ENST00000343629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000562447 UniProtKB/TrEMBL
  ENST00000565079 UniProtKB/TrEMBL
  ENST00000565765 UniProtKB/TrEMBL
  ENST00000566995 UniProtKB/TrEMBL
  ENST00000570036 UniProtKB/TrEMBL
GTEx ENSG00000140950 GTEx
HGNC ID HGNC:29325 ENTREZGENE
Human Proteome Map MEAK7 Human Proteome Map
InterPro TLDc_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57707 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57707 ENTREZGENE
OMIM 619331 OMIM
Pfam TLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596416 PharmGKB
PROSITE TLDC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TLDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5C2 ENTREZGENE, UniProtKB/TrEMBL
  H3BM75_HUMAN UniProtKB/TrEMBL
  H3BPI4_HUMAN UniProtKB/TrEMBL
  H3BQ13_HUMAN UniProtKB/TrEMBL
  H3BTC5_HUMAN UniProtKB/TrEMBL
  H3BUB0_HUMAN UniProtKB/TrEMBL
  MEAK7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8IZ64 UniProtKB/Swiss-Prot
  Q9HCG3 UniProtKB/Swiss-Prot
  Q9NTE8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-01 MEAK7  MTOR associated protein, eak-7 homolog  TLDC1  TBC/LysM-associated domain containing 1  Symbol and/or name change 5135510 APPROVED
2013-03-19 TLDC1  TBC/LysM-associated domain containing 1  KIAA1609  KIAA1609  Symbol and/or name change 5135510 APPROVED