TENT5A (terminal nucleotidyltransferase 5A) - Rat Genome Database

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Gene: TENT5A (terminal nucleotidyltransferase 5A) Homo sapiens
Analyze
Symbol: TENT5A
Name: terminal nucleotidyltransferase 5A
RGD ID: 1604353
HGNC Page HGNC:18345
Description: Enables poly(A) RNA polymerase activity. Predicted to be involved in mRNA stabilization; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within response to bacterium. Predicted to be located in cytoplasm. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C6orf37; FAM46A; family with sequence similarity 46 member A; family with sequence similarity 46, member A; FLJ20037; FLJ31495; HBV X-transactivated gene 11 protein; HBV XAg-transactivated protein 11; hypothetical protein LOC55603; OI18; putative nucleotidyltransferase FAM46A; retinal expressed gene C6orf37; XTP11
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
GRCh38681,745,730 - 81,752,681 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl681,491,439 - 81,752,774 (-)EnsemblGRCh38hg38GRCh38
GRCh37682,455,447 - 82,462,398 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36682,512,166 - 82,519,147 (-)NCBINCBI36Build 36hg18NCBI36
Celera682,878,343 - 82,885,324 (-)NCBICelera
Cytogenetic Map6q14.1NCBI
HuRef679,672,933 - 79,679,910 (-)NCBIHuRef
CHM1_1682,553,088 - 82,560,049 (-)NCBICHM1_1
T2T-CHM13v2.0682,955,095 - 82,962,045 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
etoposide  (EXP)
fipronil  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
inulin  (ISO)
leflunomide  (EXP,ISO)
lidocaine  (ISO)
methamphetamine  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
niclosamide  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
torcetrapib  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6. Etokebe GE, etal., J Orthop Res. 2015 Jan;33(1):56-62. doi: 10.1002/jor.22738. Epub 2014 Sep 18.
2. Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations. Etokebe GE, etal., PLoS One. 2015 Apr 17;10(4):e0122651. doi: 10.1371/journal.pone.0122651. eCollection 2015.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12054608   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16344560   PMID:16545789   PMID:16713569   PMID:16924696   PMID:17207965   PMID:17803723  
PMID:19322201   PMID:20734064   PMID:20881960   PMID:21810271   PMID:21873635   PMID:21988832   PMID:22658674   PMID:22976474   PMID:23275563   PMID:23291589   PMID:23563607   PMID:23972371  
PMID:24625963   PMID:25814554   PMID:26496610   PMID:26993346   PMID:27060136   PMID:28514442   PMID:29234017   PMID:29358272   PMID:32296183   PMID:32513696   PMID:32814053   PMID:33370626  
PMID:33882302   PMID:33961781   PMID:35137485   PMID:35906200   PMID:36688959   PMID:37141460  


Genomics

Comparative Map Data
TENT5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38681,745,730 - 81,752,681 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl681,491,439 - 81,752,774 (-)EnsemblGRCh38hg38GRCh38
GRCh37682,455,447 - 82,462,398 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36682,512,166 - 82,519,147 (-)NCBINCBI36Build 36hg18NCBI36
Celera682,878,343 - 82,885,324 (-)NCBICelera
Cytogenetic Map6q14.1NCBI
HuRef679,672,933 - 79,679,910 (-)NCBIHuRef
CHM1_1682,553,088 - 82,560,049 (-)NCBICHM1_1
T2T-CHM13v2.0682,955,095 - 82,962,045 (-)NCBIT2T-CHM13v2.0
Tent5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39985,202,492 - 85,209,203 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl985,202,492 - 85,209,401 (-)EnsemblGRCm39 Ensembl
GRCm38985,320,439 - 85,327,150 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl985,320,439 - 85,327,348 (-)EnsemblGRCm38mm10GRCm38
MGSCv37985,214,046 - 85,220,757 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36985,117,157 - 85,124,012 (-)NCBIMGSCv36mm8
Celera982,403,616 - 82,410,396 (-)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map946.04NCBI
Tent5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8895,102,349 - 95,109,100 (-)NCBIGRCr8
mRatBN7.2886,222,294 - 86,229,045 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl886,225,357 - 86,229,045 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx891,880,503 - 91,884,196 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0890,079,943 - 90,083,636 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0887,932,331 - 87,936,024 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0892,935,474 - 92,942,267 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl892,937,739 - 92,942,076 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0892,448,628 - 92,455,379 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4890,502,441 - 90,506,129 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1890,522,538 - 90,525,616 (-)NCBI
Celera885,847,174 - 85,850,862 (-)NCBICelera
Cytogenetic Map8q31NCBI
Tent5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554119,699,011 - 9,701,507 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554119,695,149 - 9,701,463 (-)NCBIChiLan1.0ChiLan1.0
TENT5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25101,840,559 - 101,847,729 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1699,719,648 - 99,726,814 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0679,636,412 - 79,643,444 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1682,901,079 - 82,908,072 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl682,901,079 - 82,908,072 (-)Ensemblpanpan1.1panPan2
TENT5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11242,270,029 - 42,277,905 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1242,274,000 - 42,277,513 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1242,148,920 - 42,156,806 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01243,037,950 - 43,045,845 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1243,041,928 - 43,044,620 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11242,349,866 - 42,357,748 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01242,326,251 - 42,334,268 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01242,481,165 - 42,489,053 (-)NCBIUU_Cfam_GSD_1.0
Tent5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494677,649,982 - 77,656,958 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365108,814,292 - 8,816,929 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365108,813,977 - 8,820,909 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TENT5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl184,545,202 - 84,552,134 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1184,545,033 - 84,552,138 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2195,104,279 - 95,111,386 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TENT5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1136,392,131 - 6,399,456 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl136,392,025 - 6,398,564 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040182,632,569 - 182,640,200 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tent5a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479912,829,528 - 12,834,511 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479912,829,562 - 12,836,850 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TENT5A
100 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
GRCh38/hg38 6q14.1-14.2(chr6:78912019-84096427)x1 copy number loss See cases [RCV000137752] Chr6:78912019..84096427 [GRCh38]
Chr6:79621736..84806146 [GRCh37]
Chr6:79678455..84862865 [NCBI36]
Chr6:6q14.1-14.2		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[3] (p.26DFGGG[3]) microsatellite not provided [RCV001683489]|not specified [RCV000455256] Chr6:81752011..81752025 [GRCh38]
Chr6:82461728..82461742 [GRCh37]
Chr6:6q14.1		 benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_017633.3(TENT5A):c.127G>C (p.Gly43Arg) single nucleotide variant Inborn genetic diseases [RCV003294899] Chr6:81752015 [GRCh38]
Chr6:82461732 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.612_613dup (p.Ser205fs) microsatellite Osteogenesis imperfecta, type 18 [RCV000626325] Chr6:81750410..81750411 [GRCh38]
Chr6:82460127..82460128 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly) single nucleotide variant Osteogenesis imperfecta, type 18 [RCV000626327] Chr6:81750332 [GRCh38]
Chr6:82460049 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_017633.3(TENT5A):c.380A>G (p.His127Arg) single nucleotide variant Osteogenesis imperfecta, type 18 [RCV000626326] Chr6:81751762 [GRCh38]
Chr6:82461479 [GRCh37]
Chr6:6q14.1		 pathogenic
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 copy number loss not provided [RCV000682681] Chr6:73674612..84829774 [GRCh37]
Chr6:6q13-14.2		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_017633.3(TENT5A):c.236G>A (p.Ser79Asn) single nucleotide variant not provided [RCV000881296] Chr6:81751906 [GRCh38]
Chr6:82461623 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5]) microsatellite Osteogenesis imperfecta, type 18 [RCV001731988]|not provided [RCV000948737]|not specified [RCV001580070] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_017633.3(TENT5A):c.1236A>G (p.Ala412=) single nucleotide variant TENT5A-related condition [RCV003923300]|not provided [RCV000923264] Chr6:81749788 [GRCh38]
Chr6:82459505 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) single nucleotide variant Esophageal atresia [RCV000984644] Chr6:81752078 [GRCh38]
Chr6:82461795 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg) single nucleotide variant Esophageal atresia [RCV000984645] Chr6:81752077 [GRCh38]
Chr6:82461794 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) single nucleotide variant Esophageal atresia [RCV000984646] Chr6:81752116 [GRCh38]
Chr6:82461833 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.74G>A (p.Gly25Asp) single nucleotide variant not provided [RCV000965016] Chr6:81752068 [GRCh38]
Chr6:82461785 [GRCh37]
Chr6:6q14.1		 benign
GRCh37/hg19 6q14.1(chr6:78216253-82753743)x3 copy number gain not provided [RCV000846973] Chr6:78216253..82753743 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.511G>C (p.Glu171Gln) single nucleotide variant Inborn genetic diseases [RCV003290870] Chr6:81751631 [GRCh38]
Chr6:82461348 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.339T>C (p.Ile113=) single nucleotide variant not provided [RCV001641164] Chr6:81751803 [GRCh38]
Chr6:82461520 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.366C>T (p.Gly122=) single nucleotide variant not provided [RCV000909200] Chr6:81751776 [GRCh38]
Chr6:82461493 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.335G>T (p.Arg112Leu) single nucleotide variant TENT5A-related condition [RCV003955917]|not provided [RCV000886288] Chr6:81751807 [GRCh38]
Chr6:82461524 [GRCh37]
Chr6:6q14.1		 benign|likely benign|uncertain significance
NM_017633.3(TENT5A):c.1230T>C (p.Tyr410=) single nucleotide variant not provided [RCV000917726] Chr6:81749794 [GRCh38]
Chr6:82459511 [GRCh37]
Chr6:6q14.1		 likely benign
GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3 copy number gain not provided [RCV002473804] Chr6:81087736..84200632 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[6] (p.26DFGGG[6]) microsatellite not provided [RCV001652696] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_017633.3(TENT5A):c.-37-50_-37-32del microsatellite not provided [RCV001708594] Chr6:81752210..81752228 [GRCh38]
Chr6:82461927..82461945 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.-16G>T single nucleotide variant not provided [RCV001616316] Chr6:81752157 [GRCh38]
Chr6:82461874 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.*66del deletion not provided [RCV001696148] Chr6:81749629 [GRCh38]
Chr6:82459346 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.790G>T (p.Val264Phe) single nucleotide variant Osteogenesis imperfecta, type 18 [RCV001330963]|not provided [RCV002242179] Chr6:81750234 [GRCh38]
Chr6:82459951 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[7] (p.26DFGGG[7]) microsatellite not provided [RCV001510228]|not specified [RCV003399270] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.-37-41C>T single nucleotide variant not provided [RCV001690733] Chr6:81752219 [GRCh38]
Chr6:82461936 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[2] (p.26DFGGG[2]) microsatellite not provided [RCV001511800] Chr6:81752011..81752040 [GRCh38]
Chr6:82461728..82461757 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.749dup (p.Met251fs) duplication Osteogenesis imperfecta, type 18 [RCV002244209] Chr6:81750274..81750275 [GRCh38]
Chr6:82459991..82459992 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.1292A>G (p.Gln431Arg) single nucleotide variant not provided [RCV002238172] Chr6:81749732 [GRCh38]
Chr6:82459449 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.1284C>T (p.Phe428=) single nucleotide variant TENT5A-related condition [RCV003971202]|not provided [RCV002238173] Chr6:81749740 [GRCh38]
Chr6:82459457 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_017633.3(TENT5A):c.1137C>T (p.Asn379=) single nucleotide variant not provided [RCV002238175] Chr6:81749887 [GRCh38]
Chr6:82459604 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.1065C>T (p.Leu355=) single nucleotide variant not provided [RCV002238176] Chr6:81749959 [GRCh38]
Chr6:82459676 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1048C>T (p.Arg350Cys) single nucleotide variant not provided [RCV002238177] Chr6:81749976 [GRCh38]
Chr6:82459693 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.1039T>C (p.Leu347=) single nucleotide variant not provided [RCV002238178] Chr6:81749985 [GRCh38]
Chr6:82459702 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.552+11C>T single nucleotide variant not provided [RCV002238186] Chr6:81751579 [GRCh38]
Chr6:82461296 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.417C>T (p.Asp139=) single nucleotide variant not provided [RCV002238188] Chr6:81751725 [GRCh38]
Chr6:82461442 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.356G>T (p.Arg119Leu) single nucleotide variant not provided [RCV002238189] Chr6:81751786 [GRCh38]
Chr6:82461503 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.334C>T (p.Arg112Cys) single nucleotide variant not provided [RCV002238190] Chr6:81751808 [GRCh38]
Chr6:82461525 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.321C>T (p.Arg107=) single nucleotide variant not provided [RCV002238191] Chr6:81751821 [GRCh38]
Chr6:82461538 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.316C>A (p.Arg106=) single nucleotide variant not provided [RCV002238192] Chr6:81751826 [GRCh38]
Chr6:82461543 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.147T>C (p.Gly49=) single nucleotide variant not provided [RCV002238200] Chr6:81751995 [GRCh38]
Chr6:82461712 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.143T>G (p.Phe48Cys) single nucleotide variant not provided [RCV002238201] Chr6:81751999 [GRCh38]
Chr6:82461716 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.139_141del (p.Ser47del) deletion not provided [RCV002238202] Chr6:81752001..81752003 [GRCh38]
Chr6:82461718..82461720 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.136_137insACTTCGGCGGCGGCG (p.26DFGGG[5]) microsatellite not provided [RCV002238203] Chr6:81752005..81752006 [GRCh38]
Chr6:82461722..82461723 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.136_137insACTTCGGCGGCGGCGACTTCGGCGGCGGCG (p.26DFGGG[6]) insertion not provided [RCV002238204] Chr6:81752005..81752006 [GRCh38]
Chr6:82461722..82461723 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.80_81insTGGCGGCGGCGACTT (p.26DFGGG[5]) insertion not provided [RCV002238214] Chr6:81752061..81752062 [GRCh38]
Chr6:82461778..82461779 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.74_75insTGACTTCGGCGGCGG (p.26DFGGG[5]) microsatellite not provided [RCV002238215] Chr6:81752067..81752068 [GRCh38]
Chr6:82461784..82461785 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.68T>G (p.Leu23Arg) single nucleotide variant not provided [RCV002238216] Chr6:81752074 [GRCh38]
Chr6:82461791 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.1325A>G (p.Asn442Ser) single nucleotide variant not provided [RCV002238171] Chr6:81749699 [GRCh38]
Chr6:82459416 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.1276C>T (p.Pro426Ser) single nucleotide variant not provided [RCV002238174] Chr6:81749748 [GRCh38]
Chr6:82459465 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.951T>C (p.Tyr317=) single nucleotide variant not provided [RCV002238179] Chr6:81750073 [GRCh38]
Chr6:82459790 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.918C>T (p.Pro306=) single nucleotide variant not provided [RCV002238180] Chr6:81750106 [GRCh38]
Chr6:82459823 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.897C>T (p.Leu299=) single nucleotide variant not provided [RCV002238181] Chr6:81750127 [GRCh38]
Chr6:82459844 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.829A>C (p.Asn277His) single nucleotide variant not provided [RCV002238182] Chr6:81750195 [GRCh38]
Chr6:82459912 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.822C>T (p.His274=) single nucleotide variant not provided [RCV002238183] Chr6:81750202 [GRCh38]
Chr6:82459919 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.780C>T (p.Ile260=) single nucleotide variant not provided [RCV002238184] Chr6:81750244 [GRCh38]
Chr6:82459961 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.696T>G (p.Ser232=) single nucleotide variant not provided [RCV002238185] Chr6:81750328 [GRCh38]
Chr6:82460045 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.516G>C (p.Gly172=) single nucleotide variant not provided [RCV002238187] Chr6:81751626 [GRCh38]
Chr6:82461343 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.283C>T (p.Leu95=) single nucleotide variant not provided [RCV002238193] Chr6:81751859 [GRCh38]
Chr6:82461576 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.282G>A (p.Glu94=) single nucleotide variant not provided [RCV002238194] Chr6:81751860 [GRCh38]
Chr6:82461577 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.228C>G (p.Gly76=) single nucleotide variant not provided [RCV002238195] Chr6:81751914 [GRCh38]
Chr6:82461631 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.227G>A (p.Gly76Asp) single nucleotide variant not provided [RCV002238196] Chr6:81751915 [GRCh38]
Chr6:82461632 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.225C>T (p.Asp75=) single nucleotide variant not provided [RCV002238197] Chr6:81751917 [GRCh38]
Chr6:82461634 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.198G>A (p.Leu66=) single nucleotide variant not provided [RCV002238198] Chr6:81751944 [GRCh38]
Chr6:82461661 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.168C>T (p.Cys56=) single nucleotide variant not provided [RCV002238199] Chr6:81751974 [GRCh38]
Chr6:82461691 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.136_137insACTTCGGCGGAGGCG (p.26DFGGG[5]) insertion not provided [RCV002238205] Chr6:81752005..81752006 [GRCh38]
Chr6:82461722..82461723 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.136_137insACTTCGGCGGTGGCA (p.Gly46delinsAspPheGlyGlyGlySer) insertion not provided [RCV002238206] Chr6:81752005..81752006 [GRCh38]
Chr6:82461722..82461723 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.136_137insACTTCGGCGGCGGCGACTTCGGCGGTGGCA (p.Gly46delinsAspPheGlyGlyGlyAspPheGlyGlyGlySer) insertion not provided [RCV002238207] Chr6:81752005..81752006 [GRCh38]
Chr6:82461722..82461723 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.137G>A (p.Gly46Asp) single nucleotide variant not provided [RCV002238208] Chr6:81752005 [GRCh38]
Chr6:82461722 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGTGG (p.26DFGGG[6]) insertion not provided [RCV002238209] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[8] (p.26DFGGG[8]) microsatellite TENT5A-related condition [RCV003916395]|not provided [RCV002238210] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.132T>C (p.Gly44=) single nucleotide variant not provided [RCV002238211] Chr6:81752010 [GRCh38]
Chr6:82461727 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.114_115insAGCGGCGACTTCGGC (p.Gly38_Gly39insSerGlyAspPheGly) insertion not provided [RCV002238212] Chr6:81752027..81752028 [GRCh38]
Chr6:82461744..82461745 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.87_88insCGCGACTTCGGCGGC (p.Gly29_Gly30insArgAspPheGlyGly) microsatellite not provided [RCV002238213] Chr6:81752054..81752055 [GRCh38]
Chr6:82461771..82461772 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys) single nucleotide variant Osteogenesis imperfecta, type 18 [RCV003108248] Chr6:81751938 [GRCh38]
Chr6:82461655 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1 copy number loss not provided [RCV001829197] Chr6:72799054..83275894 [GRCh37]
Chr6:6q13-14.1		 pathogenic
NC_000006.11:g.(?_82459412)_(82461858_?)dup duplication not provided [RCV003119770] Chr6:82459412..82461858 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.553-18T>C single nucleotide variant not provided [RCV002967827] Chr6:81750489 [GRCh38]
Chr6:82460206 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.327C>T (p.Ala109=) single nucleotide variant not provided [RCV003097515] Chr6:81751815 [GRCh38]
Chr6:82461532 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.131_132insCGGCGACTTAGGCGG (p.Gly45_Gly46insAspLeuGlyGlyGly) insertion not provided [RCV002996628] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.264C>T (p.Gly88=) single nucleotide variant not provided [RCV002726492] Chr6:81751878 [GRCh38]
Chr6:82461595 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.405G>A (p.Leu135=) single nucleotide variant not provided [RCV003013283] Chr6:81751737 [GRCh38]
Chr6:82461454 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.527AGA[1] (p.Lys177del) microsatellite not provided [RCV002971566] Chr6:81751610..81751612 [GRCh38]
Chr6:82461327..82461329 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1147A>T (p.Met383Leu) single nucleotide variant not provided [RCV002755289] Chr6:81749877 [GRCh38]
Chr6:82459594 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.131_132insCGGCGACTTCGGCGA (p.Gly45_Gly46insAspPheGlyAspGly) insertion not provided [RCV002862193] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[9] (p.Gly45_Gly46insAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGly) microsatellite not provided [RCV003075537] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.495G>C (p.Leu165=) single nucleotide variant not provided [RCV002623239] Chr6:81751647 [GRCh38]
Chr6:82461364 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.131_132insCGGCGACTTCCGCGG (p.Gly45_Gly46insAspPheArgGlyGly) insertion not provided [RCV002976302] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.40G>A (p.Glu14Lys) single nucleotide variant not provided [RCV003018851] Chr6:81752102 [GRCh38]
Chr6:82461819 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.394G>C (p.Asp132His) single nucleotide variant not provided [RCV002912641] Chr6:81751748 [GRCh38]
Chr6:82461465 [GRCh37]
Chr6:6q14.1		 benign
NM_017633.3(TENT5A):c.1315C>T (p.Leu439=) single nucleotide variant not provided [RCV002846196] Chr6:81749709 [GRCh38]
Chr6:82459426 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1049G>A (p.Arg350His) single nucleotide variant not provided [RCV002948732] Chr6:81749975 [GRCh38]
Chr6:82459692 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.131_132insCGGCGACTTCGGTGG (p.Gly45_Gly46insAspPheGlyGlyGly) insertion not provided [RCV002913372] Chr6:81752010..81752011 [GRCh38]
Chr6:82461727..82461728 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1128G>A (p.Gln376=) single nucleotide variant not provided [RCV002913895] Chr6:81749896 [GRCh38]
Chr6:82459613 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.760A>C (p.Thr254Pro) single nucleotide variant not provided [RCV003055161] Chr6:81750264 [GRCh38]
Chr6:82459981 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.32C>G (p.Ser11Cys) single nucleotide variant not provided [RCV002595089] Chr6:81752110 [GRCh38]
Chr6:82461827 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.318G>A (p.Arg106=) single nucleotide variant not provided [RCV002626944] Chr6:81751824 [GRCh38]
Chr6:82461541 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.255C>T (p.His85=) single nucleotide variant not provided [RCV002914617] Chr6:81751887 [GRCh38]
Chr6:82461604 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.368C>T (p.Ser123Leu) single nucleotide variant not provided [RCV003040314] Chr6:81751774 [GRCh38]
Chr6:82461491 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.312G>T (p.Val104=) single nucleotide variant not provided [RCV002595700] Chr6:81751830 [GRCh38]
Chr6:82461547 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1160G>A (p.Arg387Gln) single nucleotide variant not provided [RCV003055895] Chr6:81749864 [GRCh38]
Chr6:82459581 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.976T>C (p.Phe326Leu) single nucleotide variant not provided [RCV002852607] Chr6:81750048 [GRCh38]
Chr6:82459765 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.214C>A (p.Gln72Lys) single nucleotide variant not provided [RCV002577276] Chr6:81751928 [GRCh38]
Chr6:82461645 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.80_81insTGGCGGCGGCGACTTCGGCGGCGGCGACTT (p.Gly45_Gly46insAspPheGlyGlyGlyAspPheGlyGlyGly) insertion not provided [RCV002716405] Chr6:81752061..81752062 [GRCh38]
Chr6:82461778..82461779 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.986T>C (p.Ile329Thr) single nucleotide variant not provided [RCV002811361] Chr6:81750038 [GRCh38]
Chr6:82459755 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.998A>G (p.Gln333Arg) single nucleotide variant not provided [RCV002580709] Chr6:81750026 [GRCh38]
Chr6:82459743 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.504del (p.Leu169fs) deletion not provided [RCV002857345] Chr6:81751638 [GRCh38]
Chr6:82461355 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.182C>G (p.Ala61Gly) single nucleotide variant not provided [RCV002895340] Chr6:81751960 [GRCh38]
Chr6:82461677 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.813C>A (p.Ala271=) single nucleotide variant not provided [RCV002806335] Chr6:81750211 [GRCh38]
Chr6:82459928 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.127_128insCCGGCGGCGACTTCG (p.Phe42_Gly43insAlaGlyGlyAspPhe) insertion not provided [RCV002630503] Chr6:81752014..81752015 [GRCh38]
Chr6:82461731..82461732 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV002938649] Chr6:81752094 [GRCh38]
Chr6:82461811 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.408C>T (p.Gly136=) single nucleotide variant not provided [RCV002630348] Chr6:81751734 [GRCh38]
Chr6:82461451 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1287G>A (p.Thr429=) single nucleotide variant not provided [RCV002583075] Chr6:81749737 [GRCh38]
Chr6:82459454 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.599G>A (p.Arg200Gln) single nucleotide variant not provided [RCV002584938] Chr6:81750425 [GRCh38]
Chr6:82460142 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.1044A>G (p.Glu348=) single nucleotide variant not provided [RCV002657905] Chr6:81749980 [GRCh38]
Chr6:82459697 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1078G>A (p.Gly360Arg) single nucleotide variant Inborn genetic diseases [RCV003374643] Chr6:81749946 [GRCh38]
Chr6:82459663 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.1003A>C (p.Lys335Gln) single nucleotide variant Inborn genetic diseases [RCV003383573] Chr6:81750021 [GRCh38]
Chr6:82459738 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.553-21_553-17del deletion not provided [RCV003694391] Chr6:81750488..81750492 [GRCh38]
Chr6:82460205..82460209 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.228C>T (p.Gly76=) single nucleotide variant not provided [RCV003548737] Chr6:81751914 [GRCh38]
Chr6:82461631 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.552+8C>G single nucleotide variant not provided [RCV003840381] Chr6:81751582 [GRCh38]
Chr6:82461299 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.868G>C (p.Gly290Arg) single nucleotide variant not provided [RCV003703752] Chr6:81750156 [GRCh38]
Chr6:82459873 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.348C>T (p.Arg116=) single nucleotide variant not provided [RCV003668852] Chr6:81751794 [GRCh38]
Chr6:82461511 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.464A>G (p.Gln155Arg) single nucleotide variant not provided [RCV003669023] Chr6:81751678 [GRCh38]
Chr6:82461395 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_017633.3(TENT5A):c.505T>C (p.Leu169=) single nucleotide variant not provided [RCV003813911] Chr6:81751637 [GRCh38]
Chr6:82461354 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.834G>A (p.Lys278=) single nucleotide variant not provided [RCV003565786] Chr6:81750190 [GRCh38]
Chr6:82459907 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.468T>C (p.Thr156=) single nucleotide variant not provided [RCV003556770] Chr6:81751674 [GRCh38]
Chr6:82461391 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1311T>G (p.Thr437=) single nucleotide variant not provided [RCV003552111] Chr6:81749713 [GRCh38]
Chr6:82459430 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.553-4G>A single nucleotide variant not provided [RCV003727270] Chr6:81750475 [GRCh38]
Chr6:82460192 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.183G>A (p.Ala61=) single nucleotide variant not provided [RCV003733325] Chr6:81751959 [GRCh38]
Chr6:82461676 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.157T>C (p.Leu53=) single nucleotide variant not provided [RCV003840593] Chr6:81751985 [GRCh38]
Chr6:82461702 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.1164G>A (p.Val388=) single nucleotide variant not provided [RCV003735562] Chr6:81749860 [GRCh38]
Chr6:82459577 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.297G>A (p.Leu99=) single nucleotide variant not provided [RCV003868852] Chr6:81751845 [GRCh38]
Chr6:82461562 [GRCh37]
Chr6:6q14.1		 likely benign
NM_017633.3(TENT5A):c.357C>T (p.Arg119=) single nucleotide variant not provided [RCV003554020] Chr6:81751785 [GRCh38]
Chr6:82461502 [GRCh37]
Chr6:6q14.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5767
Count of miRNA genes:1014
Interacting mature miRNAs:1232
Transcripts:ENST00000320172, ENST00000369754, ENST00000369756, ENST00000412306, ENST00000423467
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
RH18551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,458,163 - 82,458,264UniSTSGRCh37
Build 36682,514,882 - 82,514,983RGDNCBI36
Celera682,881,059 - 82,881,160RGD
Cytogenetic Map6q14UniSTS
HuRef679,675,649 - 79,675,750UniSTS
GeneMap99-GB4 RH Map6368.28UniSTS
WI-18234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,459,024 - 82,459,172UniSTSGRCh37
Build 36682,515,743 - 82,515,891RGDNCBI36
Celera682,881,920 - 82,882,068RGD
Cytogenetic Map6q14UniSTS
HuRef679,676,510 - 79,676,658UniSTS
GeneMap99-GB4 RH Map6364.91UniSTS
Whitehead-RH Map6539.3UniSTS
RH46837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,461,694 - 82,461,844UniSTSGRCh37
Build 36682,518,413 - 82,518,563RGDNCBI36
Celera682,884,590 - 82,884,740RGD
Cytogenetic Map6q14UniSTS
HuRef679,679,180 - 79,679,345UniSTS
GeneMap99-GB4 RH Map6368.28UniSTS
RH45697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,456,120 - 82,456,294UniSTSGRCh37
Build 36682,512,839 - 82,513,013RGDNCBI36
Celera682,879,016 - 82,879,190RGD
Cytogenetic Map6q14UniSTS
HuRef679,673,606 - 79,673,780UniSTS
GeneMap99-GB4 RH Map6368.33UniSTS
D6S1495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,457,411 - 82,457,514UniSTSGRCh37
Build 36682,514,130 - 82,514,233RGDNCBI36
Celera682,880,307 - 82,880,410RGD
Cytogenetic Map6q14UniSTS
HuRef679,674,897 - 79,675,000UniSTS
Whitehead-RH Map6512.6UniSTS
Whitehead-YAC Contig Map6 UniSTS
A008J23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,461,657 - 82,461,841UniSTSGRCh37
Build 36682,518,376 - 82,518,560RGDNCBI36
Celera682,884,553 - 82,884,737RGD
Cytogenetic Map6q14UniSTS
HuRef679,679,143 - 79,679,342UniSTS
GeneMap99-GB4 RH Map6367.68UniSTS
RH1517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37682,455,512 - 82,455,708UniSTSGRCh37
Build 36682,512,231 - 82,512,427RGDNCBI36
Celera682,878,408 - 82,878,604RGD
Cytogenetic Map6q14UniSTS
HuRef679,672,998 - 79,673,194UniSTS
GeneMap99-GB4 RH Map6360.2UniSTS


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 pharyngeal arch
High
Medium 1113 1924 1144 365 561 221 2737 535 1001 122 809 1211 154 736 1694 3
Low 1318 1052 579 257 1297 243 1605 1643 2582 291 638 386 17 468 1082 1
Below cutoff 1 12 1 1 33 13 13 130 3 5 10 12 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_056210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF350451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI131001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY740520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA981608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ211061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF878392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF878393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320172   ⟹   ENSP00000318298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl681,745,730 - 81,752,681 (-)Ensembl
RefSeq Acc Id: ENST00000369754   ⟹   ENSP00000358769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl681,745,730 - 81,752,708 (-)Ensembl
RefSeq Acc Id: ENST00000369756   ⟹   ENSP00000358771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl681,745,730 - 81,752,774 (-)Ensembl
RefSeq Acc Id: ENST00000412306   ⟹   ENSP00000401884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl681,491,439 - 81,751,812 (-)Ensembl
RefSeq Acc Id: ENST00000423467   ⟹   ENSP00000404872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl681,749,870 - 81,751,753 (-)Ensembl
RefSeq Acc Id: NM_017633   ⟹   NP_060103
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38681,745,730 - 81,752,681 (-)NCBI
GRCh37682,366,829 - 82,462,607 (-)NCBI
Build 36682,512,166 - 82,519,147 (-)NCBI Archive
Celera682,878,343 - 82,885,324 (-)RGD
HuRef679,672,933 - 79,679,910 (-)RGD
CHM1_1682,553,088 - 82,560,049 (-)NCBI
T2T-CHM13v2.0682,955,095 - 82,962,045 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060103   ⟸   NM_017633
- UniProtKB: Q9BW32 (UniProtKB/Swiss-Prot),   Q8NFZ9 (UniProtKB/Swiss-Prot),   Q5TF86 (UniProtKB/Swiss-Prot),   A8K7U4 (UniProtKB/Swiss-Prot),   Q9NXV5 (UniProtKB/Swiss-Prot),   Q96IP4 (UniProtKB/Swiss-Prot),   B6E614 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000404872   ⟸   ENST00000423467
RefSeq Acc Id: ENSP00000401884   ⟸   ENST00000412306
RefSeq Acc Id: ENSP00000318298   ⟸   ENST00000320172
RefSeq Acc Id: ENSP00000358769   ⟸   ENST00000369754
RefSeq Acc Id: ENSP00000358771   ⟸   ENST00000369756

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96IP4-F1-model_v2 AlphaFold Q96IP4 1-442 view protein structure

Promoters
RGD ID:7208567
Promoter ID:EPDNEW_H10030
Type:initiation region
Name:FAM46A_1
Description:family with sequence similarity 46 member A
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
GRCh38681,752,681 - 81,752,741EPDNEW
RGD ID:6804217
Promoter ID:HG_KWN:54199
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000041328,   OTTHUMT00000041329
Position:
Human AssemblyChrPosition (strand)Source
Build 36682,517,986 - 82,518,486 (-)MPROMDB
RGD ID:6804036
Promoter ID:HG_KWN:54200
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369754,   ENST00000369756,   ENST00000392940,   NM_017633,   UC003PJH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36682,519,001 - 82,519,967 (-)MPROMDB
RGD ID:6850900
Promoter ID:EP73246
Type:multiple initiation site
Name:HS_C6ORF37
Description:Chromosome 6 open reading frame 37.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36682,519,115 - 82,519,175EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18345 AgrOrtholog
COSMIC TENT5A COSMIC
Ensembl Genes ENSG00000112773 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320172 ENTREZGENE
  ENST00000320172.11 UniProtKB/Swiss-Prot
  ENST00000369754.7 UniProtKB/Swiss-Prot
  ENST00000369756.3 UniProtKB/TrEMBL
  ENST00000412306.1 UniProtKB/TrEMBL
  ENST00000423467.1 UniProtKB/TrEMBL
GTEx ENSG00000112773 GTEx
HGNC ID HGNC:18345 ENTREZGENE
Human Proteome Map TENT5A Human Proteome Map
InterPro TET5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55603 UniProtKB/Swiss-Prot
NCBI Gene 55603 ENTREZGENE
OMIM 611357 OMIM
PANTHER PTHR12974 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TERMINAL NUCLEOTIDYLTRANSFERASE 5A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NTP_transf_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38531 PharmGKB
SMART DUF1693 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K7U4 ENTREZGENE
  B6E614 ENTREZGENE, UniProtKB/TrEMBL
  H0Y5Y3_HUMAN UniProtKB/TrEMBL
  H0Y6D7_HUMAN UniProtKB/TrEMBL
  Q5TF85_HUMAN UniProtKB/TrEMBL
  Q5TF86 ENTREZGENE
  Q8NFZ9 ENTREZGENE
  Q96IP4 ENTREZGENE
  Q9BW32 ENTREZGENE
  Q9NXV5 ENTREZGENE
  TET5A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K7U4 UniProtKB/Swiss-Prot
  Q5TF86 UniProtKB/Swiss-Prot
  Q8NFZ9 UniProtKB/Swiss-Prot
  Q9BW32 UniProtKB/Swiss-Prot
  Q9NXV5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-04-24 TENT5A  terminal nucleotidyltransferase 5A  FAM46A  family with sequence similarity 46 member A  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM46A  family with sequence similarity 46 member A    family with sequence similarity 46, member A  Symbol and/or name change 5135510 APPROVED