TTC36 (tetratricopeptide repeat domain 36) - Rat Genome Database

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Gene: TTC36 (tetratricopeptide repeat domain 36) Homo sapiens
Analyze
Symbol: TTC36
Name: tetratricopeptide repeat domain 36
RGD ID: 2293598
HGNC Page HGNC:33708
Description: Predicted to be involved in cilium assembly. Predicted to act upstream of or within several processes, including learning or memory; negative regulation of protein metabolic process; and tyrosine metabolic process.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HBP21; HSP70 binding protein 21; HSP70-binding protein 21; tetratricopeptide repeat protein 36; TPR repeat protein 36
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
GRCh3811118,527,474 - 118,530,993 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11118,527,472 - 118,531,197 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,398,189 - 118,401,708 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,903,420 - 117,906,950 (+)NCBINCBI36Build 36hg18NCBI36
Celera11115,559,004 - 115,562,534 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,334,900 - 114,338,430 (+)NCBIHuRef
CHM1_111118,284,861 - 118,288,391 (+)NCBICHM1_1
T2T-CHM13v2.011118,546,763 - 118,550,282 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Short stature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:18587674   PMID:21873635   PMID:23314748   PMID:26246424   PMID:31537781   PMID:35254105  


Genomics

Comparative Map Data
TTC36
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,527,474 - 118,530,993 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11118,527,472 - 118,531,197 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,398,189 - 118,401,708 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,903,420 - 117,906,950 (+)NCBINCBI36Build 36hg18NCBI36
Celera11115,559,004 - 115,562,534 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,334,900 - 114,338,430 (+)NCBIHuRef
CHM1_111118,284,861 - 118,288,391 (+)NCBICHM1_1
T2T-CHM13v2.011118,546,763 - 118,550,282 (+)NCBIT2T-CHM13v2.0
Ttc36
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,710,697 - 44,714,248 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,710,694 - 44,714,369 (-)EnsemblGRCm39 Ensembl
GRCm38944,799,400 - 44,802,951 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,799,397 - 44,803,072 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,607,483 - 44,611,034 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,550,395 - 44,553,946 (-)NCBIMGSCv36mm8
Celera942,064,332 - 42,067,883 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
Ttc36
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2845,112,737 - 45,116,345 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx850,607,880 - 50,611,489 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0848,886,597 - 48,890,206 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0846,757,216 - 46,760,825 (-)NCBIRnor_WKY
Rnor_6.0849,106,374 - 49,109,981 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,106,374 - 49,109,981 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,724,882 - 47,728,489 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,755,143 - 47,758,750 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,763,908 - 47,767,516 (-)NCBI
Celera844,697,747 - 44,701,354 (-)NCBICelera
Cytogenetic Map8q22NCBI
Ttc36
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541219,670,590 - 19,672,495 (+)NCBIChiLan1.0ChiLan1.0
TTC36
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111117,295,203 - 117,298,928 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,295,191 - 117,298,928 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011113,364,559 - 113,368,586 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
TTC36
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,207,400 - 15,211,905 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,207,403 - 15,211,853 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,258,596 - 15,263,166 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,149,571 - 15,154,142 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,149,568 - 15,154,017 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,288,041 - 15,292,599 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,191,521 - 15,196,082 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,232,519 - 15,237,088 (-)NCBIUU_Cfam_GSD_1.0
Ttc36
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,645,563 - 100,649,984 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365423,567,469 - 3,571,393 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC36
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,829,191 - 45,838,979 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,829,014 - 45,838,978 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,870,418 - 50,875,458 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TTC36
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,912,976 - 109,917,097 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604316,120,829 - 16,124,969 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttc36
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,913,225 - 13,931,581 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,913,218 - 13,931,581 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH44274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,397,176 - 118,397,296UniSTSGRCh37
Build 3611117,902,386 - 117,902,506RGDNCBI36
Celera11115,557,970 - 115,558,090RGD
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q23UniSTS
HuRef11114,333,866 - 114,333,986UniSTS
GeneMap99-GB4 RH Map11380.87UniSTS
WI-22011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,397,616 - 118,397,818UniSTSGRCh37
Build 3611117,902,826 - 117,903,028RGDNCBI36
Celera11115,558,410 - 115,558,612RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,334,306 - 114,334,508UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
Whitehead-RH Map11524.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1763
Count of miRNA genes:455
Interacting mature miRNAs:518
Transcripts:ENST00000302783, ENST00000528570, ENST00000533501, ENST00000539546
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 adipose tissue appendage entire extraembryonic component
High
Medium 25 12 324 324 33 324 50 1 3 49 22 1 95 2
Low 1538 1451 1277 246 630 106 2918 1385 2848 274 1237 1134 149 938 1878 3
Below cutoff 811 1157 116 48 749 30 1281 762 830 88 168 415 21 164 846 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000302783   ⟹   ENSP00000307640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,527,474 - 118,530,993 (+)Ensembl
RefSeq Acc Id: ENST00000528570   ⟹   ENSP00000437178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,527,472 - 118,531,197 (+)Ensembl
RefSeq Acc Id: ENST00000533501   ⟹   ENSP00000436858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,527,472 - 118,531,197 (+)Ensembl
RefSeq Acc Id: NM_001080441   ⟹   NP_001073910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,527,474 - 118,530,993 (+)NCBI
GRCh3711118,398,210 - 118,401,740 (+)RGD
Build 3611117,903,420 - 117,906,950 (+)NCBI Archive
Celera11115,559,004 - 115,562,534 (+)RGD
HuRef11114,334,900 - 114,338,430 (+)ENTREZGENE
CHM1_111118,284,861 - 118,288,391 (+)NCBI
T2T-CHM13v2.011118,546,763 - 118,550,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346096   ⟹   NP_001333025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,527,474 - 118,530,993 (+)NCBI
T2T-CHM13v2.011118,546,763 - 118,550,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346097   ⟹   NP_001333026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,527,474 - 118,530,993 (+)NCBI
T2T-CHM13v2.011118,546,763 - 118,550,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346098   ⟹   NP_001333027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,530,417 - 118,530,993 (+)NCBI
T2T-CHM13v2.011118,549,706 - 118,550,282 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001073910   ⟸   NM_001080441
- Peptide Label: isoform a
- UniProtKB: B9EJD8 (UniProtKB/Swiss-Prot),   A6NLP5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001333025   ⟸   NM_001346096
- Peptide Label: isoform b
- UniProtKB: A6NLP5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001333026   ⟸   NM_001346097
- Peptide Label: isoform b
- UniProtKB: A6NLP5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001333027   ⟸   NM_001346098
- Peptide Label: isoform c
- UniProtKB: A6NLP5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000436858   ⟸   ENST00000533501
RefSeq Acc Id: ENSP00000307640   ⟸   ENST00000302783
RefSeq Acc Id: ENSP00000437178   ⟸   ENST00000528570

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NLP5-F1-model_v2 AlphaFold A6NLP5 1-189 view protein structure

Promoters
RGD ID:6789494
Promoter ID:HG_KWN:14327
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001080441
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,903,321 - 117,903,847 (+)MPROMDB
RGD ID:7222309
Promoter ID:EPDNEW_H16900
Type:initiation region
Name:TTC36_2
Description:tetratricopeptide repeat domain 36
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16901  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,527,317 - 118,527,377EPDNEW
RGD ID:7222311
Promoter ID:EPDNEW_H16901
Type:initiation region
Name:TTC36_1
Description:tetratricopeptide repeat domain 36
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16900  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,527,475 - 118,527,535EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3(chr11:118503581-118554704)x3 copy number gain See cases [RCV000141999] Chr11:118503581..118554704 [GRCh38]
Chr11:118374296..118425419 [GRCh37]
Chr11:117879506..117930629 [NCBI36]
Chr11:11q23.3
uncertain significance|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:118374043-118422564)x3 copy number gain See cases [RCV000446208] Chr11:118374043..118422564 [GRCh37]
Chr11:11q23.3
likely benign
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3(chr11:118375009-118434226)x3 copy number gain See cases [RCV000511527] Chr11:118375009..118434226 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3(chr11:118374527-118425419)x3 copy number gain not provided [RCV000845622] Chr11:118374527..118425419 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3
uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication DPAGT1-CDG [RCV001975773] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_118390313)_(118550336_?)del deletion not provided [RCV001940057] Chr11:118390313..118550336 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication Glucose-6-phosphate transport defect [RCV001940046] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33708 AgrOrtholog
COSMIC TTC36 COSMIC
Ensembl Genes ENSG00000172425 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307640 ENTREZGENE
  ENSP00000307640.4 UniProtKB/Swiss-Prot
  ENSP00000436858.1 UniProtKB/TrEMBL
  ENSP00000437178.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000302783 ENTREZGENE
  ENST00000302783.10 UniProtKB/Swiss-Prot
  ENST00000528570.1 UniProtKB/TrEMBL
  ENST00000533501.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000172425 GTEx
HGNC ID HGNC:33708 ENTREZGENE
Human Proteome Map TTC36 Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
  TPR_repeat UniProtKB/Swiss-Prot
  TTC36 UniProtKB/Swiss-Prot
KEGG Report hsa:143941 UniProtKB/Swiss-Prot
NCBI Gene 143941 ENTREZGENE
PANTHER PTHR21405 UniProtKB/Swiss-Prot
PharmGKB PA162407225 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
UniProt A6NLP5 ENTREZGENE
  B9EJD8 ENTREZGENE
  E9PNF0_HUMAN UniProtKB/TrEMBL
  TTC36_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7ZW72 UniProtKB/Swiss-Prot
  B9EJD8 UniProtKB/Swiss-Prot