TTC5 (tetratricopeptide repeat domain 5) - Rat Genome Database

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Gene: TTC5 (tetratricopeptide repeat domain 5) Homo sapiens
Analyze
Symbol: TTC5
Name: tetratricopeptide repeat domain 5
RGD ID: 1322658
HGNC Page HGNC:19274
Description: Enables ribosome binding activity. Involved in positive regulation of mRNA catabolic process. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: NEDCAFD; Strap; stress-responsive activator of p300; tetratricopeptide repeat protein 5; TPR repeat protein 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC006197.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381420,286,227 - 20,305,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1420,256,558 - 20,305,960 (-)EnsemblGRCh38hg38GRCh38
GRCh371420,754,386 - 20,774,110 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361419,827,144 - 19,843,976 (-)NCBINCBI36Build 36hg18NCBI36
Build 341419,827,143 - 19,843,976NCBI
Celera14618,437 - 635,301 (-)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef14879,432 - 896,309 (-)NCBIHuRef
CHM1_11420,758,235 - 20,775,107 (-)NCBICHM1_1
T2T-CHM13v2.01414,483,002 - 14,502,708 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytoplasmic vesicle  (IEA,ISS)
cytosol  (IDA,IEA,ISS)
mitochondrial matrix  (IEA)
mitochondrion  (IEA,ISS)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11511361   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17207965   PMID:19322201   PMID:21145461   PMID:21147850   PMID:23559008   PMID:24091941   PMID:25416956  
PMID:26186194   PMID:26344197   PMID:27634302   PMID:28514442   PMID:29568061   PMID:31515488   PMID:31648166   PMID:31727855   PMID:32296183   PMID:32439809   PMID:33961781   PMID:34947995  
PMID:35256949   PMID:35670379   PMID:35748872   PMID:35831314   PMID:36114006   PMID:36215168  


Genomics

Comparative Map Data
TTC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381420,286,227 - 20,305,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1420,256,558 - 20,305,960 (-)EnsemblGRCh38hg38GRCh38
GRCh371420,754,386 - 20,774,110 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361419,827,144 - 19,843,976 (-)NCBINCBI36Build 36hg18NCBI36
Build 341419,827,143 - 19,843,976NCBI
Celera14618,437 - 635,301 (-)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef14879,432 - 896,309 (-)NCBIHuRef
CHM1_11420,758,235 - 20,775,107 (-)NCBICHM1_1
T2T-CHM13v2.01414,483,002 - 14,502,708 (-)NCBIT2T-CHM13v2.0
Ttc5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391451,002,866 - 51,022,977 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1451,002,872 - 51,022,976 (-)EnsemblGRCm39 Ensembl
GRCm381450,765,409 - 50,785,520 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1450,765,415 - 50,785,519 (-)EnsemblGRCm38mm10GRCm38
MGSCv371451,385,090 - 51,405,193 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361449,697,406 - 49,707,446 (-)NCBIMGSCv36mm8
Celera1447,053,176 - 47,073,234 (-)NCBICelera
Cytogenetic Map14C1NCBI
cM Map1426.24NCBI
Ttc5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81526,466,613 - 26,484,269 (-)NCBIGRCr8
mRatBN7.21523,993,046 - 24,010,710 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1523,993,048 - 24,010,668 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1526,764,272 - 26,781,856 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01527,722,902 - 27,740,465 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01525,972,796 - 25,990,392 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01527,698,375 - 27,715,970 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1527,698,362 - 27,716,008 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01531,530,800 - 31,548,395 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41526,749,259 - 26,766,848 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11526,764,960 - 26,782,548 (-)NCBI
Celera1524,312,000 - 24,330,147 (-)NCBICelera
Cytogenetic Map15p14NCBI
Ttc5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555501,074,170 - 1,105,357 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555501,073,697 - 1,105,055 (-)NCBIChiLan1.0ChiLan1.0
TTC5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21521,795,330 - 21,815,184 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11421,011,312 - 21,031,670 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0141,163,280 - 1,180,212 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11419,214,337 - 19,233,797 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1419,216,993 - 19,233,797 (-)Ensemblpanpan1.1panPan2
TTC5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11517,653,008 - 17,670,231 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1517,638,462 - 17,670,575 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1518,137,305 - 18,155,363 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01517,910,664 - 17,929,053 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1517,910,691 - 17,929,008 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11517,594,498 - 17,612,265 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01517,648,692 - 17,666,694 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01517,777,371 - 17,795,817 (-)NCBIUU_Cfam_GSD_1.0
Ttc5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864077,515,241 - 77,539,652 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936877501,743 - 520,316 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936877504,406 - 520,295 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl778,578,294 - 78,600,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1778,578,247 - 78,600,794 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2783,606,604 - 83,626,652 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTC5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12920,809,004 - 20,825,918 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2920,808,945 - 20,826,111 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605925,595,832 - 25,612,685 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttc5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248254,863,028 - 4,900,363 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248254,863,610 - 4,923,164 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTC5
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 copy number gain See cases [RCV000050914] Chr14:20151149..23442195 [GRCh38]
Chr14:20619308..23911404 [GRCh37]
Chr14:19689148..22981244 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 copy number loss See cases [RCV000051483] Chr14:19755249..22741281 [GRCh38]
Chr14:20223408..23210490 [GRCh37]
Chr14:19293248..22280330 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 copy number gain See cases [RCV000053804] Chr14:20127290..21376436 [GRCh38]
Chr14:20595449..21844595 [GRCh37]
Chr14:19665289..20914435 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3 copy number gain See cases [RCV000136784] Chr14:20289246..20418076 [GRCh38]
Chr14:20757405..20886235 [GRCh37]
Chr14:19827245..19956075 [NCBI36]
Chr14:14q11.2		 benign
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2(chr14:20731947-20971784)x3 copy number gain not provided [RCV000750936] Chr14:20731947..20971784 [GRCh37]
Chr14:14q11.2		 benign
GRCh37/hg19 14q11.2(chr14:20743269-20969733)x3 copy number gain not provided [RCV000750937] Chr14:20743269..20969733 [GRCh37]
Chr14:14q11.2		 benign
GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3 copy number gain not provided [RCV000846276] Chr14:20511672..21174548 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3 copy number gain not provided [RCV000848234] Chr14:20511672..20903963 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.1046A>G (p.Glu349Gly) single nucleotide variant Inborn genetic diseases [RCV003289899] Chr14:20295324 [GRCh38]
Chr14:20763483 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1 copy number loss not provided [RCV001259176] Chr14:20511672..21915516 [GRCh37]
Chr14:14q11.2		 pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter) single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV001353190] Chr14:20295764 [GRCh38]
Chr14:20763923 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_138376.3(TTC5):c.629A>G (p.Tyr210Cys) single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV001353188] Chr14:20298807 [GRCh38]
Chr14:20766966 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_138376.3(TTC5):c.51+1G>A single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV001353187] Chr14:20305886 [GRCh38]
Chr14:20774045 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_138376.3(TTC5):c.692C>T (p.Ala231Val) single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV001353191] Chr14:20296394 [GRCh38]
Chr14:20764553 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_138376.3(TTC5):c.599del (p.Pro200fs) deletion Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV001353186] Chr14:20298837 [GRCh38]
Chr14:20766996 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter) single nucleotide variant Neurodevelopmental delay [RCV002274192]|Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV001353189] Chr14:20292003 [GRCh38]
Chr14:20760162 [GRCh37]
Chr14:14q11.2		 pathogenic|uncertain significance
NC_000014.9:g.20013858_20436718dup duplication 14q11.2 microduplication syndrome [RCV001837230] Chr14:20013858..20436718 [GRCh38]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:20664697-21017250) copy number gain not specified [RCV002053087] Chr14:20664697..21017250 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.1225C>T (p.Arg409Ter) single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV003151959] Chr14:20289725 [GRCh38]
Chr14:20757884 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_138376.3(TTC5):c.695C>T (p.Thr232Met) single nucleotide variant not provided [RCV002274712] Chr14:20296391 [GRCh38]
Chr14:20764550 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1 copy number loss not provided [RCV002474574] Chr14:20690196..23114522 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_138376.3(TTC5):c.139_140inv (p.Gln47Trp) inversion Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV002510674] Chr14:20301877..20301878 [GRCh38]
Chr14:20770036..20770037 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.1304C>T (p.Ser435Leu) single nucleotide variant Inborn genetic diseases [RCV002946866] Chr14:20289646 [GRCh38]
Chr14:20757805 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.5T>C (p.Met2Thr) single nucleotide variant Inborn genetic diseases [RCV002882401] Chr14:20305933 [GRCh38]
Chr14:20774092 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.890G>A (p.Arg297His) single nucleotide variant Inborn genetic diseases [RCV002703617] Chr14:20295480 [GRCh38]
Chr14:20763639 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.470A>G (p.His157Arg) single nucleotide variant Inborn genetic diseases [RCV002738370] Chr14:20299375 [GRCh38]
Chr14:20767534 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.538C>T (p.Arg180Cys) single nucleotide variant Inborn genetic diseases [RCV002712912] Chr14:20299307 [GRCh38]
Chr14:20767466 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.1000G>A (p.Gly334Ser) single nucleotide variant Inborn genetic diseases [RCV002826720] Chr14:20295370 [GRCh38]
Chr14:20763529 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.539G>A (p.Arg180His) single nucleotide variant Inborn genetic diseases [RCV002699901] Chr14:20299306 [GRCh38]
Chr14:20767465 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.826A>G (p.Ser276Gly) single nucleotide variant Inborn genetic diseases [RCV002674078] Chr14:20295725 [GRCh38]
Chr14:20763884 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.1286C>G (p.Ala429Gly) single nucleotide variant Inborn genetic diseases [RCV002748393] Chr14:20289664 [GRCh38]
Chr14:20757823 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.430A>G (p.Met144Val) single nucleotide variant Inborn genetic diseases [RCV002719561] Chr14:20299415 [GRCh38]
Chr14:20767574 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.448C>T (p.Arg150Trp) single nucleotide variant Inborn genetic diseases [RCV003184055] Chr14:20299397 [GRCh38]
Chr14:20767556 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.-6C>T single nucleotide variant not provided [RCV003326885] Chr14:20305943 [GRCh38]
Chr14:20774102 [GRCh37]
Chr14:14q11.2		 likely benign
NM_138376.3(TTC5):c.418C>T (p.Gln140Ter) single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV003334412] Chr14:20299427 [GRCh38]
Chr14:20767586 [GRCh37]
Chr14:14q11.2		 likely pathogenic|uncertain significance
NM_138376.3(TTC5):c.829C>T (p.Leu277Phe) single nucleotide variant Inborn genetic diseases [RCV003358650] Chr14:20295722 [GRCh38]
Chr14:20763881 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_138376.3(TTC5):c.954C>T (p.Thr318=) single nucleotide variant not provided [RCV003400566] Chr14:20295416 [GRCh38]
Chr14:20763575 [GRCh37]
Chr14:14q11.2		 likely benign
NM_138376.3(TTC5):c.811C>T (p.Leu271=) single nucleotide variant not provided [RCV003400567] Chr14:20295740 [GRCh38]
Chr14:20763899 [GRCh37]
Chr14:14q11.2		 likely benign
NM_138376.3(TTC5):c.612G>A (p.Gln204=) single nucleotide variant not provided [RCV003400568] Chr14:20298824 [GRCh38]
Chr14:20766983 [GRCh37]
Chr14:14q11.2		 likely benign
NM_138376.3(TTC5):c.926A>G (p.Tyr309Cys) single nucleotide variant not provided [RCV003411029] Chr14:20295444 [GRCh38]
Chr14:20763603 [GRCh37]
Chr14:14q11.2		 benign
NM_138376.3(TTC5):c.588T>G (p.Thr196=) single nucleotide variant not provided [RCV003411030] Chr14:20298848 [GRCh38]
Chr14:20767007 [GRCh37]
Chr14:14q11.2		 likely benign
NM_138376.3(TTC5):c.192C>G (p.Val64=) single nucleotide variant not provided [RCV003400569] Chr14:20300811 [GRCh38]
Chr14:20768970 [GRCh37]
Chr14:14q11.2		 likely benign
GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3 copy number gain not specified [RCV003987062] Chr14:20511672..20903963 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_138376.3(TTC5):c.79C>T (p.Arg27Ter) single nucleotide variant Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [RCV003986037] Chr14:20301938 [GRCh38]
Chr14:20770097 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_138376.3(TTC5):c.42G>C (p.Gln14His) single nucleotide variant TTC5-related condition [RCV003961376] Chr14:20305896 [GRCh38]
Chr14:20774055 [GRCh37]
Chr14:14q11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2763
Count of miRNA genes:1150
Interacting mature miRNAs:1416
Transcripts:ENST00000258821, ENST00000383029, ENST00000423949, ENST00000553828, ENST00000554157, ENST00000554992, ENST00000556592, ENST00000557379
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-153640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,762,849 - 20,763,169UniSTSGRCh37
Build 361419,832,689 - 19,833,009RGDNCBI36
Celera14623,997 - 624,317RGD
Cytogenetic Map14q11.2UniSTS
HuRef14884,992 - 885,312UniSTS
TNG Radiation Hybrid Map14151.0UniSTS
WI-18343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,757,316 - 20,757,465UniSTSGRCh37
Build 361419,827,156 - 19,827,305RGDNCBI36
Celera14618,464 - 618,613RGD
Cytogenetic Map14q11.2UniSTS
HuRef14879,459 - 879,608UniSTS
GeneMap99-GB4 RH Map143.33UniSTS
Whitehead-RH Map1432.4UniSTS
TTC5__5156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,757,222 - 20,757,904UniSTSGRCh37
Build 361419,827,062 - 19,827,744RGDNCBI36
Celera14618,369 - 619,052RGD
HuRef14879,364 - 880,047UniSTS


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 22 1 58 4 63 4 60 11 123 30 316 138 3 39
Low 2417 2854 1656 608 1760 449 4289 2170 3609 387 1143 1474 172 1 1204 2741 6 2
Below cutoff 136 12 12 128 12 8 16 2 2 1 1 8

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000258821   ⟹   ENSP00000258821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,286,227 - 20,305,951 (-)Ensembl
RefSeq Acc Id: ENST00000383029   ⟹   ENSP00000372496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,289,131 - 20,305,941 (-)Ensembl
RefSeq Acc Id: ENST00000553828   ⟹   ENSP00000451259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,300,809 - 20,305,960 (-)Ensembl
RefSeq Acc Id: ENST00000554157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,289,131 - 20,305,948 (-)Ensembl
RefSeq Acc Id: ENST00000554992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,260,584 - 20,261,614 (-)Ensembl
RefSeq Acc Id: ENST00000556592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,256,558 - 20,287,740 (-)Ensembl
RefSeq Acc Id: ENST00000557379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,300,337 - 20,305,953 (-)Ensembl
RefSeq Acc Id: NM_138376   ⟹   NP_612385
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381420,286,227 - 20,305,951 (-)NCBI
GRCh371420,757,290 - 20,774,153 (-)RGD
Build 361419,827,144 - 19,843,976 (-)NCBI Archive
Celera14618,437 - 635,301 (-)RGD
HuRef14879,432 - 896,309 (-)RGD
CHM1_11420,758,235 - 20,775,107 (-)NCBI
T2T-CHM13v2.01414,483,002 - 14,502,708 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_612385   ⟸   NM_138376
- UniProtKB: A8MQ18 (UniProtKB/Swiss-Prot),   Q96HF9 (UniProtKB/Swiss-Prot),   Q8N0Z6 (UniProtKB/Swiss-Prot),   Q86T04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000258821   ⟸   ENST00000258821
RefSeq Acc Id: ENSP00000451259   ⟸   ENST00000553828
RefSeq Acc Id: ENSP00000372496   ⟸   ENST00000383029
Protein Domains
Tetratricopeptide repeat protein 5 OB fold

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N0Z6-F1-model_v2 AlphaFold Q8N0Z6 1-440 view protein structure

Promoters
RGD ID:6791971
Promoter ID:HG_KWN:18750
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:ENST00000383029,   OTTHUMT00000073530,   UC001VWU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361419,843,644 - 19,844,144 (-)MPROMDB
RGD ID:7226943
Promoter ID:EPDNEW_H19217
Type:multiple initiation site
Name:TTC5_1
Description:tetratricopeptide repeat domain 5
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
GRCh381420,305,951 - 20,306,011EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19274 AgrOrtholog
COSMIC TTC5 COSMIC
Ensembl Genes ENSG00000136319 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291781 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258821 ENTREZGENE
  ENST00000258821.8 UniProtKB/Swiss-Prot
  ENST00000383029.7 UniProtKB/TrEMBL
  ENST00000553828.1 UniProtKB/TrEMBL
  ENST00000708730.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136319 GTEx
  ENSG00000291781 GTEx
HGNC ID HGNC:19274 ENTREZGENE
Human Proteome Map TTC5 Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TTC5_OB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TTC5_OB_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91875 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 91875 ENTREZGENE
OMIM 619014 OMIM
PANTHER TETRATRICOPEPTIDE REPEAT PROTEIN 5 UniProtKB/Swiss-Prot
  TETRATRICOPEPTIDE REPEAT PROTEIN 5 UniProtKB/Swiss-Prot
  TETRATRICOPEPTIDE REPEAT PROTEIN 5 UniProtKB/TrEMBL
  TETRATRICOPEPTIDE REPEAT PROTEIN 5 UniProtKB/TrEMBL
Pfam TTC5_OB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134919164 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MQ18 ENTREZGENE
  G3V3I6_HUMAN UniProtKB/TrEMBL
  H9KV81_HUMAN UniProtKB/TrEMBL
  Q86T04 ENTREZGENE, UniProtKB/TrEMBL
  Q8N0Z6 ENTREZGENE
  Q96HF9 ENTREZGENE
  TTC5_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MQ18 UniProtKB/Swiss-Prot
  Q96HF9 UniProtKB/Swiss-Prot