TTC21A (tetratricopeptide repeat domain 21A) - Rat Genome Database

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Gene: TTC21A (tetratricopeptide repeat domain 21A) Homo sapiens
Analyze
Symbol: TTC21A
Name: tetratricopeptide repeat domain 21A
RGD ID: 1348204
HGNC Page HGNC:30761
Description: Involved in flagellated sperm motility and spermatid development. Predicted to be located in cilium. Predicted to be part of intraciliary transport particle A. Implicated in spermatogenic failure 37.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686P18239; IFT139A; MGC156293; MGC70523; SPGF37; STI2; stress-inducible protein 2; testicular tissue protein Li 212; tetratricopeptide repeat protein 21A; Thm2; TPR domain containing STI2; TPR repeat protein 21A
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
GRCh38339,107,680 - 39,138,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl339,107,680 - 39,138,903 (+)EnsemblGRCh38hg38GRCh38
GRCh37339,149,171 - 39,180,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36339,124,156 - 39,155,398 (+)NCBINCBI36Build 36hg18NCBI36
Build 34339,124,198 - 39,155,394NCBI
Celera339,089,656 - 39,120,906 (+)NCBICelera
Cytogenetic Map3p22.2NCBI
HuRef339,191,073 - 39,222,318 (+)NCBIHuRef
CHM1_1339,100,229 - 39,131,478 (+)NCBICHM1_1
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)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

Molecular Function

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:12543795   PMID:14702039   PMID:16344560   PMID:21873635   PMID:24564958   PMID:25416956   PMID:27173435   PMID:28611215   PMID:29676528   PMID:30655611   PMID:30929735  
PMID:31812070   PMID:32167205   PMID:32296183   PMID:32393512   PMID:35920310   PMID:38151293  


Genomics

Comparative Map Data
TTC21A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38339,107,680 - 39,138,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl339,107,680 - 39,138,903 (+)EnsemblGRCh38hg38GRCh38
GRCh37339,149,171 - 39,180,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36339,124,156 - 39,155,398 (+)NCBINCBI36Build 36hg18NCBI36
Build 34339,124,198 - 39,155,394NCBI
Celera339,089,656 - 39,120,906 (+)NCBICelera
Cytogenetic Map3p22.2NCBI
HuRef339,191,073 - 39,222,318 (+)NCBIHuRef
CHM1_1339,100,229 - 39,131,478 (+)NCBICHM1_1
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBIT2T-CHM13v2.0
Ttc21a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399119,766,656 - 119,798,496 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9119,766,672 - 119,796,859 (+)EnsemblGRCm39 Ensembl
GRCm389119,937,589 - 119,969,430 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9119,937,606 - 119,967,793 (+)EnsemblGRCm38mm10GRCm38
MGSCv379119,846,724 - 119,876,911 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369119,786,304 - 119,816,491 (+)NCBIMGSCv36mm8
Celera9120,404,834 - 120,435,102 (+)NCBICelera
Cytogenetic Map9F4NCBI
cM Map971.33NCBI
Ttc21a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88128,544,684 - 128,580,464 (+)NCBIGRCr8
mRatBN7.28119,667,044 - 119,702,028 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8119,666,933 - 119,702,456 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.08128,622,414 - 128,657,199 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8128,622,428 - 128,657,955 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08127,824,105 - 127,858,427 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48124,895,329 - 124,929,673 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18124,916,314 - 124,949,410 (+)NCBI
Celera8118,813,990 - 118,848,613 (+)NCBICelera
Cytogenetic Map8q32NCBI
Ttc21a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542724,833,071 - 24,862,473 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542724,833,021 - 24,862,199 (-)NCBIChiLan1.0ChiLan1.0
TTC21A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2239,059,147 - 39,090,471 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1339,063,909 - 39,095,233 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0339,003,730 - 39,035,183 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1339,284,159 - 39,315,583 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl339,284,480 - 39,315,375 (+)Ensemblpanpan1.1panPan2
TTC21A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1238,776,252 - 8,812,480 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl238,781,582 - 8,811,031 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha238,816,088 - 8,848,339 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0239,065,036 - 9,097,061 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl239,065,022 - 9,097,060 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1238,878,708 - 8,910,708 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0239,020,973 - 9,053,234 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0239,014,406 - 9,046,449 (+)NCBIUU_Cfam_GSD_1.0
Ttc21a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118195,223,584 - 195,256,561 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647328,362,274 - 28,395,010 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647328,362,238 - 28,395,134 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC21A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1323,797,518 - 23,830,332 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11323,797,518 - 23,830,334 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21326,057,100 - 26,090,203 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTC21A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.115276,965 - 308,194 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl15277,078 - 308,194 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660639,004,096 - 9,035,461 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttc21a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247311,844,152 - 1,873,273 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247311,844,044 - 1,873,398 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTC21A
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033027.3(CSRNP1):c.1656C>T (p.Phe552=) single nucleotide variant Malignant melanoma [RCV000066056] Chr3:39143169 [GRCh38]
Chr3:39184660 [GRCh37]
Chr3:39159664 [NCBI36]
Chr3:3p22.2		 not provided
GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 copy number gain See cases [RCV000134924] Chr3:33728406..40662451 [GRCh38]
Chr3:33769898..40703942 [GRCh37]
Chr3:33744902..40678946 [NCBI36]
Chr3:3p22.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001366900.1(TTC21A):c.2119T>C (p.Tyr707His) single nucleotide variant Inborn genetic diseases [RCV003282380] Chr3:39129294 [GRCh38]
Chr3:39170785 [GRCh37]
Chr3:3p22.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001366900.1(TTC21A):c.2581C>T (p.Arg861Trp) single nucleotide variant Inborn genetic diseases [RCV003244760] Chr3:39133070 [GRCh38]
Chr3:39174561 [GRCh37]
Chr3:3p22.2		 uncertain significance
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys) single nucleotide variant Spermatogenic failure 37 [RCV000770963] Chr3:39110923 [GRCh38]
Chr3:39152414 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter) single nucleotide variant Spermatogenic failure 37 [RCV000770962] Chr3:39130347 [GRCh38]
Chr3:39171838 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001366900.1(TTC21A):c.716+1G>A single nucleotide variant Spermatogenic failure 37 [RCV000770961] Chr3:39114743 [GRCh38]
Chr3:39156234 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer) deletion Spermatogenic failure 37 [RCV000770964] Chr3:39131075 [GRCh38]
Chr3:39172566 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001366900.1(TTC21A):c.3095+5G>T single nucleotide variant Spermatogenic failure 37 [RCV000770965] Chr3:39136512 [GRCh38]
Chr3:39178003 [GRCh37]
Chr3:3p22.2		 pathogenic
NM_001366900.1(TTC21A):c.901T>A (p.Cys301Ser) single nucleotide variant Inborn genetic diseases [RCV003271724] Chr3:39120997 [GRCh38]
Chr3:39162488 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.50A>G (p.Gln17Arg) single nucleotide variant not provided [RCV001357825] Chr3:39109107 [GRCh38]
Chr3:39150598 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1431_1434del (p.Gln478fs) deletion Spermatogenic failure 37 [RCV001783921] Chr3:39126297..39126300 [GRCh38]
Chr3:39167788..39167791 [GRCh37]
Chr3:3p22.2		 likely pathogenic
NM_001366900.1(TTC21A):c.842C>T (p.Thr281Ile) single nucleotide variant Inborn genetic diseases [RCV003299019]|not provided [RCV001816342] Chr3:39119962 [GRCh38]
Chr3:39161453 [GRCh37]
Chr3:3p22.2		 uncertain significance
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1		 pathogenic
NM_001366900.1(TTC21A):c.3047G>A (p.Arg1016Gln) single nucleotide variant Inborn genetic diseases [RCV002991890] Chr3:39136459 [GRCh38]
Chr3:39177950 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1673A>G (p.Asn558Ser) single nucleotide variant Inborn genetic diseases [RCV002970421] Chr3:39128481 [GRCh38]
Chr3:39169972 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1655A>T (p.Glu552Val) single nucleotide variant Inborn genetic diseases [RCV002865757] Chr3:39128463 [GRCh38]
Chr3:39169954 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.406A>G (p.Met136Val) single nucleotide variant Inborn genetic diseases [RCV002733826] Chr3:39110988 [GRCh38]
Chr3:39152479 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2798A>C (p.Asp933Ala) single nucleotide variant Inborn genetic diseases [RCV002732060] Chr3:39134264 [GRCh38]
Chr3:39175755 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3850G>A (p.Glu1284Lys) single nucleotide variant TTC21A-related condition [RCV003926403]|not provided [RCV002512220] Chr3:39138609 [GRCh38]
Chr3:39180100 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.1943G>A (p.Gly648Asp) single nucleotide variant Inborn genetic diseases [RCV002733047] Chr3:39129118 [GRCh38]
Chr3:39170609 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1303A>T (p.Ile435Phe) single nucleotide variant Inborn genetic diseases [RCV002868254] Chr3:39125443 [GRCh38]
Chr3:39166934 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.766G>A (p.Val256Met) single nucleotide variant Inborn genetic diseases [RCV003000298] Chr3:39118118 [GRCh38]
Chr3:39159609 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.331A>T (p.Thr111Ser) single nucleotide variant Inborn genetic diseases [RCV002737736] Chr3:39110913 [GRCh38]
Chr3:39152404 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1265A>G (p.Lys422Arg) single nucleotide variant Inborn genetic diseases [RCV002910321] Chr3:39125405 [GRCh38]
Chr3:39166896 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3923G>A (p.Arg1308Gln) single nucleotide variant Inborn genetic diseases [RCV002845971] Chr3:39138769 [GRCh38]
Chr3:39180260 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001366900.1(TTC21A):c.3881C>T (p.Pro1294Leu) single nucleotide variant Inborn genetic diseases [RCV002781893] Chr3:39138727 [GRCh38]
Chr3:39180218 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3271A>G (p.Lys1091Glu) single nucleotide variant Inborn genetic diseases [RCV002691273] Chr3:39137208 [GRCh38]
Chr3:39178699 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3715G>A (p.Glu1239Lys) single nucleotide variant Inborn genetic diseases [RCV002925015] Chr3:39138306 [GRCh38]
Chr3:39179797 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1456G>A (p.Val486Ile) single nucleotide variant Inborn genetic diseases [RCV002926210] Chr3:39126324 [GRCh38]
Chr3:39167815 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.475A>G (p.Lys159Glu) single nucleotide variant Inborn genetic diseases [RCV002737777] Chr3:39112497 [GRCh38]
Chr3:39153988 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2284G>A (p.Gly762Arg) single nucleotide variant Inborn genetic diseases [RCV003004327] Chr3:39130323 [GRCh38]
Chr3:39171814 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1059G>A (p.Met353Ile) single nucleotide variant Inborn genetic diseases [RCV002666502] Chr3:39121155 [GRCh38]
Chr3:39162646 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.403C>A (p.Arg135Ser) single nucleotide variant Inborn genetic diseases [RCV002955127] Chr3:39110985 [GRCh38]
Chr3:39152476 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.604G>A (p.Val202Met) single nucleotide variant Inborn genetic diseases [RCV002699011] Chr3:39114630 [GRCh38]
Chr3:39156121 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2559C>A (p.Asn853Lys) single nucleotide variant Inborn genetic diseases [RCV002802850] Chr3:39131092 [GRCh38]
Chr3:39172583 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.118G>A (p.Val40Met) single nucleotide variant Inborn genetic diseases [RCV002954717] Chr3:39109175 [GRCh38]
Chr3:39150666 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1612T>C (p.Tyr538His) single nucleotide variant Inborn genetic diseases [RCV002873984] Chr3:39128420 [GRCh38]
Chr3:39169911 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1082C>G (p.Ala361Gly) single nucleotide variant Inborn genetic diseases [RCV002747602] Chr3:39121178 [GRCh38]
Chr3:39162669 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3551C>T (p.Pro1184Leu) single nucleotide variant Inborn genetic diseases [RCV002674666] Chr3:39137586 [GRCh38]
Chr3:39179077 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1721C>A (p.Ala574Asp) single nucleotide variant Inborn genetic diseases [RCV002897779] Chr3:39128757 [GRCh38]
Chr3:39170248 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1852A>G (p.Ile618Val) single nucleotide variant Inborn genetic diseases [RCV002703036] Chr3:39128888 [GRCh38]
Chr3:39170379 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3509T>A (p.Ile1170Asn) single nucleotide variant Inborn genetic diseases [RCV002714046] Chr3:39137544 [GRCh38]
Chr3:39179035 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.772G>A (p.Glu258Lys) single nucleotide variant Inborn genetic diseases [RCV002989012] Chr3:39118124 [GRCh38]
Chr3:39159615 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3211G>A (p.Glu1071Lys) single nucleotide variant Inborn genetic diseases [RCV002961247] Chr3:39137014 [GRCh38]
Chr3:39178505 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3643G>C (p.Glu1215Gln) single nucleotide variant Inborn genetic diseases [RCV002714048] Chr3:39137678 [GRCh38]
Chr3:39179169 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3738T>G (p.Asp1246Glu) single nucleotide variant Inborn genetic diseases [RCV002677993] Chr3:39138329 [GRCh38]
Chr3:39179820 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1720G>A (p.Ala574Thr) single nucleotide variant Inborn genetic diseases [RCV002724194] Chr3:39128756 [GRCh38]
Chr3:39170247 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.191G>A (p.Ser64Asn) single nucleotide variant Inborn genetic diseases [RCV003174481] Chr3:39110062 [GRCh38]
Chr3:39151553 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1037T>C (p.Leu346Ser) single nucleotide variant Inborn genetic diseases [RCV003180479] Chr3:39121133 [GRCh38]
Chr3:39162624 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001366900.1(TTC21A):c.3183G>A (p.Met1061Ile) single nucleotide variant Inborn genetic diseases [RCV003196318] Chr3:39136986 [GRCh38]
Chr3:39178477 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2135+3A>G single nucleotide variant not provided [RCV003223136] Chr3:39129313 [GRCh38]
Chr3:39170804 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.126G>C (p.Lys42Asn) single nucleotide variant Inborn genetic diseases [RCV003260696] Chr3:39109183 [GRCh38]
Chr3:39150674 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1879C>T (p.Arg627Trp) single nucleotide variant Inborn genetic diseases [RCV003190587] Chr3:39128915 [GRCh38]
Chr3:39170406 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3159G>C (p.Trp1053Cys) single nucleotide variant Inborn genetic diseases [RCV003191073] Chr3:39136962 [GRCh38]
Chr3:39178453 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1340C>T (p.Pro447Leu) single nucleotide variant Inborn genetic diseases [RCV003202029] Chr3:39125480 [GRCh38]
Chr3:39166971 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3360G>A (p.Arg1120=) single nucleotide variant not provided [RCV003327114] Chr3:39137297 [GRCh38]
Chr3:39178788 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001366900.1(TTC21A):c.2542G>C (p.Val848Leu) single nucleotide variant Inborn genetic diseases [RCV003345480] Chr3:39131075 [GRCh38]
Chr3:39172566 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2483A>C (p.Asn828Thr) single nucleotide variant Inborn genetic diseases [RCV003374432] Chr3:39131016 [GRCh38]
Chr3:39172507 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2015C>T (p.Ala672Val) single nucleotide variant Inborn genetic diseases [RCV003356302] Chr3:39129190 [GRCh38]
Chr3:39170681 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1880G>A (p.Arg627Gln) single nucleotide variant Inborn genetic diseases [RCV003365107] Chr3:39128916 [GRCh38]
Chr3:39170407 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3637G>A (p.Ala1213Thr) single nucleotide variant Inborn genetic diseases [RCV003347132] Chr3:39137672 [GRCh38]
Chr3:39179163 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1556G>A (p.Arg519His) single nucleotide variant Inborn genetic diseases [RCV003350968] Chr3:39128364 [GRCh38]
Chr3:39169855 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.3113A>G (p.Asn1038Ser) single nucleotide variant Inborn genetic diseases [RCV003354324] Chr3:39136916 [GRCh38]
Chr3:39178407 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.1284C>T (p.His428=) single nucleotide variant TTC21A-related condition [RCV003954181]|not provided [RCV003433523] Chr3:39125424 [GRCh38]
Chr3:39166915 [GRCh37]
Chr3:3p22.2		 benign|likely benign
NM_001366900.1(TTC21A):c.3025_3043del (p.Leu1009fs) deletion TTC21A-related condition [RCV003410845] Chr3:39136436..39136454 [GRCh38]
Chr3:39177927..39177945 [GRCh37]
Chr3:3p22.2		 likely pathogenic
NM_001366900.1(TTC21A):c.2939C>T (p.Ala980Val) single nucleotide variant not provided [RCV003885673] Chr3:39135169 [GRCh38]
Chr3:39176660 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.2741C>G (p.Thr914Ser) single nucleotide variant TTC21A-related condition [RCV003954532] Chr3:39133230 [GRCh38]
Chr3:39174721 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.272G>A (p.Arg91Gln) single nucleotide variant TTC21A-related condition [RCV003977339] Chr3:39110854 [GRCh38]
Chr3:39152345 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.2940G>A (p.Ala980=) single nucleotide variant TTC21A-related condition [RCV003978934] Chr3:39135170 [GRCh38]
Chr3:39176661 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.1948C>A (p.Pro650Thr) single nucleotide variant not provided [RCV003886203] Chr3:39129123 [GRCh38]
Chr3:39170614 [GRCh37]
Chr3:3p22.2		 uncertain significance
NM_001366900.1(TTC21A):c.2037C>T (p.Ile679=) single nucleotide variant TTC21A-related condition [RCV003907193] Chr3:39129212 [GRCh38]
Chr3:39170703 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.845G>A (p.Arg282Lys) single nucleotide variant TTC21A-related condition [RCV003982317] Chr3:39119965 [GRCh38]
Chr3:39161456 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.2135G>A (p.Arg712His) single nucleotide variant TTC21A-related condition [RCV003931806] Chr3:39129310 [GRCh38]
Chr3:39170801 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.3882C>T (p.Pro1294=) single nucleotide variant TTC21A-related condition [RCV003929608] Chr3:39138728 [GRCh38]
Chr3:39180219 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.3926G>A (p.Arg1309Lys) single nucleotide variant TTC21A-related condition [RCV003967412] Chr3:39138772 [GRCh38]
Chr3:39180263 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.853G>A (p.Glu285Lys) single nucleotide variant TTC21A-related condition [RCV003984610] Chr3:39119973 [GRCh38]
Chr3:39161464 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.1256C>A (p.Ala419Glu) single nucleotide variant TTC21A-related condition [RCV003914468] Chr3:39125396 [GRCh38]
Chr3:39166887 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.2676C>T (p.Tyr892=) single nucleotide variant TTC21A-related condition [RCV003931374] Chr3:39133165 [GRCh38]
Chr3:39174656 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.974A>G (p.Tyr325Cys) single nucleotide variant TTC21A-related condition [RCV003966753] Chr3:39121070 [GRCh38]
Chr3:39162561 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.38T>C (p.Ile13Thr) single nucleotide variant TTC21A-related condition [RCV003964171] Chr3:39109095 [GRCh38]
Chr3:39150586 [GRCh37]
Chr3:3p22.2		 likely benign
NM_001366900.1(TTC21A):c.2904G>A (p.Ala968=) single nucleotide variant TTC21A-related condition [RCV003933979] Chr3:39135134 [GRCh38]
Chr3:39176625 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.88G>T (p.Val30Leu) single nucleotide variant TTC21A-related condition [RCV003919649] Chr3:39109145 [GRCh38]
Chr3:39150636 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.3777T>C (p.His1259=) single nucleotide variant TTC21A-related condition [RCV003929656] Chr3:39138368 [GRCh38]
Chr3:39179859 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.1256C>T (p.Ala419Val) single nucleotide variant TTC21A-related condition [RCV003934277] Chr3:39125396 [GRCh38]
Chr3:39166887 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.3849T>C (p.Ile1283=) single nucleotide variant TTC21A-related condition [RCV003981941] Chr3:39138608 [GRCh38]
Chr3:39180099 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.3631G>A (p.Asp1211Asn) single nucleotide variant TTC21A-related condition [RCV003978946] Chr3:39137666 [GRCh38]
Chr3:39179157 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.1843C>T (p.Arg615Trp) single nucleotide variant TTC21A-related condition [RCV003972108] Chr3:39128879 [GRCh38]
Chr3:39170370 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.3380G>A (p.Arg1127Gln) single nucleotide variant TTC21A-related condition [RCV003979251] Chr3:39137317 [GRCh38]
Chr3:39178808 [GRCh37]
Chr3:3p22.2		 benign
NM_001366900.1(TTC21A):c.1505A>T (p.Gln502Leu) single nucleotide variant TTC21A-related condition [RCV003969092] Chr3:39126373 [GRCh38]
Chr3:39167864 [GRCh37]
Chr3:3p22.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4243
Count of miRNA genes:1061
Interacting mature miRNAs:1348
Transcripts:ENST00000301819, ENST00000425163, ENST00000430597, ENST00000431162, ENST00000431559, ENST00000440121, ENST00000459702, ENST00000460460, ENST00000465962, ENST00000466875, ENST00000471025, ENST00000472866, ENST00000473587, ENST00000479954, ENST00000481734, ENST00000490036, ENST00000490245, ENST00000493337, ENST00000493856
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
D3S4389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37339,148,464 - 39,148,669UniSTSGRCh37
Build 36339,123,468 - 39,123,673RGDNCBI36
Celera339,088,968 - 39,089,173RGD
Cytogenetic Map3p22.2UniSTS
HuRef339,190,385 - 39,190,590UniSTS


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 42 5 585 145 44 2 341 2 511 475 1 43
Low 2384 2664 1078 562 1590 403 3961 1716 3374 396 937 1101 171 1 1204 2398 5 2
Below cutoff 13 321 63 62 215 62 351 479 19 21 11 37 1 347 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA843452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB094952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000425163   ⟹   ENSP00000409299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,806 - 39,111,018 (+)Ensembl
RefSeq Acc Id: ENST00000430597   ⟹   ENSP00000405396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,729 - 39,138,859 (+)Ensembl
RefSeq Acc Id: ENST00000431162   ⟹   ENSP00000398211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,704 - 39,138,900 (+)Ensembl
RefSeq Acc Id: ENST00000431559   ⟹   ENSP00000395118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,730 - 39,119,968 (+)Ensembl
RefSeq Acc Id: ENST00000440121   ⟹   ENSP00000410882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,807 - 39,138,879 (+)Ensembl
RefSeq Acc Id: ENST00000459702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,743 - 39,119,669 (+)Ensembl
RefSeq Acc Id: ENST00000460460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,138,264 - 39,138,903 (+)Ensembl
RefSeq Acc Id: ENST00000465962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,136,197 - 39,137,027 (+)Ensembl
RefSeq Acc Id: ENST00000466875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,128,811 - 39,130,160 (+)Ensembl
RefSeq Acc Id: ENST00000471025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,129,092 - 39,130,428 (+)Ensembl
RefSeq Acc Id: ENST00000472866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,131,521 - 39,138,899 (+)Ensembl
RefSeq Acc Id: ENST00000473587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,130,966 - 39,134,585 (+)Ensembl
RefSeq Acc Id: ENST00000479954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,717 - 39,119,657 (+)Ensembl
RefSeq Acc Id: ENST00000481734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,132,975 - 39,134,860 (+)Ensembl
RefSeq Acc Id: ENST00000490036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,732 - 39,110,375 (+)Ensembl
RefSeq Acc Id: ENST00000490245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,136,732 - 39,137,793 (+)Ensembl
RefSeq Acc Id: ENST00000493337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,730 - 39,119,631 (+)Ensembl
RefSeq Acc Id: ENST00000493856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,132,721 - 39,138,902 (+)Ensembl
RefSeq Acc Id: ENST00000683103   ⟹   ENSP00000507739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl339,107,680 - 39,138,900 (+)Ensembl
RefSeq Acc Id: NM_001105513   ⟹   NP_001098983
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)RGD
Build 36339,124,156 - 39,155,398 (+)NCBI Archive
Celera339,089,656 - 39,120,906 (+)RGD
HuRef339,191,073 - 39,222,318 (+)ENTREZGENE
CHM1_1339,100,229 - 39,131,478 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366899   ⟹   NP_001353828
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366900   ⟹   NP_001353829
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145755   ⟹   NP_665698
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)RGD
Build 36339,124,156 - 39,155,398 (+)NCBI Archive
Celera339,089,656 - 39,120,906 (+)RGD
HuRef339,191,073 - 39,222,318 (+)ENTREZGENE
CHM1_1339,100,229 - 39,131,478 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159494
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159495
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159496
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264921   ⟹   XP_005264978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264922   ⟹   XP_005264979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264924   ⟹   XP_005264981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264925   ⟹   XP_005264982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264926   ⟹   XP_005264983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264927   ⟹   XP_005264984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,112,559 - 39,138,900 (+)NCBI
GRCh37339,149,152 - 39,180,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713011   ⟹   XP_006713074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533447   ⟹   XP_011531749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533449   ⟹   XP_011531751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,131,095 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005843   ⟹   XP_016861332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453382   ⟹   XP_024309150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,131,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447647   ⟹   XP_047303603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
RefSeq Acc Id: XM_047447648   ⟹   XP_047303604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
RefSeq Acc Id: XM_047447649   ⟹   XP_047303605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
RefSeq Acc Id: XM_047447650   ⟹   XP_047303606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
RefSeq Acc Id: XM_047447651   ⟹   XP_047303607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,138,900 (+)NCBI
RefSeq Acc Id: XM_047447652   ⟹   XP_047303608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,137,704 (+)NCBI
RefSeq Acc Id: XM_047447653   ⟹   XP_047303609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,137,704 (+)NCBI
RefSeq Acc Id: XM_047447654   ⟹   XP_047303610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,137,060 (+)NCBI
RefSeq Acc Id: XM_054345584   ⟹   XP_054201559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345585   ⟹   XP_054201560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345586   ⟹   XP_054201561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345587   ⟹   XP_054201562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345588   ⟹   XP_054201563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345589   ⟹   XP_054201564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345590   ⟹   XP_054201565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345591   ⟹   XP_054201566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345592   ⟹   XP_054201567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345593   ⟹   XP_054201568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345594   ⟹   XP_054201569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345595   ⟹   XP_054201570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345596   ⟹   XP_054201571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345597   ⟹   XP_054201572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,149,880 (+)NCBI
RefSeq Acc Id: XM_054345598   ⟹   XP_054201573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,149,880 (+)NCBI
RefSeq Acc Id: XM_054345599   ⟹   XP_054201574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,124,723 - 39,151,076 (+)NCBI
RefSeq Acc Id: XM_054345600   ⟹   XP_054201575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,149,236 (+)NCBI
RefSeq Acc Id: XM_054345601   ⟹   XP_054201576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,143,821 (+)NCBI
RefSeq Acc Id: XM_054345602   ⟹   XP_054201577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0339,119,844 - 39,143,270 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001098983 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353829 (Get FASTA)   NCBI Sequence Viewer  
  NP_665698 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264978 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264979 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264981 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264982 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264983 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264984 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713074 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531749 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531751 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861332 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309150 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303603 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303604 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303605 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303606 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303607 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303608 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303609 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303610 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201562 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201563 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201564 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201565 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201566 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201567 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201568 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201569 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201570 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201571 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201572 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201573 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201574 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201575 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201577 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI29949 (Get FASTA)   NCBI Sequence Viewer  
  AEE61122 (Get FASTA)   NCBI Sequence Viewer  
  BAC04129 (Get FASTA)   NCBI Sequence Viewer  
  BAC05323 (Get FASTA)   NCBI Sequence Viewer  
  BAG61657 (Get FASTA)   NCBI Sequence Viewer  
  BAG63718 (Get FASTA)   NCBI Sequence Viewer  
  BAG63755 (Get FASTA)   NCBI Sequence Viewer  
  CAD31647 (Get FASTA)   NCBI Sequence Viewer  
  EAW64561 (Get FASTA)   NCBI Sequence Viewer  
  EAW64562 (Get FASTA)   NCBI Sequence Viewer  
  EAW64563 (Get FASTA)   NCBI Sequence Viewer  
  EAW64564 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000395118.1
  ENSP00000398211
  ENSP00000398211.2
  ENSP00000405396.2
  ENSP00000410882
  ENSP00000410882.1
  ENSP00000507739
  ENSP00000507739.1
GenBank Protein Q8NDW8 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001098983   ⟸   NM_001105513
- Peptide Label: isoform 1
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_665698   ⟸   NM_145755
- Peptide Label: isoform 2
- UniProtKB: Q8N7G5 (UniProtKB/Swiss-Prot),   Q6P5W8 (UniProtKB/Swiss-Prot),   D4PHA5 (UniProtKB/Swiss-Prot),   D3YTE7 (UniProtKB/Swiss-Prot),   B4DYJ3 (UniProtKB/Swiss-Prot),   B4DYF6 (UniProtKB/Swiss-Prot),   A1L388 (UniProtKB/Swiss-Prot),   Q8NA02 (UniProtKB/Swiss-Prot),   Q8NDW8 (UniProtKB/Swiss-Prot),   A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264978   ⟸   XM_005264921
- Peptide Label: isoform X1
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264979   ⟸   XM_005264922
- Peptide Label: isoform X2
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264981   ⟸   XM_005264924
- Peptide Label: isoform X6
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264983   ⟸   XM_005264926
- Peptide Label: isoform X11
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264982   ⟸   XM_005264925
- Peptide Label: isoform X7
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264984   ⟸   XM_005264927
- Peptide Label: isoform X16
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713074   ⟸   XM_006713011
- Peptide Label: isoform X4
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531749   ⟸   XM_011533447
- Peptide Label: isoform X5
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531751   ⟸   XM_011533449
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_016861332   ⟸   XM_017005843
- Peptide Label: isoform X13
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309150   ⟸   XM_024453382
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: NP_001353828   ⟸   NM_001366899
- Peptide Label: isoform 3
- UniProtKB: A0A140VJY5 (UniProtKB/TrEMBL),   A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353829   ⟸   NM_001366900
- Peptide Label: isoform 4
- UniProtKB: A0A804HK20 (UniProtKB/TrEMBL),   A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000409299   ⟸   ENST00000425163
RefSeq Acc Id: ENSP00000410882   ⟸   ENST00000440121
RefSeq Acc Id: ENSP00000405396   ⟸   ENST00000430597
RefSeq Acc Id: ENSP00000398211   ⟸   ENST00000431162
RefSeq Acc Id: ENSP00000395118   ⟸   ENST00000431559
RefSeq Acc Id: ENSP00000507739   ⟸   ENST00000683103
RefSeq Acc Id: XP_047303603   ⟸   XM_047447647
- Peptide Label: isoform X3
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303604   ⟸   XM_047447648
- Peptide Label: isoform X8
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303606   ⟸   XM_047447650
- Peptide Label: isoform X10
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303607   ⟸   XM_047447651
- Peptide Label: isoform X12
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303605   ⟸   XM_047447649
- Peptide Label: isoform X9
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303608   ⟸   XM_047447652
- Peptide Label: isoform X14
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303609   ⟸   XM_047447653
- Peptide Label: isoform X15
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303610   ⟸   XM_047447654
- Peptide Label: isoform X17
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201561   ⟸   XM_054345586
- Peptide Label: isoform X3
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201559   ⟸   XM_054345584
- Peptide Label: isoform X1
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201560   ⟸   XM_054345585
- Peptide Label: isoform X2
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201562   ⟸   XM_054345587
- Peptide Label: isoform X4
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201564   ⟸   XM_054345589
- Peptide Label: isoform X6
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201566   ⟸   XM_054345591
- Peptide Label: isoform X8
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201568   ⟸   XM_054345593
- Peptide Label: isoform X10
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201569   ⟸   XM_054345594
- Peptide Label: isoform X11
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201570   ⟸   XM_054345595
- Peptide Label: isoform X12
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201571   ⟸   XM_054345596
- Peptide Label: isoform X13
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201563   ⟸   XM_054345588
- Peptide Label: isoform X5
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201567   ⟸   XM_054345592
- Peptide Label: isoform X9
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201565   ⟸   XM_054345590
- Peptide Label: isoform X7
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201572   ⟸   XM_054345597
- Peptide Label: isoform X14
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201573   ⟸   XM_054345598
- Peptide Label: isoform X15
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201575   ⟸   XM_054345600
- Peptide Label: isoform X17
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201576   ⟸   XM_054345601
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054201577   ⟸   XM_054345602
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054201574   ⟸   XM_054345599
- Peptide Label: isoform X16
- UniProtKB: A0A0B4J1Y2 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NDW8-F1-model_v2 AlphaFold Q8NDW8 1-1320 view protein structure

Promoters
RGD ID:6863992
Promoter ID:EPDNEW_H5161
Type:initiation region
Name:TTC21A_1
Description:tetratricopeptide repeat domain 21A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38339,107,680 - 39,107,740EPDNEW
RGD ID:6801753
Promoter ID:HG_KWN:44471
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000301819,   NM_001105513,   NM_145755,   OTTHUMT00000342550,   OTTHUMT00000342551,   OTTHUMT00000342552,   UC003CJA.2,   UC003CJB.2,   UC003CJD.2,   UC010HHO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36339,123,191 - 39,123,691 (+)MPROMDB
RGD ID:6801838
Promoter ID:HG_KWN:44476
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000342558
Position:
Human AssemblyChrPosition (strand)Source
Build 36339,153,781 - 39,155,197 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30761 AgrOrtholog
COSMIC TTC21A COSMIC
Ensembl Genes ENSG00000168026 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000430597 ENTREZGENE
  ENST00000430597.6 UniProtKB/TrEMBL
  ENST00000431162 ENTREZGENE
  ENST00000431162.6 UniProtKB/Swiss-Prot
  ENST00000431559.5 UniProtKB/TrEMBL
  ENST00000440121 ENTREZGENE
  ENST00000440121.1 UniProtKB/Swiss-Prot
  ENST00000683103 ENTREZGENE
  ENST00000683103.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168026 GTEx
HGNC ID HGNC:30761 ENTREZGENE
Human Proteome Map TTC21A Human Proteome Map
InterPro TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TTC21A/TTC21B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:199223 UniProtKB/Swiss-Prot
NCBI Gene 199223 ENTREZGENE
OMIM 611430 OMIM
PANTHER PTHR14699 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TETRATRICOPEPTIDE REPEAT PROTEIN 21A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TPR_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915959 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J1Y2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0C4DH51_HUMAN UniProtKB/TrEMBL
  A0A140VJY5 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HK20 ENTREZGENE, UniProtKB/TrEMBL
  A1L388 ENTREZGENE
  B4DYF6 ENTREZGENE
  B4DYJ3 ENTREZGENE
  D3YTE7 ENTREZGENE
  D4PHA5 ENTREZGENE
  Q6P5W8 ENTREZGENE
  Q8N7G5 ENTREZGENE
  Q8NA02 ENTREZGENE
  Q8NDW8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A1L388 UniProtKB/Swiss-Prot
  B4DYF6 UniProtKB/Swiss-Prot
  B4DYJ3 UniProtKB/Swiss-Prot
  D3YTE7 UniProtKB/Swiss-Prot
  D4PHA5 UniProtKB/Swiss-Prot
  Q6P5W8 UniProtKB/Swiss-Prot
  Q8N7G5 UniProtKB/Swiss-Prot
  Q8NA02 UniProtKB/Swiss-Prot