TRAPPC10 (trafficking protein particle complex subunit 10) - Rat Genome Database

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Gene: TRAPPC10 (trafficking protein particle complex subunit 10) Homo sapiens
Analyze
Symbol: TRAPPC10
Name: trafficking protein particle complex subunit 10
RGD ID: 1322626
HGNC Page HGNC:11868
Description: Involved in intra-Golgi vesicle-mediated transport. Part of TRAPP complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EHOC-1; EHOC1; epilepsy holoprosencephaly candidate 1 protein; epilepsy holoprosencephaly candidate-1 protein; FLJ54223; FLJ54817; FLJ55683; GT334; MGC126777; NEDMISS; TMEM1; trafficking protein particle complex 10; trafficking protein particle complex subunit 130; trafficking protein particle complex subunit TMEM1; transmembrane protein 1; transport protein particle subunit TMEM1; TRAPP 130 kDa subunit; TRAPP subunit TMEM1; TRS130; TRS30
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,012,309 - 44,106,552 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,012,309 - 44,106,552 (+)EnsemblGRCh38hg38GRCh38
GRCh372145,432,190 - 45,526,433 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,256,634 - 44,350,861 (+)NCBINCBI36Build 36hg18NCBI36
Build 342144,256,633 - 44,350,858NCBI
Celera2130,537,856 - 30,632,073 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2130,802,706 - 30,896,716 (+)NCBIHuRef
CHM1_12144,993,075 - 45,087,324 (+)NCBICHM1_1
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. 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:7633421   PMID:8753807   PMID:8889548   PMID:9196060   PMID:9205129   PMID:9370297   PMID:10830953   PMID:11805826   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334  
PMID:17207965   PMID:20301702   PMID:20424473   PMID:21273506   PMID:21525244   PMID:21873635   PMID:22939629   PMID:23022380   PMID:24255178   PMID:25011556   PMID:25013050   PMID:26186194  
PMID:27066478   PMID:27173435   PMID:27684187   PMID:28319085   PMID:28514442   PMID:28986522   PMID:29117863   PMID:29507755   PMID:29568061   PMID:30209976   PMID:30833792   PMID:31091453  
PMID:31467083   PMID:31586073   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34709727   PMID:35271311   PMID:35298461   PMID:35384245   PMID:35831314   PMID:36215168  


Genomics

Comparative Map Data
TRAPPC10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,012,309 - 44,106,552 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,012,309 - 44,106,552 (+)EnsemblGRCh38hg38GRCh38
GRCh372145,432,190 - 45,526,433 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,256,634 - 44,350,861 (+)NCBINCBI36Build 36hg18NCBI36
Build 342144,256,633 - 44,350,858NCBI
Celera2130,537,856 - 30,632,073 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2130,802,706 - 30,896,716 (+)NCBIHuRef
CHM1_12144,993,075 - 45,087,324 (+)NCBICHM1_1
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBIT2T-CHM13v2.0
Trappc10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391078,021,256 - 78,080,479 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1078,022,559 - 78,080,475 (-)EnsemblGRCm39 Ensembl
GRCm381078,185,422 - 78,244,645 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1078,186,725 - 78,244,641 (-)EnsemblGRCm38mm10GRCm38
MGSCv371077,649,470 - 77,707,387 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361077,589,854 - 77,647,771 (-)NCBIMGSCv36mm8
MGSCv361078,636,349 - 78,694,899 (-)NCBIMGSCv36mm8
Celera1079,218,441 - 79,266,801 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Trappc10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82010,438,404 - 10,498,740 (+)NCBIGRCr8
mRatBN7.22010,438,737 - 10,499,074 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2010,438,737 - 10,499,074 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2011,138,619 - 11,198,081 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02010,499,518 - 10,558,974 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02010,971,004 - 11,031,340 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02011,168,298 - 11,228,634 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2011,168,298 - 11,228,625 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02013,338,328 - 13,398,197 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42010,774,972 - 10,833,551 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12010,775,337 - 10,833,373 (+)NCBI
Celera2011,945,494 - 12,005,453 (+)NCBICelera
Cytogenetic Map20p12NCBI
Trappc10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540741,271,526 - 41,347,850 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540741,271,526 - 41,347,850 (-)NCBIChiLan1.0ChiLan1.0
TRAPPC10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22240,019,092 - 40,113,755 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12134,869,578 - 34,963,931 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02130,269,085 - 30,363,396 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12143,585,857 - 43,659,760 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2143,581,617 - 43,656,740 (+)Ensemblpanpan1.1panPan2
TRAPPC10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13137,910,480 - 37,999,559 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3137,910,322 - 37,997,188 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3137,068,172 - 37,157,166 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03137,458,321 - 37,547,367 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3137,458,042 - 37,544,610 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13137,325,478 - 37,414,482 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03137,309,419 - 37,398,424 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03137,804,185 - 37,893,214 (+)NCBIUU_Cfam_GSD_1.0
Trappc10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497137,138,518 - 37,203,107 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936500264,644 - 329,355 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936500264,716 - 317,419 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRAPPC10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13206,936,333 - 207,013,102 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113206,936,311 - 207,013,112 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TRAPPC10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1287,760,813 - 87,856,630 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl287,761,479 - 87,857,418 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605415,849,538 - 15,947,486 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trappc10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474529,961,054 - 30,031,113 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474529,959,237 - 30,031,074 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRAPPC10
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_003274.4(TRAPPC10):c.2948G>A (p.Gly983Asp) single nucleotide variant Malignant melanoma [RCV000072858] Chr21:44092000 [GRCh38]
Chr21:45511881 [GRCh37]
Chr21:44336309 [NCBI36]
Chr21:21q22.3		 not provided
NM_003274.5(TRAPPC10):c.2929A>G (p.Ser977Gly) single nucleotide variant not provided [RCV000122505] Chr21:44091981 [GRCh38]
Chr21:45511862 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3670C>T (p.Pro1224Ser) single nucleotide variant not provided [RCV001812923] Chr21:44103421 [GRCh38]
Chr21:45523302 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) single nucleotide variant Intellectual disability [RCV001291083]|Neurodevelopmental disorder with microcephaly, short stature, and speech delay [RCV002281648] Chr21:44089849 [GRCh38]
Chr21:45509730 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 copy number loss See cases [RCV000240216] Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_43892908)_(45629566_?)dup duplication Primary ciliary dyskinesia [RCV000552378] Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44995057-45454894)x3 copy number gain See cases [RCV000446915] Chr21:44995057..45454894 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233)x1 copy number loss See cases [RCV000447458] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44891717-46043454)x1 copy number loss See cases [RCV000448917] Chr21:44891717..46043454 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3424A>G (p.Thr1142Ala) single nucleotide variant not specified [RCV004304412] Chr21:44102855 [GRCh38]
Chr21:45522736 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2554G>T (p.Ala852Ser) single nucleotide variant not specified [RCV004320723] Chr21:44087713 [GRCh38]
Chr21:45507594 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu) single nucleotide variant not specified [RCV004297009] Chr21:44074445 [GRCh38]
Chr21:45494326 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1396A>T (p.Ile466Phe) single nucleotide variant not specified [RCV004306090] Chr21:44077711 [GRCh38]
Chr21:45497592 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NC_000021.8:g.(?_44836602)_(45629566_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV001031043] Chr21:44836602..45629566 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44838120)_(45629566_?)del deletion Progressive myoclonic epilepsy [RCV001031044] Chr21:44838120..45629566 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44838120)_(45629566_?)dup duplication Developmental and epileptic encephalopathy, 30 [RCV003117708]|Progressive myoclonic epilepsy [RCV001032749] Chr21:44838120..45629566 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43892908)_(45629566_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV001346941]|Primary ciliary dyskinesia [RCV000802591] Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45429263-45583693)x3 copy number gain not provided [RCV000848163] Chr21:45429263..45583693 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45454893-45657195)x3 copy number gain not provided [RCV000847797] Chr21:45454893..45657195 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44735958-45448138)x3 copy number gain not provided [RCV000849244] Chr21:44735958..45448138 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45508754-45568690)x3 copy number gain not provided [RCV000848989] Chr21:45508754..45568690 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45429263-45583693)x3 copy number gain not provided [RCV000848124] Chr21:45429263..45583693 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_003274.5(TRAPPC10):c.1795G>A (p.Val599Met) single nucleotide variant not specified [RCV004300476] Chr21:44082859 [GRCh38]
Chr21:45502740 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.392A>T (p.Asp131Val) single nucleotide variant not specified [RCV004292350] Chr21:44052386 [GRCh38]
Chr21:45472267 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3441G>A (p.Met1147Ile) single nucleotide variant not specified [RCV004301776] Chr21:44102872 [GRCh38]
Chr21:45522753 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1539C>T (p.Gly513=) single nucleotide variant not provided [RCV000958123] Chr21:44079633 [GRCh38]
Chr21:45499514 [GRCh37]
Chr21:21q22.3		 benign
NM_003274.5(TRAPPC10):c.2769+9G>T single nucleotide variant not provided [RCV000958139] Chr21:44087937 [GRCh38]
Chr21:45507818 [GRCh37]
Chr21:21q22.3		 benign
NM_003274.5(TRAPPC10):c.480C>A (p.Asp160Glu) single nucleotide variant not specified [RCV004298673] Chr21:44052474 [GRCh38]
Chr21:45472355 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_003274.5(TRAPPC10):c.3222C>A (p.Cys1074Ter) single nucleotide variant TRAPPopathy microcephalic [RCV002254789] Chr21:44098410 [GRCh38]
Chr21:45518291 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45071606-45703897) copy number gain not specified [RCV002052742] Chr21:45071606..45703897 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233) copy number loss not specified [RCV002052743] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_003274.5(TRAPPC10):c.10T>C (p.Ser4Pro) single nucleotide variant not specified [RCV004312667] Chr21:44012503 [GRCh38]
Chr21:45432384 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.2671C>G (p.Leu891Val) single nucleotide variant not specified [RCV004328002] Chr21:44087830 [GRCh38]
Chr21:45507711 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_003274.5(TRAPPC10):c.3392del (p.Gly1131fs) AND NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, deletion NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES [RCV002281664] Chr21:44102822 [GRCh38]
Chr21:45522703 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_003274.5(TRAPPC10):c.121C>T (p.Leu41Phe) single nucleotide variant not specified [RCV004200277] Chr21:44032144 [GRCh38]
Chr21:45452025 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2691G>C (p.Met897Ile) single nucleotide variant not specified [RCV004200326] Chr21:44087850 [GRCh38]
Chr21:45507731 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1834A>G (p.Met612Val) single nucleotide variant not specified [RCV004215248] Chr21:44082898 [GRCh38]
Chr21:45502779 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.734A>G (p.Gln245Arg) single nucleotide variant not specified [RCV004113672] Chr21:44059158 [GRCh38]
Chr21:45479039 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45460343-45817256)x3 copy number gain not provided [RCV002475753] Chr21:45460343..45817256 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1124G>A (p.Arg375Gln) single nucleotide variant not specified [RCV004152017] Chr21:44074409 [GRCh38]
Chr21:45494290 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.394G>A (p.Ala132Thr) single nucleotide variant not specified [RCV004148950] Chr21:44052388 [GRCh38]
Chr21:45472269 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1666C>T (p.Arg556Cys) single nucleotide variant not specified [RCV004085407] Chr21:44080070 [GRCh38]
Chr21:45499951 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1235A>T (p.Asn412Ile) single nucleotide variant not specified [RCV004196641] Chr21:44075088 [GRCh38]
Chr21:45494969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2372C>T (p.Pro791Leu) single nucleotide variant not specified [RCV004158095] Chr21:44084255 [GRCh38]
Chr21:45504136 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1709C>T (p.Pro570Leu) single nucleotide variant not specified [RCV004213052] Chr21:44080113 [GRCh38]
Chr21:45499994 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2558C>T (p.Ala853Val) single nucleotide variant not specified [RCV004122631] Chr21:44087717 [GRCh38]
Chr21:45507598 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2744G>A (p.Arg915His) single nucleotide variant not specified [RCV004247276] Chr21:44087903 [GRCh38]
Chr21:45507784 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.2732A>G (p.Gln911Arg) single nucleotide variant not specified [RCV004190621] Chr21:44087891 [GRCh38]
Chr21:45507772 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2582A>G (p.Lys861Arg) single nucleotide variant not specified [RCV004134365] Chr21:44087741 [GRCh38]
Chr21:45507622 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3413C>G (p.Ala1138Gly) single nucleotide variant not specified [RCV004132902] Chr21:44102844 [GRCh38]
Chr21:45522725 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2947G>T (p.Gly983Cys) single nucleotide variant not specified [RCV004124059] Chr21:44091999 [GRCh38]
Chr21:45511880 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2047A>G (p.Ser683Gly) single nucleotide variant not specified [RCV004114940] Chr21:44083111 [GRCh38]
Chr21:45502992 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2947G>A (p.Gly983Ser) single nucleotide variant not specified [RCV004201665] Chr21:44091999 [GRCh38]
Chr21:45511880 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.29C>T (p.Pro10Leu) single nucleotide variant not specified [RCV004201178] Chr21:44012522 [GRCh38]
Chr21:45432403 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.920G>A (p.Arg307His) single nucleotide variant not specified [RCV004181180] Chr21:44063667 [GRCh38]
Chr21:45483548 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3673C>T (p.Arg1225Trp) single nucleotide variant not specified [RCV004109458] Chr21:44103424 [GRCh38]
Chr21:45523305 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1598G>A (p.Gly533Glu) single nucleotide variant not specified [RCV004178583] Chr21:44079692 [GRCh38]
Chr21:45499573 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.107C>T (p.Thr36Met) single nucleotide variant not specified [RCV004203857] Chr21:44032130 [GRCh38]
Chr21:45452011 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3674G>A (p.Arg1225Gln) single nucleotide variant not specified [RCV004077055] Chr21:44103425 [GRCh38]
Chr21:45523306 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2782T>A (p.Cys928Ser) single nucleotide variant not specified [RCV004097307] Chr21:44089845 [GRCh38]
Chr21:45509726 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.20C>T (p.Pro7Leu) single nucleotide variant not specified [RCV004215847] Chr21:44012513 [GRCh38]
Chr21:45432394 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2166G>T (p.Glu722Asp) single nucleotide variant not specified [RCV004208009] Chr21:44083230 [GRCh38]
Chr21:45503111 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.2302G>C (p.Val768Leu) single nucleotide variant not specified [RCV004294126] Chr21:44084185 [GRCh38]
Chr21:45504066 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.710A>G (p.Gln237Arg) single nucleotide variant not specified [RCV004286784] Chr21:44059134 [GRCh38]
Chr21:45479015 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.940C>T (p.Gln314Ter) single nucleotide variant Neurodevelopmental disorder with microcephaly, short stature, and speech delay [RCV003228887] Chr21:44063687 [GRCh38]
Chr21:45483568 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_003274.5(TRAPPC10):c.1397T>C (p.Ile466Thr) single nucleotide variant not specified [RCV004276715] Chr21:44077712 [GRCh38]
Chr21:45497593 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1468A>C (p.Met490Leu) single nucleotide variant not specified [RCV004272851] Chr21:44077783 [GRCh38]
Chr21:45497664 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2842A>G (p.Thr948Ala) single nucleotide variant not specified [RCV004295194] Chr21:44089905 [GRCh38]
Chr21:45509786 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3689C>T (p.Pro1230Leu) single nucleotide variant not specified [RCV004320034] Chr21:44103440 [GRCh38]
Chr21:45523321 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.784G>T (p.Ala262Ser) single nucleotide variant not specified [RCV004250119] Chr21:44059208 [GRCh38]
Chr21:45479089 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2578G>A (p.Asp860Asn) single nucleotide variant not specified [RCV004254530] Chr21:44087737 [GRCh38]
Chr21:45507618 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1512_1513insAA (p.Ala505fs) insertion Neurodevelopmental disorder with microcephaly, short stature, and speech delay [RCV003228886] Chr21:44079605..44079606 [GRCh38]
Chr21:45499486..45499487 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_003274.5(TRAPPC10):c.3440T>C (p.Met1147Thr) single nucleotide variant not specified [RCV004269266] Chr21:44102871 [GRCh38]
Chr21:45522752 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.14A>G (p.Glu5Gly) single nucleotide variant Neurodevelopmental disorder with microcephaly, short stature, and speech delay [RCV003340739] Chr21:44012507 [GRCh38]
Chr21:45432388 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2827G>A (p.Val943Ile) single nucleotide variant not provided [RCV003387666] Chr21:44089890 [GRCh38]
Chr21:45509771 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2441C>T (p.Thr814Met) single nucleotide variant not provided [RCV003387667] Chr21:44086862 [GRCh38]
Chr21:45506743 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2534C>T (p.Thr845Met) single nucleotide variant not specified [RCV004345232] Chr21:44086955 [GRCh38]
Chr21:45506836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.997G>A (p.Glu333Lys) single nucleotide variant not specified [RCV004357981] Chr21:44063744 [GRCh38]
Chr21:45483625 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3 copy number gain not provided [RCV003485228] Chr21:44925905..45717716 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_003274.5(TRAPPC10):c.2623G>A (p.Val875Met) single nucleotide variant TRAPPC10-related condition [RCV003952155] Chr21:44087782 [GRCh38]
Chr21:45507663 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.149+5G>C single nucleotide variant TRAPPC10-related condition [RCV003906782] Chr21:44032177 [GRCh38]
Chr21:45452058 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.3028G>A (p.Val1010Ile) single nucleotide variant TRAPPC10-related condition [RCV003959750] Chr21:44094093 [GRCh38]
Chr21:45513974 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003274.5(TRAPPC10):c.1504C>T (p.Leu502Phe) single nucleotide variant not specified [RCV004471284] Chr21:44079598 [GRCh38]
Chr21:45499479 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1741C>T (p.Pro581Ser) single nucleotide variant not specified [RCV004471287] Chr21:44082805 [GRCh38]
Chr21:45502686 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2385C>G (p.Ser795Arg) single nucleotide variant not specified [RCV004471290] Chr21:44086806 [GRCh38]
Chr21:45506687 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.541G>A (p.Ala181Thr) single nucleotide variant not specified [RCV004471302] Chr21:44055756 [GRCh38]
Chr21:45475637 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1585C>G (p.Gln529Glu) single nucleotide variant not specified [RCV004471285] Chr21:44079679 [GRCh38]
Chr21:45499560 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1499T>C (p.Ile500Thr) single nucleotide variant not specified [RCV004471283] Chr21:44079593 [GRCh38]
Chr21:45499474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.1670A>G (p.Lys557Arg) single nucleotide variant not specified [RCV004471286] Chr21:44080074 [GRCh38]
Chr21:45499955 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2420C>G (p.Thr807Ser) single nucleotide variant not specified [RCV004471291] Chr21:44086841 [GRCh38]
Chr21:45506722 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3277T>G (p.Leu1093Val) single nucleotide variant not specified [RCV004471298] Chr21:44098465 [GRCh38]
Chr21:45518346 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.640G>C (p.Glu214Gln) single nucleotide variant not specified [RCV004471303] Chr21:44055855 [GRCh38]
Chr21:45475736 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.787G>A (p.Gly263Arg) single nucleotide variant not specified [RCV004471304] Chr21:44059211 [GRCh38]
Chr21:45479092 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2013G>C (p.Leu671Phe) single nucleotide variant not specified [RCV004471288] Chr21:44083077 [GRCh38]
Chr21:45502958 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2302G>A (p.Val768Ile) single nucleotide variant not specified [RCV004471289] Chr21:44084185 [GRCh38]
Chr21:45504066 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2482G>A (p.Ala828Thr) single nucleotide variant not specified [RCV004471292] Chr21:44086903 [GRCh38]
Chr21:45506784 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2485A>G (p.Met829Val) single nucleotide variant not specified [RCV004471293] Chr21:44086906 [GRCh38]
Chr21:45506787 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2806G>A (p.Val936Ile) single nucleotide variant not specified [RCV004471295] Chr21:44089869 [GRCh38]
Chr21:45509750 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.2989T>C (p.Ser997Pro) single nucleotide variant not specified [RCV004471296] Chr21:44092041 [GRCh38]
Chr21:45511922 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3143A>C (p.Tyr1048Ser) single nucleotide variant not specified [RCV004471297] Chr21:44094208 [GRCh38]
Chr21:45514089 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3559G>A (p.Asp1187Asn) single nucleotide variant not specified [RCV004471299] Chr21:44103310 [GRCh38]
Chr21:45523191 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003274.5(TRAPPC10):c.3596C>T (p.Pro1199Leu) single nucleotide variant not specified [RCV004471300] Chr21:44103347 [GRCh38]
Chr21:45523228 [GRCh37]
Chr21:21q22.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR186hsa-miR-186-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350

Predicted Target Of
Summary Value
Count of predictions:4700
Count of miRNA genes:1342
Interacting mature miRNAs:1745
Transcripts:ENST00000291574, ENST00000380221, ENST00000422875, ENST00000459741, ENST00000461889, ENST00000465905, ENST00000468864, ENST00000469521, ENST00000481460, ENST00000483973, ENST00000485621, ENST00000486746
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 342 252 491 65 922 60 946 78 614 163 614 933 14 125 638
Low 2096 2714 1234 558 1027 404 3409 2097 3080 256 837 676 157 1079 2150 5 1
Below cutoff 19 1 1 19 37 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB001517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB001523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL559301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF979287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG058078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM988257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU733895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX370317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000291574   ⟹   ENSP00000291574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,012,309 - 44,106,552 (+)Ensembl
RefSeq Acc Id: ENST00000380221   ⟹   ENSP00000369570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,012,319 - 44,060,262 (+)Ensembl
RefSeq Acc Id: ENST00000422875   ⟹   ENSP00000402221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,012,325 - 44,104,733 (+)Ensembl
RefSeq Acc Id: ENST00000459741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,088,039 - 44,106,552 (+)Ensembl
RefSeq Acc Id: ENST00000461889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,079,793 - 44,083,015 (+)Ensembl
RefSeq Acc Id: ENST00000465905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,089,485 - 44,098,424 (+)Ensembl
RefSeq Acc Id: ENST00000468864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,096,580 - 44,105,051 (+)Ensembl
RefSeq Acc Id: ENST00000469521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,089,760 - 44,098,534 (+)Ensembl
RefSeq Acc Id: ENST00000481460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,079,476 - 44,082,900 (+)Ensembl
RefSeq Acc Id: ENST00000483973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,089,501 - 44,096,704 (+)Ensembl
RefSeq Acc Id: ENST00000485621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,091,753 - 44,098,425 (+)Ensembl
RefSeq Acc Id: ENST00000486746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,089,701 - 44,098,434 (+)Ensembl
RefSeq Acc Id: NM_001351709   ⟹   NP_001338638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,074,324 - 44,106,552 (+)NCBI
T2T-CHM13v2.02142,429,938 - 42,462,167 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003274   ⟹   NP_003265
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
GRCh372145,432,206 - 45,526,433 (+)RGD
GRCh372145,432,206 - 45,526,433 (+)NCBI
Build 362144,256,634 - 44,350,861 (+)NCBI Archive
Celera2130,537,856 - 30,632,073 (+)RGD
HuRef2130,802,706 - 30,896,716 (+)RGD
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261168   ⟹   XP_005261225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529714   ⟹   XP_011528016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529715   ⟹   XP_011528017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529716   ⟹   XP_011528018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529717   ⟹   XP_011528019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,099,079 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529718   ⟹   XP_011528020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,100,066 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529719   ⟹   XP_011528021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529720   ⟹   XP_011528022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,096,710 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529721   ⟹   XP_011528023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,038,203 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529722   ⟹   XP_011528024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,052,525 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529723   ⟹   XP_011528025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,052,399 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529725   ⟹   XP_011528027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,096,694 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529726   ⟹   XP_011528028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,102,811 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529727   ⟹   XP_011528029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,059,127 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529730   ⟹   XP_011528032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,087,928 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028454   ⟹   XP_016883943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,106,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440970   ⟹   XP_047296926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,100,066 (+)NCBI
RefSeq Acc Id: XM_047440971   ⟹   XP_047296927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,102,966 (+)NCBI
RefSeq Acc Id: XM_047440972   ⟹   XP_047296928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,038,205 - 44,106,552 (+)NCBI
RefSeq Acc Id: XM_047440973   ⟹   XP_047296929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,038,198 - 44,106,552 (+)NCBI
RefSeq Acc Id: XM_047440974   ⟹   XP_047296930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,063,042 - 44,106,552 (+)NCBI
RefSeq Acc Id: XM_047440975   ⟹   XP_047296931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,052,526 - 44,106,552 (+)NCBI
RefSeq Acc Id: XM_047440976   ⟹   XP_047296932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,012,309 - 44,086,960 (+)NCBI
RefSeq Acc Id: XM_054324809   ⟹   XP_054180784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324810   ⟹   XP_054180785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324811   ⟹   XP_054180786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324812   ⟹   XP_054180787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324813   ⟹   XP_054180788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324814   ⟹   XP_054180789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,454,693 (+)NCBI
RefSeq Acc Id: XM_054324815   ⟹   XP_054180790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,458,425 (+)NCBI
RefSeq Acc Id: XM_054324816   ⟹   XP_054180791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324817   ⟹   XP_054180792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,458,425 (+)NCBI
RefSeq Acc Id: XM_054324818   ⟹   XP_054180793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,458,580 (+)NCBI
RefSeq Acc Id: XM_054324819   ⟹   XP_054180794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,452,324 (+)NCBI
RefSeq Acc Id: XM_054324820   ⟹   XP_054180795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,393,818 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324821   ⟹   XP_054180796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,408,139 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324822   ⟹   XP_054180797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,393,820 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324823   ⟹   XP_054180798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,393,813 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324824   ⟹   XP_054180799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,408,013 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324825   ⟹   XP_054180800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,452,308 (+)NCBI
RefSeq Acc Id: XM_054324826   ⟹   XP_054180801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,458,425 (+)NCBI
RefSeq Acc Id: XM_054324827   ⟹   XP_054180802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,414,741 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324828   ⟹   XP_054180803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,418,656 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324829   ⟹   XP_054180804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,408,140 - 42,462,167 (+)NCBI
RefSeq Acc Id: XM_054324830   ⟹   XP_054180805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,443,542 (+)NCBI
RefSeq Acc Id: XM_054324831   ⟹   XP_054180806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,367,933 - 42,442,574 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001338638 (Get FASTA)   NCBI Sequence Viewer  
  NP_003265 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261225 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528016 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528017 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528018 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528019 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528020 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528021 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528022 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528023 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528024 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528025 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528027 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528028 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528029 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528032 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883943 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296926 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296928 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296931 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296932 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180784 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180785 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180787 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180794 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180795 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180796 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180797 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180806 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58468 (Get FASTA)   NCBI Sequence Viewer  
  AAC50134 (Get FASTA)   NCBI Sequence Viewer  
  AAC51826 (Get FASTA)   NCBI Sequence Viewer  
  AAH46241 (Get FASTA)   NCBI Sequence Viewer  
  AAH52247 (Get FASTA)   NCBI Sequence Viewer  
  AAH94823 (Get FASTA)   NCBI Sequence Viewer  
  AAI01729 (Get FASTA)   NCBI Sequence Viewer  
  BAA21099 (Get FASTA)   NCBI Sequence Viewer  
  BAA21136 (Get FASTA)   NCBI Sequence Viewer  
  BAG58329 (Get FASTA)   NCBI Sequence Viewer  
  BAG62546 (Get FASTA)   NCBI Sequence Viewer  
  BAG64591 (Get FASTA)   NCBI Sequence Viewer  
  CAI46146 (Get FASTA)   NCBI Sequence Viewer  
  EAX09459 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000291574
  ENSP00000291574.4
  ENSP00000369570.3
  ENSP00000402221.1
GenBank Protein P48553 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003265   ⟸   NM_003274
- Peptide Label: isoform a
- UniProtKB: Q9UMD4 (UniProtKB/Swiss-Prot),   Q86SI7 (UniProtKB/Swiss-Prot),   Q3MIR2 (UniProtKB/Swiss-Prot),   Q9Y4L3 (UniProtKB/Swiss-Prot),   P48553 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261225   ⟸   XM_005261168
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011528016   ⟸   XM_011529714
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528017   ⟸   XM_011529715
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011528018   ⟸   XM_011529716
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528021   ⟸   XM_011529719
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011528028   ⟸   XM_011529726
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011528020   ⟸   XM_011529718
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011528019   ⟸   XM_011529717
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011528022   ⟸   XM_011529720
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011528027   ⟸   XM_011529725
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011528032   ⟸   XM_011529730
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_011528023   ⟸   XM_011529721
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011528025   ⟸   XM_011529723
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011528024   ⟸   XM_011529722
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011528029   ⟸   XM_011529727
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016883943   ⟸   XM_017028454
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001338638   ⟸   NM_001351709
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: ENSP00000291574   ⟸   ENST00000291574
RefSeq Acc Id: ENSP00000369570   ⟸   ENST00000380221
RefSeq Acc Id: ENSP00000402221   ⟸   ENST00000422875
RefSeq Acc Id: XP_047296927   ⟸   XM_047440971
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047296926   ⟸   XM_047440970
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047296932   ⟸   XM_047440976
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047296929   ⟸   XM_047440973
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047296928   ⟸   XM_047440972
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047296931   ⟸   XM_047440975
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047296930   ⟸   XM_047440974
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054180784   ⟸   XM_054324809
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054180785   ⟸   XM_054324810
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180787   ⟸   XM_054324812
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054180786   ⟸   XM_054324811
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054180788   ⟸   XM_054324813
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054180791   ⟸   XM_054324816
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054180793   ⟸   XM_054324818
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054180790   ⟸   XM_054324815
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054180801   ⟸   XM_054324826
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054180792   ⟸   XM_054324817
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054180789   ⟸   XM_054324814
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054180794   ⟸   XM_054324819
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054180800   ⟸   XM_054324825
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054180805   ⟸   XM_054324830
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054180806   ⟸   XM_054324831
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054180798   ⟸   XM_054324823
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054180795   ⟸   XM_054324820
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054180797   ⟸   XM_054324822
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054180799   ⟸   XM_054324824
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054180796   ⟸   XM_054324821
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054180804   ⟸   XM_054324829
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054180802   ⟸   XM_054324827
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054180803   ⟸   XM_054324828
- Peptide Label: isoform X18

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48553-F1-model_v2 AlphaFold P48553 1-1259 view protein structure

Promoters
RGD ID:13602996
Promoter ID:EPDNEW_H27682
Type:initiation region
Name:TRAPPC10_1
Description:trafficking protein particle complex 10
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
GRCh382144,012,331 - 44,012,391EPDNEW
RGD ID:6799415
Promoter ID:HG_KWN:41130
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000195737,   OTTHUMT00000195739,   OTTHUMT00000327496,   UC010GPO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362144,256,391 - 44,257,407 (+)MPROMDB
RGD ID:6799611
Promoter ID:HG_KWN:41132
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000195742,   OTTHUMT00000327497
Position:
Human AssemblyChrPosition (strand)Source
Build 362144,322,976 - 44,323,827 (+)MPROMDB
RGD ID:6799608
Promoter ID:HG_KWN:41133
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000195740,   OTTHUMT00000195743,   OTTHUMT00000195744,   OTTHUMT00000327499,   OTTHUMT00000327500
Position:
Human AssemblyChrPosition (strand)Source
Build 362144,331,351 - 44,334,117 (+)MPROMDB
RGD ID:6799609
Promoter ID:HG_KWN:41135
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000195741
Position:
Human AssemblyChrPosition (strand)Source
Build 362144,341,036 - 44,341,536 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11868 AgrOrtholog
COSMIC TRAPPC10 COSMIC
Ensembl Genes ENSG00000160218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000291574 ENTREZGENE
  ENST00000291574.9 UniProtKB/Swiss-Prot
  ENST00000380221.7 UniProtKB/Swiss-Prot
  ENST00000422875.5 UniProtKB/TrEMBL
GTEx ENSG00000160218 GTEx
HGNC ID HGNC:11868 ENTREZGENE
Human Proteome Map TRAPPC10 Human Proteome Map
InterPro TRAPP_II_complex_TRAPPC10 UniProtKB/Swiss-Prot
  TRAPPC10/Trs130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7109 UniProtKB/Swiss-Prot
NCBI Gene 7109 ENTREZGENE
OMIM 602103 OMIM
PANTHER PTHR13251 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TRAPPC10 UniProtKB/Swiss-Prot
PharmGKB PA162406870 PharmGKB
UniProt F8WE24_HUMAN UniProtKB/TrEMBL
  P48553 ENTREZGENE
  Q3MIR2 ENTREZGENE
  Q86SI7 ENTREZGENE
  Q9UMD4 ENTREZGENE
  Q9Y4L3 ENTREZGENE
  TPC10_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q3MIR2 UniProtKB/Swiss-Prot
  Q86SI7 UniProtKB/Swiss-Prot
  Q9UMD4 UniProtKB/Swiss-Prot
  Q9Y4L3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-15 TRAPPC10  trafficking protein particle complex subunit 10  TRAPPC10  trafficking protein particle complex 10  Symbol and/or name change 19259463 PROVISIONAL