TTC39B (tetratricopeptide repeat domain 39B) - Rat Genome Database
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Gene: TTC39B (tetratricopeptide repeat domain 39B) Homo sapiens
Analyze
Symbol: TTC39B
Name: tetratricopeptide repeat domain 39B
RGD ID: 1314048
HGNC Page HGNC
Description: Predicted to be involved in several processes, including cholesterol homeostasis; negative regulation of cholesterol storage; and regulation of cholesterol efflux; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-hydroxypropanoic acid; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C9orf52; FLJ33868; tetratricopeptide repeat protein 39B; TPR repeat protein 39B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TTC39DP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl915,163,622 - 15,307,360 (-)EnsemblGRCh38hg38GRCh38
GRCh38915,163,622 - 15,307,360 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37915,163,620 - 15,307,358 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36915,161,561 - 15,297,244 (-)NCBINCBI36hg18NCBI36
Build 34915,161,560 - 15,297,244NCBI
Celera915,104,514 - 15,241,039 (-)NCBI
Cytogenetic Map9p22.3NCBI
HuRef915,134,002 - 15,270,023 (-)NCBIHuRef
CHM1_1915,171,189 - 15,307,662 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17213182   PMID:19060906   PMID:20379614   PMID:20571754   PMID:20686565   PMID:20705733   PMID:20864672   PMID:20889312   PMID:20972250   PMID:21873635  
PMID:22925353   PMID:24097068   PMID:25416956   PMID:25920552   PMID:25963833   PMID:26186194   PMID:27453397   PMID:28514442   PMID:30585266   PMID:32296183  


Genomics

Comparative Map Data
TTC39B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl915,163,622 - 15,307,360 (-)EnsemblGRCh38hg38GRCh38
GRCh38915,163,622 - 15,307,360 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37915,163,620 - 15,307,358 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36915,161,561 - 15,297,244 (-)NCBINCBI36hg18NCBI36
Build 34915,161,560 - 15,297,244NCBI
Celera915,104,514 - 15,241,039 (-)NCBI
Cytogenetic Map9p22.3NCBI
HuRef915,134,002 - 15,270,023 (-)NCBIHuRef
CHM1_1915,171,189 - 15,307,662 (-)NCBICHM1_1
Ttc39b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39483,138,537 - 83,242,488 (-)NCBIGRCm39mm39
GRCm39 Ensembl483,138,537 - 83,242,492 (-)Ensembl
GRCm38483,220,300 - 83,324,309 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl483,220,300 - 83,324,255 (-)EnsemblGRCm38mm10GRCm38
MGSCv37482,866,205 - 82,970,093 (-)NCBIGRCm37mm9NCBIm37
MGSCv36482,698,073 - 82,795,420 (-)NCBImm8
Celera481,749,116 - 81,852,836 (-)NCBICelera
Cytogenetic Map4C3NCBI
Ttc39b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2597,603,329 - 97,708,103 (-)NCBI
Rnor_6.0 Ensembl5101,304,982 - 101,405,656 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05101,304,982 - 101,405,689 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05105,325,543 - 105,422,721 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45102,064,300 - 102,162,978 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15102,082,312 - 102,168,201 (-)NCBI
Celera596,161,736 - 96,260,502 (-)NCBICelera
Cytogenetic Map5q31NCBI
Ttc39b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543418,070,536 - 18,150,858 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543418,063,520 - 18,150,858 (-)NCBIChiLan1.0ChiLan1.0
TTC39B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1915,502,811 - 15,633,374 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl915,502,811 - 15,633,374 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0914,994,729 - 15,127,877 (-)NCBIMhudiblu_PPA_v0panPan3
TTC39B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1135,472,016 - 35,589,835 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11135,465,198 - 35,557,800 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ttc39b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365398,644,456 - 8,766,696 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC39B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1207,347,010 - 207,495,965 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11207,347,345 - 207,490,753 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21231,160,107 - 231,280,020 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTC39B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11264,315,240 - 64,452,161 (+)NCBI
ChlSab1.1 Ensembl1264,372,763 - 64,450,973 (+)Ensembl
Ttc39b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473619,304,586 - 19,480,182 (-)NCBI

Position Markers
RH35968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37915,220,782 - 15,220,907UniSTSGRCh37
Build 36915,210,782 - 15,210,907RGDNCBI36
Celera915,154,455 - 15,154,580RGD
Cytogenetic Map9p22.3UniSTS
HuRef915,183,769 - 15,183,894UniSTS
GeneMap99-GB4 RH Map957.25UniSTS
NCBI RH Map9189.6UniSTS
RH123138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37915,273,945 - 15,274,251UniSTSGRCh37
Build 36915,263,945 - 15,264,251RGDNCBI36
Celera915,207,640 - 15,207,946RGD
Cytogenetic Map9p22.3UniSTS
HuRef915,236,804 - 15,237,110UniSTS
TNG Radiation Hybrid Map97711.0UniSTS
SHGC-144635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37915,289,722 - 15,290,030UniSTSGRCh37
Build 36915,279,722 - 15,280,030RGDNCBI36
Celera915,223,416 - 15,223,724RGD
Cytogenetic Map9p22.3UniSTS
HuRef915,252,574 - 15,252,882UniSTS
TNG Radiation Hybrid Map97724.0UniSTS
SHGC-155663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37915,207,259 - 15,207,532UniSTSGRCh37
Build 36915,197,259 - 15,197,532RGDNCBI36
Celera915,140,932 - 15,141,205RGD
Cytogenetic Map9p22.3UniSTS
HuRef915,170,325 - 15,170,598UniSTS
TNG Radiation Hybrid Map97669.0UniSTS
AB071091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37915,185,300 - 15,185,408UniSTSGRCh37
Build 36915,175,300 - 15,175,408RGDNCBI36
Celera915,118,972 - 15,119,080RGD
HuRef915,148,366 - 15,148,474UniSTS
GDB:1318581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37788,818,183 - 88,818,258UniSTSGRCh37
GRCh37915,195,357 - 15,195,752UniSTSGRCh37
Build 36788,656,119 - 88,656,194RGDNCBI36
Celera783,522,947 - 83,523,022RGD
Celera915,129,029 - 15,129,424UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map9p22.3UniSTS
HuRef783,427,952 - 83,428,027UniSTS
HuRef915,158,423 - 15,158,819UniSTS
CRA_TCAGchr7v2788,149,357 - 88,149,432UniSTS
SHGC-33781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37915,220,693 - 15,220,822UniSTSGRCh37
Build 36915,210,693 - 15,210,822RGDNCBI36
Celera915,154,366 - 15,154,495RGD
Cytogenetic Map9p22.3UniSTS
HuRef915,183,680 - 15,183,809UniSTS
Stanford-G3 RH Map9586.0UniSTS
GeneMap99-GB4 RH Map957.25UniSTS
Whitehead-RH Map958.7UniSTS
NCBI RH Map9212.6UniSTS
GeneMap99-G3 RH Map9586.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4616
Count of miRNA genes:1183
Interacting mature miRNAs:1496
Transcripts:ENST00000297615, ENST00000355694, ENST00000380850, ENST00000380853, ENST00000505732, ENST00000506891, ENST00000507285, ENST00000507993, ENST00000512701, ENST00000541445, ENST00000582994
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
High
Medium 115 375 48 5 59 3 1146 18 379 47 104 179 3 2 647
Low 2314 2074 1666 608 1464 452 3082 1806 3273 367 1339 1422 169 1 1202 2020 5
Below cutoff 4 537 10 9 416 9 128 370 78 5 7 8 121

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001168339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI473911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX105862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT217817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297615   ⟹   ENSP00000297615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,170,845 - 15,307,360 (-)Ensembl
RefSeq Acc Id: ENST00000380850   ⟹   ENSP00000370231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,170,845 - 15,307,360 (-)Ensembl
RefSeq Acc Id: ENST00000380853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,171,564 - 15,188,065 (-)Ensembl
RefSeq Acc Id: ENST00000505732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,186,587 - 15,307,360 (-)Ensembl
RefSeq Acc Id: ENST00000506891   ⟹   ENSP00000427314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,249,042 - 15,307,209 (-)Ensembl
RefSeq Acc Id: ENST00000507285   ⟹   ENSP00000426539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,171,929 - 15,232,444 (-)Ensembl
RefSeq Acc Id: ENST00000507993   ⟹   ENSP00000423392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,171,946 - 15,250,116 (-)Ensembl
RefSeq Acc Id: ENST00000512701   ⟹   ENSP00000422496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,163,622 - 15,307,360 (-)Ensembl
RefSeq Acc Id: ENST00000582994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl915,214,138 - 15,232,444 (-)Ensembl
RefSeq Acc Id: NM_001168339   ⟹   NP_001161811
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,307,360 (-)NCBI
GRCh37915,170,842 - 15,307,358 (-)RGD
Celera915,104,514 - 15,241,039 (-)RGD
HuRef915,134,002 - 15,270,023 (-)ENTREZGENE
CHM1_1915,171,189 - 15,307,662 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168340   ⟹   NP_001161812
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,307,360 (-)NCBI
GRCh37915,170,842 - 15,307,358 (-)RGD
Celera915,104,514 - 15,241,039 (-)RGD
HuRef915,134,002 - 15,270,023 (-)ENTREZGENE
CHM1_1915,171,189 - 15,307,662 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168341   ⟹   NP_001161813
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,307,360 (-)NCBI
GRCh37915,170,842 - 15,307,358 (-)RGD
Celera915,104,514 - 15,241,039 (-)RGD
HuRef915,134,002 - 15,270,023 (-)ENTREZGENE
CHM1_1915,171,189 - 15,307,662 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168342   ⟹   NP_001161814
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,163,622 - 15,250,218 (-)NCBI
GRCh37915,170,842 - 15,307,358 (-)RGD
Celera915,104,514 - 15,241,039 (-)RGD
HuRef915,134,002 - 15,270,023 (-)ENTREZGENE
CHM1_1915,171,189 - 15,250,516 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152574   ⟹   NP_689787
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,307,360 (-)NCBI
GRCh37915,170,842 - 15,307,358 (-)RGD
Build 36915,161,561 - 15,297,244 (-)NCBI Archive
Celera915,104,514 - 15,241,039 (-)RGD
HuRef915,134,002 - 15,270,023 (-)ENTREZGENE
CHM1_1915,171,189 - 15,307,662 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517732   ⟹   XP_011516034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,232,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014310   ⟹   XP_016869799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,299,751 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014311   ⟹   XP_016869800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,299,751 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014312   ⟹   XP_016869801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,250,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447422   ⟹   XP_024303190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,300,647 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447423   ⟹   XP_024303191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,250,371 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447424   ⟹   XP_024303192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,232,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447425   ⟹   XP_024303193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,170,844 - 15,224,359 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746190
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,167,204 - 15,307,360 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001161811   ⟸   NM_001168339
- Peptide Label: isoform 2
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689787   ⟸   NM_152574
- Peptide Label: isoform 1
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161812   ⟸   NM_001168340
- Peptide Label: isoform 3
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161813   ⟸   NM_001168341
- Peptide Label: isoform 4
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161814   ⟸   NM_001168342
- Peptide Label: isoform 5
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516034   ⟸   XM_011517732
- Peptide Label: isoform X2
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869800   ⟸   XM_017014311
- Peptide Label: isoform X2
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869799   ⟸   XM_017014310
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869801   ⟸   XM_017014312
- Peptide Label: isoform X2
- UniProtKB: Q5VTQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303190   ⟸   XM_024447422
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303191   ⟸   XM_024447423
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303192   ⟸   XM_024447424
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303193   ⟸   XM_024447425
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000427314   ⟸   ENST00000506891
RefSeq Acc Id: ENSP00000426539   ⟸   ENST00000507285
RefSeq Acc Id: ENSP00000423392   ⟸   ENST00000507993
RefSeq Acc Id: ENSP00000297615   ⟸   ENST00000297615
RefSeq Acc Id: ENSP00000422496   ⟸   ENST00000512701
RefSeq Acc Id: ENSP00000370231   ⟸   ENST00000380850

Promoters
RGD ID:6808334
Promoter ID:HG_KWN:62682
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000051759
Position:
Human AssemblyChrPosition (strand)Source
Build 36915,284,271 - 15,284,771 (-)MPROMDB
RGD ID:6808336
Promoter ID:HG_KWN:62683
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000380849,   NM_001168339,   NM_001168340,   NM_001168341,   NM_152574,   UC010MIF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36915,296,936 - 15,297,436 (-)MPROMDB
RGD ID:7214709
Promoter ID:EPDNEW_H13100
Type:initiation region
Name:TTC39B_1
Description:tetratricopeptide repeat domain 39B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13101  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,307,215 - 15,307,275EPDNEW
RGD ID:7214711
Promoter ID:EPDNEW_H13101
Type:initiation region
Name:TTC39B_2
Description:tetratricopeptide repeat domain 39B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13100  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,307,344 - 15,307,404EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 copy number loss See cases [RCV000050580] Chr9:9661633..18034356 [GRCh38]
Chr9:9661633..18034354 [GRCh37]
Chr9:9651633..18024354 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 copy number loss See cases [RCV000051021] Chr9:11086096..17636671 [GRCh38]
Chr9:11086096..17636669 [GRCh37]
Chr9:11076096..17626669 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 copy number loss See cases [RCV000052899] Chr9:11818291..17963882 [GRCh38]
Chr9:11818291..17963880 [GRCh37]
Chr9:11808291..17953880 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p22.3(chr9:14210805-15317500)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|See cases [RCV000052900] Chr9:14210805..15317500 [GRCh38]
Chr9:14210804..15317498 [GRCh37]
Chr9:14200804..15307498 [NCBI36]
Chr9:9p22.3
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
NM_001168339.1(TTC39B):c.1777C>T (p.Leu593Phe) single nucleotide variant Malignant melanoma [RCV000068608] Chr9:15177755 [GRCh38]
Chr9:15177753 [GRCh37]
Chr9:15167753 [NCBI36]
Chr9:9p22.3
not provided
NM_001168339.1(TTC39B):c.1762C>T (p.Leu588Phe) single nucleotide variant Malignant melanoma [RCV000068609] Chr9:15177770 [GRCh38]
Chr9:15177768 [GRCh37]
Chr9:15167768 [NCBI36]
Chr9:9p22.3
not provided
NM_001168339.1(TTC39B):c.372-3573G>T single nucleotide variant Lung cancer [RCV000108201] Chr9:15217822 [GRCh38]
Chr9:15217820 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p22.3(chr9:15300542-15381614) copy number loss Abnormality of esophagus morphology [RCV000416879] Chr9:15300542..15381614 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss PARP Inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1 copy number loss Intellectual disability [RCV000681561] Chr9:14178768..16619009 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 copy number loss Turricephaly [RCV000681562] Chr9:13563537..18491752 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 copy number loss Oxycephaly [RCV000681563] Chr9:13739630..18023839 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.3(chr9:14879869-15543074)x3 copy number gain not provided [RCV000683138] Chr9:14879869..15543074 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p22.3(chr9:15243411-15359217)x1 copy number loss not provided [RCV000748252] Chr9:15243411..15359217 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
NM_152574.2(TTC39B):c.339G>A (p.Ala113=) single nucleotide variant not provided [RCV000947155] Chr9:15225949 [GRCh38]
Chr9:15225947 [GRCh37]
Chr9:9p22.3
benign
NM_152574.2(TTC39B):c.975T>C (p.Phe325=) single nucleotide variant not provided [RCV000967119] Chr9:15191211 [GRCh38]
Chr9:15191209 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_152574.2(TTC39B):c.1936A>G (p.Ile646Val) single nucleotide variant not provided [RCV000947153] Chr9:15175041 [GRCh38]
Chr9:15175039 [GRCh37]
Chr9:9p22.3
benign
NM_152574.2(TTC39B):c.1818A>G (p.Leu606=) single nucleotide variant not provided [RCV000947154] Chr9:15177720 [GRCh38]
Chr9:15177718 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p22.3(chr9:15241645-15504916)x3 copy number gain not provided [RCV001006215] Chr9:15241645..15504916 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p22.3(chr9:15230481-15371734)x1 copy number loss not provided [RCV001006214] Chr9:15230481..15371734 [GRCh37]
Chr9:9p22.3
likely benign
NM_152574.2(TTC39B):c.1173+4C>T single nucleotide variant not provided [RCV000967118] Chr9:15189721 [GRCh38]
Chr9:15189719 [GRCh37]
Chr9:9p22.3
benign
NM_152574.2(TTC39B):c.1419A>G (p.Ala473=) single nucleotide variant not provided [RCV000956708] Chr9:15187012 [GRCh38]
Chr9:15187010 [GRCh37]
Chr9:9p22.3
benign
GRCh37/hg19 9p22.3(chr9:14420900-15379492)x1 copy number loss not provided [RCV001006212] Chr9:14420900..15379492 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p22.3(chr9:14986782-15296450)x1 copy number loss not provided [RCV001260070] Chr9:14986782..15296450 [GRCh37]
Chr9:9p22.3
likely benign
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263226] Chr9:13638428..17121764 [GRCh37]
Chr9:9p23-22.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23704 AgrOrtholog
COSMIC TTC39B COSMIC
Ensembl Genes ENSG00000155158 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297615 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370231 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422496 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423392 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427314 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297615 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000506891 UniProtKB/TrEMBL
  ENST00000507285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000507993 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000512701 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000155158 GTEx
HGNC ID HGNC:23704 ENTREZGENE
Human Proteome Map TTC39B Human Proteome Map
InterPro Iml2/TPR_39 UniProtKB/Swiss-Prot
  TPR_repeat UniProtKB/Swiss-Prot
  TTC39B UniProtKB/Swiss-Prot
KEGG Report hsa:158219 UniProtKB/Swiss-Prot
NCBI Gene 158219 ENTREZGENE
OMIM 613574 OMIM
PANTHER PTHR31859 UniProtKB/Swiss-Prot
  PTHR31859:SF4 UniProtKB/Swiss-Prot
Pfam DUF3808 UniProtKB/Swiss-Prot
  TPR_6 UniProtKB/Swiss-Prot
PharmGKB PA162407261 PharmGKB
SMART TPR UniProtKB/Swiss-Prot
UniProt H0YAJ6_HUMAN UniProtKB/TrEMBL
  Q5VTQ0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5PLN1 UniProtKB/Swiss-Prot
  B4DQ10 UniProtKB/Swiss-Prot
  B4DQX4 UniProtKB/Swiss-Prot
  B4DW93 UniProtKB/Swiss-Prot
  Q8IVR7 UniProtKB/Swiss-Prot
  Q8IXZ6 UniProtKB/Swiss-Prot
  Q8N267 UniProtKB/Swiss-Prot