TTC13 (tetratricopeptide repeat domain 13) - Rat Genome Database

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Gene: TTC13 (tetratricopeptide repeat domain 13) Homo sapiens
Analyze
Symbol: TTC13
Name: tetratricopeptide repeat domain 13
RGD ID: 1320938
HGNC Page HGNC:26204
Description: ASSOCIATED WITH Actin-Accumulation Myopathy; congenital disorder of glycosylation type IIq; Gastrointestinal stroma tumor; INTERACTS WITH 2-hydroxypropanoic acid; 2-methylcholine; benzo[a]pyrene
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ22584; tetratricopeptide repeat protein 13; TPR repeat protein 13
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
GRCh381230,906,243 - 230,978,861 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1230,906,243 - 230,978,875 (-)EnsemblGRCh38hg38GRCh38
GRCh371231,041,989 - 231,114,607 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,108,613 - 229,181,207 (-)NCBINCBI36Build 36hg18NCBI36
Build 341227,348,724 - 227,421,319NCBI
Celera1204,307,932 - 204,380,251 (-)NCBICelera
Cytogenetic Map1q42.2NCBI
HuRef1201,526,601 - 201,599,336 (-)NCBIHuRef
CHM1_11232,314,940 - 232,387,908 (-)NCBICHM1_1
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16344560   PMID:22268729   PMID:26638075   PMID:26972000   PMID:27375898   PMID:28675297   PMID:29395067   PMID:29987050  
PMID:30344098   PMID:31073040   PMID:31091453   PMID:32838362   PMID:32877691   PMID:33545068   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34597346   PMID:34672954   PMID:34709727  
PMID:35007762   PMID:35271311   PMID:35338135   PMID:35384245   PMID:35696571   PMID:36215168   PMID:36610398   PMID:37927783  


Genomics

Comparative Map Data
TTC13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381230,906,243 - 230,978,861 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1230,906,243 - 230,978,875 (-)EnsemblGRCh38hg38GRCh38
GRCh371231,041,989 - 231,114,607 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,108,613 - 229,181,207 (-)NCBINCBI36Build 36hg18NCBI36
Build 341227,348,724 - 227,421,319NCBI
Celera1204,307,932 - 204,380,251 (-)NCBICelera
Cytogenetic Map1q42.2NCBI
HuRef1201,526,601 - 201,599,336 (-)NCBIHuRef
CHM1_11232,314,940 - 232,387,908 (-)NCBICHM1_1
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBIT2T-CHM13v2.0
Ttc13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398125,398,066 - 125,448,748 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8125,398,071 - 125,448,722 (-)EnsemblGRCm39 Ensembl
GRCm388124,671,327 - 124,722,011 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8124,671,332 - 124,721,983 (-)EnsemblGRCm38mm10GRCm38
MGSCv378127,195,227 - 127,245,875 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368127,557,417 - 127,608,052 (-)NCBIMGSCv36mm8
Celera8128,969,473 - 129,027,118 (-)NCBICelera
Cytogenetic Map8E2NCBI
cM Map872.81NCBI
Ttc13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81969,534,989 - 69,589,590 (-)NCBIGRCr8
mRatBN7.21952,637,599 - 52,692,196 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1952,637,431 - 52,692,198 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1959,422,195 - 59,476,849 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01960,274,086 - 60,327,599 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01962,348,659 - 62,403,299 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01957,429,980 - 57,484,583 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1957,429,980 - 57,484,742 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01968,135,050 - 68,189,367 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41954,848,488 - 54,904,567 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11954,853,541 - 54,909,433 (-)NCBI
Celera1952,006,329 - 52,060,544 (-)NCBICelera
Cytogenetic Map19q12NCBI
Ttc13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554927,683,443 - 7,743,718 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554927,683,353 - 7,743,066 (+)NCBIChiLan1.0ChiLan1.0
TTC13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2118,228,170 - 18,301,034 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1118,420,701 - 18,493,576 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01206,454,877 - 206,527,628 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11211,481,786 - 211,536,834 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1211,481,786 - 211,536,837 (-)Ensemblpanpan1.1panPan2
TTC13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.148,424,835 - 8,503,133 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl48,424,882 - 8,502,600 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha48,416,667 - 8,496,911 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.048,450,010 - 8,529,676 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl48,450,033 - 8,527,678 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.148,453,507 - 8,533,827 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.048,575,523 - 8,655,844 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.048,805,639 - 8,885,928 (+)NCBIUU_Cfam_GSD_1.0
Ttc13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934443,397,582 - 43,455,288 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648419,577,065 - 19,619,800 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648419,574,455 - 19,620,505 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1459,409,123 - 59,509,549 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11459,409,128 - 59,491,966 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21464,073,719 - 64,156,593 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTC13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12568,147,950 - 68,251,017 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605570,081,179 - 70,157,084 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttc13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477518,652,605 - 18,713,965 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477518,652,611 - 18,713,577 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTC13
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 copy number gain See cases [RCV000050291] Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3 copy number gain See cases [RCV000051559] Chr1:229883805..231517553 [GRCh38]
Chr1:230019552..231653299 [GRCh37]
Chr1:228086175..229719922 [NCBI36]
Chr1:1q42.13-42.2		 uncertain significance
GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3 copy number gain See cases [RCV000051560] Chr1:230489657..231243203 [GRCh38]
Chr1:230625403..231378949 [GRCh37]
Chr1:228692026..229445572 [NCBI36]
Chr1:1q42.13-42.2		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
NM_001122835.2(TTC13):c.994G>A (p.Glu332Lys) single nucleotide variant Malignant melanoma [RCV000064572] Chr1:230931445 [GRCh38]
Chr1:231067191 [GRCh37]
Chr1:229133814 [NCBI36]
Chr1:1q42.2		 not provided
NM_001122835.2(TTC13):c.556C>T (p.Leu186Phe) single nucleotide variant Malignant melanoma [RCV000064573] Chr1:230940514 [GRCh38]
Chr1:231076260 [GRCh37]
Chr1:229142883 [NCBI36]
Chr1:1q42.2		 not provided
GRCh38/hg38 1q42.2(chr1:230749331-231192557)x1 copy number loss See cases [RCV000133617] Chr1:230749331..231192557 [GRCh38]
Chr1:230885077..231328303 [GRCh37]
Chr1:228951700..229394926 [NCBI36]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 copy number gain See cases [RCV000148222] Chr1:230519755..231232066 [GRCh38]
Chr1:230655501..231367812 [GRCh37]
Chr1:228722124..229434435 [NCBI36]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:230619349-231413907)x3 copy number gain See cases [RCV000511859] Chr1:230619349..231413907 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
NM_024525.5(TTC13):c.2407A>T (p.Met803Leu) single nucleotide variant Inborn genetic diseases [RCV003299192] Chr1:230908773 [GRCh38]
Chr1:231044519 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2171C>T (p.Ala724Val) single nucleotide variant Inborn genetic diseases [RCV003304512] Chr1:230912681 [GRCh38]
Chr1:231048427 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1456A>C (p.Lys486Gln) single nucleotide variant Inborn genetic diseases [RCV003259338] Chr1:230928938 [GRCh38]
Chr1:231064684 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.170A>G (p.Gln57Arg) single nucleotide variant Inborn genetic diseases [RCV003281371] Chr1:230978661 [GRCh38]
Chr1:231114407 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
GRCh37/hg19 1q42.2(chr1:230921930-231387086)x3 copy number gain not provided [RCV000847404] Chr1:230921930..231387086 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3 copy number gain not provided [RCV001005189] Chr1:230616084..231410027 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance
NM_024525.5(TTC13):c.2573A>C (p.Lys858Thr) single nucleotide variant Inborn genetic diseases [RCV003249751] Chr1:230906915 [GRCh38]
Chr1:231042661 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1703T>C (p.Ile568Thr) single nucleotide variant Inborn genetic diseases [RCV003239563] Chr1:230924859 [GRCh38]
Chr1:231060605 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NC_000001.10:g.(?_229567246)_(232172577_?)dup duplication Actin accumulation myopathy [RCV003120751]|not provided [RCV001943051] Chr1:229567246..232172577 [GRCh37]
Chr1:1q42.13-42.2		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_230203028)_(231413288_?)del deletion Congenital disorder of glycosylation, type IIq [RCV003109448]|not provided [RCV003113491] Chr1:230203028..231413288 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic|no classifications from unflagged records
NC_000001.10:g.(?_229567246)_(231413288_?)del deletion not provided [RCV003116710] Chr1:229567246..231413288 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_024525.5(TTC13):c.1972C>T (p.Pro658Ser) single nucleotide variant Inborn genetic diseases [RCV002859596] Chr1:230920521 [GRCh38]
Chr1:231056267 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.378G>C (p.Lys126Asn) single nucleotide variant Inborn genetic diseases [RCV002754307] Chr1:230958288 [GRCh38]
Chr1:231094034 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2123C>T (p.Thr708Ile) single nucleotide variant Inborn genetic diseases [RCV002817305] Chr1:230912729 [GRCh38]
Chr1:231048475 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.20G>T (p.Cys7Phe) single nucleotide variant Inborn genetic diseases [RCV002841709] Chr1:230978811 [GRCh38]
Chr1:231114557 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_024525.5(TTC13):c.43G>A (p.Gly15Ser) single nucleotide variant Inborn genetic diseases [RCV002991072] Chr1:230978788 [GRCh38]
Chr1:231114534 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
NM_024525.5(TTC13):c.1475A>G (p.Asn492Ser) single nucleotide variant Inborn genetic diseases [RCV002758985] Chr1:230925630 [GRCh38]
Chr1:231061376 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1624G>A (p.Val542Met) single nucleotide variant Inborn genetic diseases [RCV002951647] Chr1:230924938 [GRCh38]
Chr1:231060684 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1711A>G (p.Lys571Glu) single nucleotide variant Inborn genetic diseases [RCV002977799] Chr1:230924851 [GRCh38]
Chr1:231060597 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1574A>G (p.Lys525Arg) single nucleotide variant Inborn genetic diseases [RCV002691344] Chr1:230925531 [GRCh38]
Chr1:231061277 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2296T>G (p.Ser766Ala) single nucleotide variant Inborn genetic diseases [RCV002708524] Chr1:230911483 [GRCh38]
Chr1:231047229 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.46G>T (p.Ala16Ser) single nucleotide variant Inborn genetic diseases [RCV002765207] Chr1:230978785 [GRCh38]
Chr1:231114531 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.25T>A (p.Cys9Ser) single nucleotide variant Inborn genetic diseases [RCV002931617] Chr1:230978806 [GRCh38]
Chr1:231114552 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2000C>T (p.Thr667Met) single nucleotide variant Inborn genetic diseases [RCV002986434] Chr1:230916286 [GRCh38]
Chr1:231052032 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_024525.5(TTC13):c.1639A>G (p.Thr547Ala) single nucleotide variant Inborn genetic diseases [RCV002855806] Chr1:230924923 [GRCh38]
Chr1:231060669 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1630C>T (p.Arg544Cys) single nucleotide variant Inborn genetic diseases [RCV002963746] Chr1:230924932 [GRCh38]
Chr1:231060678 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.1126C>T (p.Arg376Trp) single nucleotide variant Inborn genetic diseases [RCV003196056] Chr1:230931472 [GRCh38]
Chr1:231067218 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2416C>T (p.Pro806Ser) single nucleotide variant Inborn genetic diseases [RCV003194679] Chr1:230908764 [GRCh38]
Chr1:231044510 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2038C>G (p.Leu680Val) single nucleotide variant Inborn genetic diseases [RCV003216203] Chr1:230916248 [GRCh38]
Chr1:231051994 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2429C>T (p.Ala810Val) single nucleotide variant Inborn genetic diseases [RCV003200241] Chr1:230908751 [GRCh38]
Chr1:231044497 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.2101A>G (p.Asn701Asp) single nucleotide variant Inborn genetic diseases [RCV003304117] Chr1:230912751 [GRCh38]
Chr1:231048497 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.976G>A (p.Ala326Thr) single nucleotide variant Inborn genetic diseases [RCV003219321] Chr1:230933786 [GRCh38]
Chr1:231069532 [GRCh37]
Chr1:1q42.2		 uncertain significance
NM_024525.5(TTC13):c.668C>T (p.Ala223Val) single nucleotide variant Inborn genetic diseases [RCV003308891] Chr1:230943810 [GRCh38]
Chr1:231079556 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
NM_024525.5(TTC13):c.1279C>G (p.Leu427Val) single nucleotide variant Inborn genetic diseases [RCV003369713] Chr1:230931319 [GRCh38]
Chr1:231067065 [GRCh37]
Chr1:1q42.2		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1 copy number loss not provided [RCV003484077] Chr1:230231959..238032346 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_024525.5(TTC13):c.45C>T (p.Gly15=) single nucleotide variant not provided [RCV003414944] Chr1:230978786 [GRCh38]
Chr1:231114532 [GRCh37]
Chr1:1q42.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1674
Count of miRNA genes:644
Interacting mature miRNAs:733
Transcripts:ENST00000366661, ENST00000366662, ENST00000414259, ENST00000466507, ENST00000471302, ENST00000481976, ENST00000486879, ENST00000519379, ENST00000522399, ENST00000522821
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.

Markers in Region
SHGC-58829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,042,071 - 231,042,163UniSTSGRCh37
Build 361229,108,694 - 229,108,786RGDNCBI36
Celera1204,308,016 - 204,308,108RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,526,685 - 201,526,777UniSTS
TNG Radiation Hybrid Map1116091.0UniSTS
SHGC-82968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,078,603 - 231,078,822UniSTSGRCh37
Build 361229,145,226 - 229,145,445RGDNCBI36
Celera1204,344,563 - 204,344,782RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,563,338 - 201,563,557UniSTS
TNG Radiation Hybrid Map1116087.0UniSTS
RH120092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,092,118 - 231,092,402UniSTSGRCh37
Build 361229,158,741 - 229,159,025RGDNCBI36
Celera1204,358,075 - 204,358,360RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,576,850 - 201,577,135UniSTS
TNG Radiation Hybrid Map1116091.0UniSTS
STS-T79190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,103,938 - 231,104,133UniSTSGRCh37
Build 361229,170,561 - 229,170,756RGDNCBI36
Celera1204,369,994 - 204,370,202RGD
Cytogenetic Map1q42.2UniSTS
HuRef1201,588,636 - 201,588,844UniSTS
GeneMap99-GB4 RH Map1735.38UniSTS
NCBI RH Map12023.7UniSTS


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 1631 1610 1001 173 1513 114 3111 719 1766 127 822 1448 74 1 853 1919 2 2
Low 808 1381 725 451 437 351 1246 1478 1968 292 638 165 101 351 869 4
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001122835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK026237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW613930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS051183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA468037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA741498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA752300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL946523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366661   ⟹   ENSP00000355621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,906,243 - 230,978,861 (-)Ensembl
RefSeq Acc Id: ENST00000366662   ⟹   ENSP00000355622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,906,243 - 230,978,859 (-)Ensembl
RefSeq Acc Id: ENST00000466507   ⟹   ENSP00000431120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,940,509 - 230,978,835 (-)Ensembl
RefSeq Acc Id: ENST00000471302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,911,377 - 230,921,506 (-)Ensembl
RefSeq Acc Id: ENST00000481976   ⟹   ENSP00000430280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,931,418 - 230,978,875 (-)Ensembl
RefSeq Acc Id: ENST00000486879   ⟹   ENSP00000428447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,920,303 - 230,924,863 (-)Ensembl
RefSeq Acc Id: ENST00000519379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,933,816 - 230,936,637 (-)Ensembl
RefSeq Acc Id: ENST00000522399   ⟹   ENSP00000428622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,939,458 - 230,978,861 (-)Ensembl
RefSeq Acc Id: ENST00000522821   ⟹   ENSP00000430385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1230,933,783 - 230,978,796 (-)Ensembl
RefSeq Acc Id: NM_001122835   ⟹   NP_001116307
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
GRCh371231,041,987 - 231,114,618 (-)RGD
Celera1204,307,932 - 204,380,251 (-)RGD
HuRef1201,526,601 - 201,599,336 (-)RGD
CHM1_11232,314,940 - 232,387,908 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376507   ⟹   NP_001363436
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376508   ⟹   NP_001363437
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376509   ⟹   NP_001363438
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376510   ⟹   NP_001363439
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376511   ⟹   NP_001363440
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376512   ⟹   NP_001363441
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376513   ⟹   NP_001363442
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376514   ⟹   NP_001363443
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024525   ⟹   NP_078801
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
GRCh371231,041,987 - 231,114,618 (-)RGD
Build 361229,108,613 - 229,181,207 (-)NCBI Archive
Celera1204,307,932 - 204,380,251 (-)RGD
HuRef1201,526,601 - 201,599,336 (-)RGD
CHM1_11232,314,940 - 232,387,908 (-)NCBI
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005273264   ⟹   XP_005273321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
GRCh371231,041,987 - 231,114,618 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711814   ⟹   XP_006711877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544276   ⟹   XP_011542578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,935,043 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430306   ⟹   XP_047286262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,978,861 (-)NCBI
RefSeq Acc Id: XM_047430313   ⟹   XP_047286269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,906,243 - 230,958,300 (-)NCBI
RefSeq Acc Id: XM_047430332   ⟹   XP_047286288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,928,056 - 230,978,861 (-)NCBI
RefSeq Acc Id: XM_054338705   ⟹   XP_054194680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338706   ⟹   XP_054194681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338707   ⟹   XP_054194682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338708   ⟹   XP_054194683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338709   ⟹   XP_054194684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338710   ⟹   XP_054194685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338711   ⟹   XP_054194686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338712   ⟹   XP_054194687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338713   ⟹   XP_054194688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338714   ⟹   XP_054194689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338715   ⟹   XP_054194690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,359,339 (-)NCBI
RefSeq Acc Id: XM_054338716   ⟹   XP_054194691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,338,779 (-)NCBI
RefSeq Acc Id: XM_054338717   ⟹   XP_054194692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,286,691 - 230,315,520 (-)NCBI
RefSeq Acc Id: XM_054338718   ⟹   XP_054194693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01230,308,523 - 230,359,339 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001116307 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363436 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363437 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363439 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363443 (Get FASTA)   NCBI Sequence Viewer  
  NP_078801 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273321 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711877 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542578 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286262 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286269 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194684 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194685 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194686 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194687 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194688 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194689 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194690 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194691 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194692 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194693 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH42683 (Get FASTA)   NCBI Sequence Viewer  
  ADO22198 (Get FASTA)   NCBI Sequence Viewer  
  BAB15407 (Get FASTA)   NCBI Sequence Viewer  
  BAC11586 (Get FASTA)   NCBI Sequence Viewer  
  BAC11700 (Get FASTA)   NCBI Sequence Viewer  
  CAD39113 (Get FASTA)   NCBI Sequence Viewer  
  CAH10599 (Get FASTA)   NCBI Sequence Viewer  
  CAI72087 (Get FASTA)   NCBI Sequence Viewer  
  EAW69929 (Get FASTA)   NCBI Sequence Viewer  
  EAW69930 (Get FASTA)   NCBI Sequence Viewer  
  EAW69931 (Get FASTA)   NCBI Sequence Viewer  
  EAW69932 (Get FASTA)   NCBI Sequence Viewer  
  EAW69933 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000355621
  ENSP00000355621.4
  ENSP00000355622
  ENSP00000355622.4
  ENSP00000428447.1
  ENSP00000428622.1
  ENSP00000430280.1
  ENSP00000430385.1
  ENSP00000431120.1
GenBank Protein Q8NBP0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_078801   ⟸   NM_024525
- Peptide Label: isoform a
- UniProtKB: Q8NBI0 (UniProtKB/Swiss-Prot),   Q8IVP8 (UniProtKB/Swiss-Prot),   B1AQI2 (UniProtKB/Swiss-Prot),   B1AQI1 (UniProtKB/Swiss-Prot),   Q8ND20 (UniProtKB/Swiss-Prot),   Q8NBP0 (UniProtKB/Swiss-Prot),   A0A384NPL4 (UniProtKB/TrEMBL),   Q69YR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116307   ⟸   NM_001122835
- Peptide Label: isoform b
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273321   ⟸   XM_005273264
- Peptide Label: isoform X1
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711877   ⟸   XM_006711814
- Peptide Label: isoform X2
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542578   ⟸   XM_011544276
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001363443   ⟸   NM_001376514
- Peptide Label: isoform 10
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363438   ⟸   NM_001376509
- Peptide Label: isoform 5
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363440   ⟸   NM_001376511
- Peptide Label: isoform 7
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363437   ⟸   NM_001376508
- Peptide Label: isoform 4
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363442   ⟸   NM_001376513
- Peptide Label: isoform 9
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363436   ⟸   NM_001376507
- Peptide Label: isoform 3
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363441   ⟸   NM_001376512
- Peptide Label: isoform 8
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363439   ⟸   NM_001376510
- Peptide Label: isoform 6
- UniProtKB: Q69YR0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000431120   ⟸   ENST00000466507
RefSeq Acc Id: ENSP00000430280   ⟸   ENST00000481976
RefSeq Acc Id: ENSP00000428622   ⟸   ENST00000522399
RefSeq Acc Id: ENSP00000430385   ⟸   ENST00000522821
RefSeq Acc Id: ENSP00000355621   ⟸   ENST00000366661
RefSeq Acc Id: ENSP00000355622   ⟸   ENST00000366662
RefSeq Acc Id: ENSP00000428447   ⟸   ENST00000486879
RefSeq Acc Id: XP_047286262   ⟸   XM_047430306
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286269   ⟸   XM_047430313
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286288   ⟸   XM_047430332
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054194690   ⟸   XM_054338715
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054194689   ⟸   XM_054338714
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054194687   ⟸   XM_054338712
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054194685   ⟸   XM_054338710
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054194684   ⟸   XM_054338709
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054194688   ⟸   XM_054338713
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194683   ⟸   XM_054338708
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054194682   ⟸   XM_054338707
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054194686   ⟸   XM_054338711
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194681   ⟸   XM_054338706
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054194680   ⟸   XM_054338705
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054194691   ⟸   XM_054338716
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054194692   ⟸   XM_054338717
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054194693   ⟸   XM_054338718
- Peptide Label: isoform X6

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NBP0-F1-model_v2 AlphaFold Q8NBP0 1-860 view protein structure

Promoters
RGD ID:6787124
Promoter ID:HG_KWN:7800
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:ENST00000366658,   NM_001122835,   NM_024525,   OTTHUMT00000092232,   OTTHUMT00000092233,   OTTHUMT00000092362,   OTTHUMT00000092639,   OTTHUMT00000092641,   OTTHUMT00000092642,   OTTHUMT00000092644,   UC009XFI.1,   UC009XFJ.1,   UC009XFK.1,   UC009XFL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361229,179,996 - 229,181,552 (-)MPROMDB
RGD ID:6859250
Promoter ID:EPDNEW_H2789
Type:initiation region
Name:TTC13_1
Description:tetratricopeptide repeat domain 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,978,847 - 230,978,907EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26204 AgrOrtholog
COSMIC TTC13 COSMIC
Ensembl Genes ENSG00000143643 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000366661 ENTREZGENE
  ENST00000366661.9 UniProtKB/Swiss-Prot
  ENST00000366662 ENTREZGENE
  ENST00000366662.8 UniProtKB/Swiss-Prot
  ENST00000466507.2 UniProtKB/TrEMBL
  ENST00000481976.6 UniProtKB/TrEMBL
  ENST00000486879.2 UniProtKB/TrEMBL
  ENST00000522399.1 UniProtKB/TrEMBL
  ENST00000522821.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143643 GTEx
HGNC ID HGNC:26204 ENTREZGENE
Human Proteome Map TTC13 Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79573 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79573 ENTREZGENE
PANTHER TETRATRICOPEPTIDE REPEAT PROTEIN 13 UniProtKB/Swiss-Prot
  TETRATRICOPEPTIDE REPEAT PROTEIN 13 UniProtKB/Swiss-Prot
  TETRATRICOPEPTIDE REPEAT PROTEIN 13 UniProtKB/TrEMBL
  TETRATRICOPEPTIDE REPEAT PROTEIN 13 UniProtKB/TrEMBL
Pfam TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931681 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NPL4 ENTREZGENE, UniProtKB/TrEMBL
  B1AQI1 ENTREZGENE
  B1AQI2 ENTREZGENE
  E5RG15_HUMAN UniProtKB/TrEMBL
  E5RHB3_HUMAN UniProtKB/TrEMBL
  E5RJP6_HUMAN UniProtKB/TrEMBL
  H0YB10_HUMAN UniProtKB/TrEMBL
  H0YBV3_HUMAN UniProtKB/TrEMBL
  Q69YR0 ENTREZGENE, UniProtKB/TrEMBL
  Q8IVP8 ENTREZGENE
  Q8NBI0 ENTREZGENE
  Q8NBP0 ENTREZGENE
  Q8ND20 ENTREZGENE
  TTC13_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B1AQI1 UniProtKB/Swiss-Prot
  B1AQI2 UniProtKB/Swiss-Prot
  Q8IVP8 UniProtKB/Swiss-Prot
  Q8NBI0 UniProtKB/Swiss-Prot
  Q8ND20 UniProtKB/Swiss-Prot