THUMPD1 (THUMP domain containing 1) - Rat Genome Database

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Gene: THUMPD1 (THUMP domain containing 1) Homo sapiens
Analyze
Symbol: THUMPD1
Name: THUMP domain containing 1
RGD ID: 1318865
HGNC Page HGNC:23807
Description: Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686C1054; NEDSOA; Tan1; THUMP domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: THUMPD1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381620,733,664 - 20,741,818 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1620,702,816 - 20,742,084 (-)EnsemblGRCh38hg38GRCh38
GRCh371620,744,986 - 20,753,140 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361620,652,487 - 20,660,700 (-)NCBINCBI36Build 36hg18NCBI36
Build 341620,654,214 - 20,660,619NCBI
Celera1620,055,205 - 20,063,419 (-)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1619,280,631 - 19,288,784 (-)NCBIHuRef
CHM1_11620,832,245 - 20,840,455 (-)NCBICHM1_1
T2T-CHM13v2.01620,664,595 - 20,672,749 (-)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
tRNA modification  (IBA,IEA)

Cellular Component
nucleoplasm  (TAS)

Molecular Function
protein binding  (IPI)
RNA binding  (HDA,IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10493829   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17081983   PMID:21873635   PMID:22190034   PMID:22658674   PMID:22863883   PMID:22939629   PMID:25609649  
PMID:25653167   PMID:26186194   PMID:26344197   PMID:28076326   PMID:28514442   PMID:29845934   PMID:29955894   PMID:31091453   PMID:32129710   PMID:32344865   PMID:32416067   PMID:32687490  
PMID:32877691   PMID:32994395   PMID:33961781   PMID:34762107   PMID:35013218   PMID:35196516   PMID:35256949   PMID:35439318   PMID:35509820   PMID:35831314   PMID:35944360   PMID:36215168  
PMID:37827155  


Genomics

Comparative Map Data
THUMPD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381620,733,664 - 20,741,818 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1620,702,816 - 20,742,084 (-)EnsemblGRCh38hg38GRCh38
GRCh371620,744,986 - 20,753,140 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361620,652,487 - 20,660,700 (-)NCBINCBI36Build 36hg18NCBI36
Build 341620,654,214 - 20,660,619NCBI
Celera1620,055,205 - 20,063,419 (-)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1619,280,631 - 19,288,784 (-)NCBIHuRef
CHM1_11620,832,245 - 20,840,455 (-)NCBICHM1_1
T2T-CHM13v2.01620,664,595 - 20,672,749 (-)NCBIT2T-CHM13v2.0
Thumpd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397119,314,316 - 119,322,842 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7119,314,316 - 119,320,021 (-)EnsemblGRCm39 Ensembl
GRCm387119,715,093 - 119,723,619 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7119,715,093 - 119,720,798 (-)EnsemblGRCm38mm10GRCm38
MGSCv377126,858,607 - 126,864,279 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367119,506,242 - 119,511,914 (-)NCBIMGSCv36mm8
Celera7119,635,283 - 119,640,617 (-)NCBICelera
Cytogenetic Map7F2NCBI
cM Map764.13NCBI
Thumpd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81183,510,242 - 183,516,282 (-)NCBIGRCr8
mRatBN7.21174,078,875 - 174,084,915 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1174,078,878 - 174,084,937 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1182,394,372 - 182,400,418 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01189,580,412 - 189,586,458 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01182,318,354 - 182,324,387 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01189,457,582 - 190,370,515 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01197,294,320 - 197,295,857 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01196,392,973 - 196,411,143 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41177,997,217 - 178,003,994 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11178,136,463 - 178,143,240 (-)NCBI
Celera1171,828,860 - 171,834,555 (-)NCBICelera
Cytogenetic Map1q35NCBI
Thumpd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495549332,284 - 40,630 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495549332,326 - 40,283 (-)NCBIChiLan1.0ChiLan1.0
THUMPD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21821,901,443 - 21,909,671 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11626,419,720 - 26,430,134 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01617,666,536 - 17,677,158 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11620,764,002 - 20,774,613 (-)NCBIpanpan1.1PanPan1.1panPan2
THUMPD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1624,607,053 - 24,615,916 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl624,607,123 - 24,612,661 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha622,761,489 - 22,770,380 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0624,762,915 - 24,771,805 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl624,762,923 - 24,771,798 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1624,563,841 - 24,572,729 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0624,459,016 - 24,467,904 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0624,843,150 - 24,852,040 (+)NCBIUU_Cfam_GSD_1.0
Thumpd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344117,953,006 - 117,960,315 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365016,050,863 - 6,058,408 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365016,050,866 - 6,058,171 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THUMPD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl325,286,018 - 25,295,347 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1325,285,682 - 25,315,710 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2326,070,408 - 26,094,938 (+)NCBISscrofa10.2Sscrofa10.2susScr3
THUMPD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1518,856,807 - 18,876,376 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl518,868,134 - 18,876,764 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606811,028,326 - 11,047,918 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Thumpd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247826,865,996 - 6,893,616 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THUMPD1
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del) microsatellite Neurodevelopmental disorder [RCV001807788]|Neurodevelopmental disorder with speech delay and variable ocular anomalies [RCV002274215] Chr16:20737166..20737168 [GRCh38]
Chr16:20748488..20748490 [GRCh37]
Chr16:16p12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1 copy number loss See cases [RCV000139900] Chr16:20408020..21244474 [GRCh38]
Chr16:20419342..21255795 [GRCh37]
Chr16:20326843..21163296 [NCBI36]
Chr16:16p12.3-12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)x3 copy number gain See cases [RCV000447220] Chr16:20258837..21405328 [GRCh37]
Chr16:16p12.3-12.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_017736.5(THUMPD1):c.176A>G (p.Glu59Gly) single nucleotide variant Inborn genetic diseases [RCV003292028] Chr16:20741564 [GRCh38]
Chr16:20752886 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.3(chr16:20488078-20759727)x3 copy number gain not provided [RCV001006784] Chr16:20488078..20759727 [GRCh37]
Chr16:16p12.3		 likely benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser) single nucleotide variant Neurodevelopmental disorder [RCV001807790] Chr16:20741607 [GRCh38]
Chr16:20752929 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.495dup (p.Ser166fs) duplication Neurodevelopmental disorder [RCV001807782]|Neurodevelopmental disorder with speech delay and variable ocular anomalies [RCV002274212] Chr16:20737867..20737868 [GRCh38]
Chr16:20749189..20749190 [GRCh37]
Chr16:16p12.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_017736.5(THUMPD1):c.634dup (p.Glu212fs) duplication Neurodevelopmental disorder [RCV001807789]|Neurodevelopmental disorder with speech delay and variable ocular anomalies [RCV002274216] Chr16:20737728..20737729 [GRCh38]
Chr16:20749050..20749051 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter) single nucleotide variant Neurodevelopmental disorder [RCV001807784] Chr16:20738962 [GRCh38]
Chr16:20750284 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs) microsatellite Neurodevelopmental disorder [RCV001807785]|Neurodevelopmental disorder with speech delay and variable ocular anomalies [RCV002274214] Chr16:20738997..20739000 [GRCh38]
Chr16:20750319..20750322 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser) single nucleotide variant Neurodevelopmental disorder [RCV001807787] Chr16:20737873 [GRCh38]
Chr16:20749195 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter) single nucleotide variant Neurodevelopmental disorder [RCV001807783]|Neurodevelopmental disorder with speech delay and variable ocular anomalies [RCV002274213] Chr16:20737236 [GRCh38]
Chr16:20748558 [GRCh37]
Chr16:16p12.3		 pathogenic|uncertain significance
NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter) single nucleotide variant Neurodevelopmental disorder [RCV001807786] Chr16:20737894 [GRCh38]
Chr16:20749216 [GRCh37]
Chr16:16p12.3		 pathogenic
GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328) copy number gain not specified [RCV002052524] Chr16:20258837..21405328 [GRCh37]
Chr16:16p12.3-12.2		 uncertain significance
NM_017736.5(THUMPD1):c.98C>T (p.Ala33Val) single nucleotide variant Inborn genetic diseases [RCV003259200] Chr16:20741642 [GRCh38]
Chr16:20752964 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3(chr16:20631242-20784335)x1 copy number loss not provided [RCV002473702] Chr16:20631242..20784335 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_017736.5(THUMPD1):c.215T>C (p.Met72Thr) single nucleotide variant Inborn genetic diseases [RCV003287398] Chr16:20741525 [GRCh38]
Chr16:20752847 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.698C>A (p.Thr233Asn) single nucleotide variant Inborn genetic diseases [RCV002753864] Chr16:20737244 [GRCh38]
Chr16:20748566 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.743G>T (p.Cys248Phe) single nucleotide variant Inborn genetic diseases [RCV002694007] Chr16:20737199 [GRCh38]
Chr16:20748521 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.134G>C (p.Gly45Ala) single nucleotide variant Inborn genetic diseases [RCV002875032] Chr16:20741606 [GRCh38]
Chr16:20752928 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.1034C>G (p.Ser345Cys) single nucleotide variant Inborn genetic diseases [RCV003003681] Chr16:20736908 [GRCh38]
Chr16:20748230 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.253C>T (p.Pro85Ser) single nucleotide variant Inborn genetic diseases [RCV002983608] Chr16:20739050 [GRCh38]
Chr16:20750372 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.511G>C (p.Ala171Pro) single nucleotide variant Inborn genetic diseases [RCV002832722] Chr16:20737852 [GRCh38]
Chr16:20749174 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.197A>G (p.Asn66Ser) single nucleotide variant Inborn genetic diseases [RCV002656902] Chr16:20741543 [GRCh38]
Chr16:20752865 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.485T>C (p.Met162Thr) single nucleotide variant Inborn genetic diseases [RCV003257215] Chr16:20737878 [GRCh38]
Chr16:20749200 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.736G>T (p.Ala246Ser) single nucleotide variant Inborn genetic diseases [RCV003174187] Chr16:20737206 [GRCh38]
Chr16:20748528 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.964A>G (p.Thr322Ala) single nucleotide variant Inborn genetic diseases [RCV003212203] Chr16:20736978 [GRCh38]
Chr16:20748300 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.74C>T (p.Ala25Val) single nucleotide variant Inborn genetic diseases [RCV003372276] Chr16:20741666 [GRCh38]
Chr16:20752988 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_017736.5(THUMPD1):c.290del (p.Ala97fs) deletion Neurodevelopmental disorder with speech delay and variable ocular anomalies [RCV003479923] Chr16:20739013 [GRCh38]
Chr16:20750335 [GRCh37]
Chr16:16p12.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2832
Count of miRNA genes:908
Interacting mature miRNAs:1060
Transcripts:ENST00000381337, ENST00000396083, ENST00000431224, ENST00000565248, ENST00000569768, ENST00000570231
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-61359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,745,024 - 20,745,200UniSTSGRCh37
Build 361620,652,525 - 20,652,701RGDNCBI36
Celera1620,055,243 - 20,055,419RGD
Cytogenetic Map16p12.3UniSTS
HuRef1619,280,669 - 19,280,845UniSTS
RH91275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,747,310 - 20,747,474UniSTSGRCh37
Build 361620,654,811 - 20,654,975RGDNCBI36
Celera1620,057,529 - 20,057,693RGD
Cytogenetic Map16p12.3UniSTS
HuRef1619,282,947 - 19,283,111UniSTS
GeneMap99-GB4 RH Map16191.13UniSTS
SHGC-79168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,271,783 - 30,272,069UniSTSGRCh37
GRCh371620,746,534 - 20,746,822UniSTSGRCh37
Build 361620,654,035 - 20,654,323RGDNCBI36
Celera2115,454,518 - 15,454,804UniSTS
Celera1620,056,753 - 20,057,041RGD
Cytogenetic Map16p12.3UniSTS
HuRef2115,676,477 - 15,676,763UniSTS
HuRef1619,282,173 - 19,282,459UniSTS
TNG Radiation Hybrid Map612716.0UniSTS
THUMPD1__5258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,746,750 - 20,747,503UniSTSGRCh37
Build 361620,654,251 - 20,655,004RGDNCBI36
Celera1620,056,969 - 20,057,722RGD
HuRef1619,282,387 - 19,283,140UniSTS
RH35937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,272,049 - 30,272,240UniSTSGRCh37
GRCh371620,746,802 - 20,746,991UniSTSGRCh37
Build 361620,654,303 - 20,654,492RGDNCBI36
Celera2115,454,784 - 15,454,975UniSTS
Celera1620,057,021 - 20,057,210RGD
Cytogenetic Map16p12.3UniSTS
HuRef2115,676,743 - 15,676,934UniSTS
HuRef1619,282,439 - 19,282,628UniSTS
GeneMap99-GB4 RH Map16191.13UniSTS
SHGC-32909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,746,734 - 20,746,858UniSTSGRCh37
Build 361620,654,235 - 20,654,359RGDNCBI36
Celera1620,056,953 - 20,057,077RGD
Cytogenetic Map16p12.3UniSTS
HuRef1619,282,371 - 19,282,495UniSTS
TNG Radiation Hybrid Map1612026.0UniSTS
Stanford-G3 RH Map161148.0UniSTS
GeneMap99-GB4 RH Map16192.95UniSTS
Whitehead-RH Map16112.1UniSTS
NCBI RH Map16221.2UniSTS
GeneMap99-G3 RH Map161108.0UniSTS


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 2337 1404 1411 337 1195 189 3703 1174 2192 362 1453 1596 164 1 1127 2173 6 2
Low 102 1561 315 287 730 276 654 1023 1542 57 7 17 11 77 615
Below cutoff 26 26

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000381337   ⟹   ENSP00000370741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1620,733,664 - 20,742,084 (-)Ensembl
RefSeq Acc Id: ENST00000396083   ⟹   ENSP00000379392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1620,733,664 - 20,741,818 (-)Ensembl
RefSeq Acc Id: ENST00000565248   ⟹   ENSP00000455033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1620,737,089 - 20,741,803 (-)Ensembl
RefSeq Acc Id: ENST00000569768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1620,738,744 - 20,741,815 (-)Ensembl
RefSeq Acc Id: ENST00000570231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1620,736,812 - 20,738,272 (-)Ensembl
RefSeq Acc Id: ENST00000636554   ⟹   ENSP00000490841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1620,702,816 - 20,741,815 (-)Ensembl
RefSeq Acc Id: NM_001304550   ⟹   NP_001291479
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,733,664 - 20,741,818 (-)NCBI
CHM1_11620,832,245 - 20,840,542 (-)NCBI
T2T-CHM13v2.01620,664,595 - 20,672,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017736   ⟹   NP_060206
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,733,664 - 20,741,818 (-)NCBI
GRCh371620,732,498 - 20,753,405 (-)NCBI
Build 361620,652,487 - 20,660,700 (-)NCBI Archive
Celera1620,055,205 - 20,063,419 (-)RGD
HuRef1619,280,631 - 19,288,784 (-)RGD
CHM1_11620,832,245 - 20,840,542 (-)NCBI
T2T-CHM13v2.01620,664,595 - 20,672,749 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060206   ⟸   NM_017736
- UniProtKB: Q9BWC3 (UniProtKB/Swiss-Prot),   Q9NXG2 (UniProtKB/Swiss-Prot),   Q6MZT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291479   ⟸   NM_001304550
- UniProtKB: Q9BWC3 (UniProtKB/Swiss-Prot),   Q9NXG2 (UniProtKB/Swiss-Prot),   Q6MZT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490841   ⟸   ENST00000636554
RefSeq Acc Id: ENSP00000455033   ⟸   ENST00000565248
RefSeq Acc Id: ENSP00000370741   ⟸   ENST00000381337
RefSeq Acc Id: ENSP00000379392   ⟸   ENST00000396083
Protein Domains
THUMP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NXG2-F1-model_v2 AlphaFold Q9NXG2 1-353 view protein structure

Promoters
RGD ID:6793513
Promoter ID:HG_KWN:23208
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381337,   NM_017736
Position:
Human AssemblyChrPosition (strand)Source
Build 361620,660,366 - 20,660,866 (-)MPROMDB
RGD ID:6850902
Promoter ID:EP73247
Type:multiple initiation site
Name:HS_FLJ20274
Description:Hypothetical protein FLJ20274.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361620,660,641 - 20,660,701EPD
RGD ID:7231511
Promoter ID:EPDNEW_H21501
Type:initiation region
Name:THUMPD1_1
Description:THUMP domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21503  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,741,815 - 20,741,875EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23807 AgrOrtholog
COSMIC THUMPD1 COSMIC
Ensembl Genes ENSG00000066654 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381337 ENTREZGENE
  ENST00000381337.6 UniProtKB/Swiss-Prot
  ENST00000396083 ENTREZGENE
  ENST00000396083.7 UniProtKB/Swiss-Prot
  ENST00000565248.1 UniProtKB/TrEMBL
  ENST00000636554.1 UniProtKB/Swiss-Prot
Gene3D-CATH THUMP superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000066654 GTEx
HGNC ID HGNC:23807 ENTREZGENE
Human Proteome Map THUMPD1 Human Proteome Map
InterPro THUMP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THUMPD1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55623 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55623 ENTREZGENE
OMIM 616662 OMIM
PANTHER PTHR13452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THUMP DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam THUMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134983093 PharmGKB
PROSITE THUMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART THUMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP THUMP domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H3BNW0_HUMAN UniProtKB/TrEMBL
  Q6MZT3 ENTREZGENE, UniProtKB/TrEMBL
  Q9BWC3 ENTREZGENE
  Q9NXG2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9BWC3 UniProtKB/Swiss-Prot