TAPT1 (transmembrane anterior posterior transformation 1) - Rat Genome Database

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Gene: TAPT1 (transmembrane anterior posterior transformation 1) Homo sapiens
Analyze
Symbol: TAPT1
Name: transmembrane anterior posterior transformation 1
RGD ID: 1605561
HGNC Page HGNC:26887
Description: Predicted to enable growth hormone-releasing hormone receptor activity. Involved in positive regulation of cilium assembly. Located in cytosol; microtubule organizing center; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMVFR; cytomegalovirus partial fusion receptor; FLJ90013; OCLSBG; transmembrane anterior posterior transformation protein 1 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38416,160,505 - 16,227,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl416,160,505 - 16,227,410 (-)EnsemblGRCh38hg38GRCh38
GRCh37416,162,128 - 16,228,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,771,226 - 15,837,259 (-)NCBINCBI36Build 36hg18NCBI36
Celera416,626,692 - 16,693,512 (-)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef415,511,711 - 15,593,606 (-)NCBIHuRef
CHM1_1416,160,072 - 16,226,096 (-)NCBICHM1_1
T2T-CHM13v2.0416,142,386 - 16,209,261 (-)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

Cellular Component
centrosome  (IDA,IEA)
ciliary basal body  (IBA,IDA,IEA)
cilium  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
endoplasmic reticulum membrane  (IBA)
membrane  (IEA,TAS)
nucleoplasm  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8605045   PMID:10640539   PMID:12477932   PMID:16303743   PMID:17151244   PMID:21873635   PMID:24665060   PMID:26186194   PMID:26365339   PMID:26472760   PMID:26496610   PMID:26638075  
PMID:28514442   PMID:28692057   PMID:29395067   PMID:29568061   PMID:29987050   PMID:31056421   PMID:31586073   PMID:32788342   PMID:33301849   PMID:33845483   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34432599   PMID:34709727   PMID:36370851   PMID:36652330   PMID:37292039   PMID:37774976  


Genomics

Comparative Map Data
TAPT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38416,160,505 - 16,227,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl416,160,505 - 16,227,410 (-)EnsemblGRCh38hg38GRCh38
GRCh37416,162,128 - 16,228,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,771,226 - 15,837,259 (-)NCBINCBI36Build 36hg18NCBI36
Celera416,626,692 - 16,693,512 (-)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef415,511,711 - 15,593,606 (-)NCBIHuRef
CHM1_1416,160,072 - 16,226,096 (-)NCBICHM1_1
T2T-CHM13v2.0416,142,386 - 16,209,261 (-)NCBIT2T-CHM13v2.0
Tapt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39544,332,496 - 44,384,411 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl544,332,496 - 44,383,968 (-)EnsemblGRCm39 Ensembl
GRCm38544,175,154 - 44,231,163 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl544,175,154 - 44,226,626 (-)EnsemblGRCm38mm10GRCm38
MGSCv37544,566,398 - 44,617,845 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36544,463,407 - 44,514,854 (-)NCBIMGSCv36mm8
Celera541,594,911 - 41,646,303 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map524.24NCBI
Tapt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81471,085,966 - 71,132,228 (+)NCBIGRCr8
mRatBN7.21466,873,467 - 66,919,737 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1466,873,459 - 66,919,741 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01471,416,153 - 71,462,646 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1471,424,083 - 71,462,618 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01471,455,305 - 71,493,971 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41472,004,598 - 72,050,704 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11472,006,988 - 72,051,867 (+)NCBI
Celera1465,833,416 - 65,879,803 (+)NCBICelera
Cytogenetic Map14q21NCBI
Tapt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554807,833,883 - 7,893,131 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554807,833,883 - 7,892,948 (+)NCBIChiLan1.0ChiLan1.0
TAPT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2316,430,839 - 16,496,538 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1416,627,404 - 16,694,308 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0410,589,166 - 10,654,951 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1415,886,075 - 15,938,591 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl415,886,080 - 15,938,594 (-)Ensemblpanpan1.1panPan2
TAPT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1364,124,645 - 64,189,509 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl364,124,045 - 64,188,071 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha366,642,783 - 66,707,610 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0364,602,587 - 64,667,226 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl364,601,990 - 64,667,206 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1364,092,826 - 64,157,634 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0364,296,623 - 64,361,325 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0364,657,245 - 64,722,079 (+)NCBIUU_Cfam_GSD_1.0
Tapt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528558,073,972 - 58,121,605 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647711,777,415 - 11,823,421 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647711,777,657 - 11,823,296 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAPT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl811,365,432 - 11,416,488 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1811,365,423 - 11,415,699 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2811,018,225 - 11,066,666 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TAPT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12733,986,078 - 34,051,560 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2733,985,766 - 34,052,262 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604780,716,597 - 80,782,140 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tapt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475515,639,136 - 15,699,006 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475515,639,200 - 15,698,828 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TAPT1
224 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_153365.2(TAPT1):c.997+1291A>G single nucleotide variant Lung cancer [RCV000094258] Chr4:16178286 [GRCh38]
Chr4:16179909 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 copy number loss See cases [RCV000051220] Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 copy number gain See cases [RCV000051769] Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NC_000004.12:g.16226554GCC[5] microsatellite not provided [RCV001545319] Chr4:16226554..16226559 [GRCh38]
Chr4:16228177..16228182 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1 copy number loss See cases [RCV000140878] Chr4:15868863..16925081 [GRCh38]
Chr4:15870486..16926704 [GRCh37]
Chr4:15479584..16535802 [NCBI36]
Chr4:4p15.32		 uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_153365.3(TAPT1):c.1108-1G>C single nucleotide variant Complex lethal osteochondrodysplasia [RCV000210518] Chr4:16174730 [GRCh38]
Chr4:16176353 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_153365.3(TAPT1):c.1058A>T (p.Asp353Val) single nucleotide variant Complex lethal osteochondrodysplasia [RCV000210534] Chr4:16176168 [GRCh38]
Chr4:16177791 [GRCh37]
Chr4:4p15.32		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p15.32(chr4:15974221-16897124)x3 copy number gain See cases [RCV000510880] Chr4:15974221..16897124 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p15.32(chr4:15836236-16942209)x3 copy number gain See cases [RCV000510810] Chr4:15836236..16942209 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.32(chr4:16227703-16228345)x1 copy number loss not provided [RCV000743426] Chr4:16227703..16228345 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p15.32(chr4:16227703-16228345)x4 copy number gain not provided [RCV000743427] Chr4:16227703..16228345 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_153365.3(TAPT1):c.917-145TA[8] microsatellite not provided [RCV001537539] Chr4:16179788..16179789 [GRCh38]
Chr4:16181411..16181412 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-145TA[6] microsatellite not provided [RCV001581784] Chr4:16179789..16179790 [GRCh38]
Chr4:16181412..16181413 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.749-119A>G single nucleotide variant not provided [RCV001609551] Chr4:16186997 [GRCh38]
Chr4:16188620 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.997+79A>G single nucleotide variant not provided [RCV001667326] Chr4:16179498 [GRCh38]
Chr4:16181121 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-219dup duplication not provided [RCV001691446] Chr4:16166991..16166992 [GRCh38]
Chr4:16168614..16168615 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.613-241T>C single nucleotide variant not provided [RCV001724543] Chr4:16188596 [GRCh38]
Chr4:16190219 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-165A>G single nucleotide variant not provided [RCV001611164] Chr4:16166958 [GRCh38]
Chr4:16168581 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.309A>G (p.Arg103=) single nucleotide variant TAPT1-related condition [RCV003943265]|not provided [RCV000977834] Chr4:16213789 [GRCh38]
Chr4:16215412 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-145T>C single nucleotide variant not provided [RCV001709423] Chr4:16179802 [GRCh38]
Chr4:16181425 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1108-261A>G single nucleotide variant not provided [RCV001577095] Chr4:16174990 [GRCh38]
Chr4:16176613 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-147C>T single nucleotide variant not provided [RCV001611206] Chr4:16179804 [GRCh38]
Chr4:16181427 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-308A>T single nucleotide variant not provided [RCV001609006] Chr4:16167101 [GRCh38]
Chr4:16168724 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-219_1314-216dup duplication not provided [RCV001549930] Chr4:16166991..16166992 [GRCh38]
Chr4:16168614..16168615 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.346A>C (p.Ile116Leu) single nucleotide variant not provided [RCV000885159] Chr4:16202565 [GRCh38]
Chr4:16204188 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_153365.3(TAPT1):c.496G>T (p.Gly166Cys) single nucleotide variant not provided [RCV000880099] Chr4:16191477 [GRCh38]
Chr4:16193100 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1393G>A (p.Glu465Lys) single nucleotide variant not provided [RCV000968030] Chr4:16166714 [GRCh38]
Chr4:16168337 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_153365.3(TAPT1):c.306G>A (p.Leu102=) single nucleotide variant not provided [RCV000969019] Chr4:16213792 [GRCh38]
Chr4:16215415 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.12:g.8398067_17505522inv inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32		 pathogenic
NM_153365.3(TAPT1):c.414A>C (p.Leu138=) single nucleotide variant not provided [RCV000904085] Chr4:16202497 [GRCh38]
Chr4:16204120 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser) single nucleotide variant not provided [RCV000950118]|not specified [RCV001580065] Chr4:16163447 [GRCh38]
Chr4:16165070 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_153365.3(TAPT1):c.997+7C>A single nucleotide variant not provided [RCV000975033] Chr4:16179570 [GRCh38]
Chr4:16181193 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_153365.3(TAPT1):c.748+10T>C single nucleotide variant not provided [RCV000933182] Chr4:16188210 [GRCh38]
Chr4:16189833 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-3T>C single nucleotide variant not provided [RCV000894733] Chr4:16179660 [GRCh38]
Chr4:16181283 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.675A>G (p.Ala225=) single nucleotide variant not provided [RCV000969018] Chr4:16188293 [GRCh38]
Chr4:16189916 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.387G>C (p.Leu129=) single nucleotide variant not provided [RCV000927779] Chr4:16202524 [GRCh38]
Chr4:16204147 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
NM_153365.3(TAPT1):c.1599C>T (p.Asp533=) single nucleotide variant TAPT1-related condition [RCV003920777]|not provided [RCV000892173] Chr4:16163413 [GRCh38]
Chr4:16165036 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1413C>T (p.Pro471=) single nucleotide variant TAPT1-related condition [RCV003978399]|not provided [RCV000963140] Chr4:16166694 [GRCh38]
Chr4:16168317 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile) single nucleotide variant Complex lethal osteochondrodysplasia [RCV000851184]|not provided [RCV002536175] Chr4:16176194 [GRCh38]
Chr4:16177817 [GRCh37]
Chr4:4p15.32		 pathogenic|uncertain significance
NM_153365.3(TAPT1):c.704A>C (p.His235Pro) single nucleotide variant Inborn genetic diseases [RCV003291232] Chr4:16188264 [GRCh38]
Chr4:16189887 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.199+155_199+163del microsatellite not provided [RCV001549981] Chr4:16226096..16226104 [GRCh38]
Chr4:16227719..16227727 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.749-145A>G single nucleotide variant not provided [RCV001570937] Chr4:16187023 [GRCh38]
Chr4:16188646 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1314-219_1314-213dup duplication not provided [RCV001552460] Chr4:16166991..16166992 [GRCh38]
Chr4:16168614..16168615 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1474+10G>A single nucleotide variant not provided [RCV001574912] Chr4:16166623 [GRCh38]
Chr4:16168246 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_153365.3(TAPT1):c.1475-28C>T single nucleotide variant not provided [RCV001552471] Chr4:16163565 [GRCh38]
Chr4:16165188 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-146G>A single nucleotide variant not provided [RCV001621194] Chr4:16202726 [GRCh38]
Chr4:16204349 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-291A>T single nucleotide variant not provided [RCV001614945] Chr4:16167084 [GRCh38]
Chr4:16168707 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.12:g.16226554GCC[9] microsatellite not provided [RCV001660795] Chr4:16226553..16226554 [GRCh38]
Chr4:16228176..16228177 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-171T>C single nucleotide variant not provided [RCV001671516] Chr4:16179828 [GRCh38]
Chr4:16181451 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.613-158T>C single nucleotide variant not provided [RCV001562148] Chr4:16188513 [GRCh38]
Chr4:16190136 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.449+131C>A single nucleotide variant not provided [RCV001577369] Chr4:16202331 [GRCh38]
Chr4:16203954 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1107+79G>A single nucleotide variant not provided [RCV001594080] Chr4:16176040 [GRCh38]
Chr4:16177663 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-24del deletion not provided [RCV001689343] Chr4:16202604 [GRCh38]
Chr4:16204227 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.916+277T>C single nucleotide variant not provided [RCV001648998] Chr4:16186258 [GRCh38]
Chr4:16187881 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-290A>G single nucleotide variant not provided [RCV001676393] Chr4:16179947 [GRCh38]
Chr4:16181570 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1313+105G>A single nucleotide variant not provided [RCV001541210] Chr4:16170548 [GRCh38]
Chr4:16172171 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-177TA[3] microsatellite not provided [RCV001657615] Chr4:16179827..16179828 [GRCh38]
Chr4:16181450..16181451 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-301C>T single nucleotide variant not provided [RCV001724494] Chr4:16179958 [GRCh38]
Chr4:16181581 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-219_1314-218dup duplication not provided [RCV001708199] Chr4:16166991..16166992 [GRCh38]
Chr4:16168614..16168615 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.613-241T>A single nucleotide variant not provided [RCV001678750] Chr4:16188596 [GRCh38]
Chr4:16190219 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1401G>A (p.Leu467=) single nucleotide variant not provided [RCV000977398] Chr4:16166706 [GRCh38]
Chr4:16168329 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.615A>G (p.Val205=) single nucleotide variant not provided [RCV000931266] Chr4:16188353 [GRCh38]
Chr4:16189976 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2		 uncertain significance
NM_153365.3(TAPT1):c.1437G>A (p.Pro479=) single nucleotide variant not provided [RCV000913643] Chr4:16166670 [GRCh38]
Chr4:16168293 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1350G>A (p.Leu450=) single nucleotide variant not provided [RCV000911902] Chr4:16166757 [GRCh38]
Chr4:16168380 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.942T>C (p.Tyr314=) single nucleotide variant not provided [RCV000891477] Chr4:16179632 [GRCh38]
Chr4:16181255 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-147_917-146insCT insertion not provided [RCV001577319] Chr4:16179803..16179804 [GRCh38]
Chr4:16181426..16181427 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-147_917-144del deletion not provided [RCV001558790] Chr4:16179801..16179804 [GRCh38]
Chr4:16181424..16181427 [GRCh37]
Chr4:4p15.32		 likely benign
NC_000004.12:g.16226627G>A single nucleotide variant not provided [RCV001676087] Chr4:16226627 [GRCh38]
Chr4:16228250 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-148_917-147insACATATATATATATATATATAT insertion not provided [RCV001559543] Chr4:16179804..16179805 [GRCh38]
Chr4:16181427..16181428 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1108-189C>T single nucleotide variant not provided [RCV001559798] Chr4:16174918 [GRCh38]
Chr4:16176541 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.137T>A (p.Leu46His) single nucleotide variant Inborn genetic diseases [RCV003242501] Chr4:16226321 [GRCh38]
Chr4:16227944 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_153365.3(TAPT1):c.331-234A>G single nucleotide variant not provided [RCV001618149] Chr4:16202814 [GRCh38]
Chr4:16204437 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-301C>G single nucleotide variant not provided [RCV001657253] Chr4:16179958 [GRCh38]
Chr4:16181581 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1108-283T>C single nucleotide variant not provided [RCV001638738] Chr4:16175012 [GRCh38]
Chr4:16176635 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-248G>A single nucleotide variant not provided [RCV001636439] Chr4:16167041 [GRCh38]
Chr4:16168664 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1236+206G>A single nucleotide variant not provided [RCV001595792] Chr4:16173998 [GRCh38]
Chr4:16175621 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.450-94C>T single nucleotide variant not provided [RCV001657577] Chr4:16191617 [GRCh38]
Chr4:16193240 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.613-95A>C single nucleotide variant not provided [RCV001598054] Chr4:16188450 [GRCh38]
Chr4:16190073 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1313+95G>A single nucleotide variant not provided [RCV001686528] Chr4:16170558 [GRCh38]
Chr4:16172181 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1474+295G>A single nucleotide variant not provided [RCV001637711] Chr4:16166338 [GRCh38]
Chr4:16167961 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.200-334A>G single nucleotide variant not provided [RCV001698915] Chr4:16214232 [GRCh38]
Chr4:16215855 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.331-54T>C single nucleotide variant not provided [RCV001598391] Chr4:16202634 [GRCh38]
Chr4:16204257 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-169C>T single nucleotide variant not provided [RCV001621122] Chr4:16179826 [GRCh38]
Chr4:16181449 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.199+101T>C single nucleotide variant not provided [RCV001638261] Chr4:16226158 [GRCh38]
Chr4:16227781 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.331-153T>C single nucleotide variant not provided [RCV001638547] Chr4:16202733 [GRCh38]
Chr4:16204356 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32		 likely pathogenic
NM_153365.3(TAPT1):c.613-13T>A single nucleotide variant not provided [RCV001685731] Chr4:16188368 [GRCh38]
Chr4:16189991 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.916+265G>A single nucleotide variant not provided [RCV001724498] Chr4:16186270 [GRCh38]
Chr4:16187893 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg) single nucleotide variant Complex lethal osteochondrodysplasia [RCV001732217]|not provided [RCV001586432] Chr4:16226321 [GRCh38]
Chr4:16227944 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_153365.3(TAPT1):c.331-23C>T single nucleotide variant not provided [RCV001680793] Chr4:16202603 [GRCh38]
Chr4:16204226 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.331-190G>A single nucleotide variant not provided [RCV001614832] Chr4:16202770 [GRCh38]
Chr4:16204393 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1474+302G>A single nucleotide variant not provided [RCV001679930] Chr4:16166331 [GRCh38]
Chr4:16167954 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-96G>T single nucleotide variant not provided [RCV001649056] Chr4:16166889 [GRCh38]
Chr4:16168512 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.200-16A>C single nucleotide variant Complex lethal osteochondrodysplasia [RCV001815609]|not provided [RCV001671446] Chr4:16213914 [GRCh38]
Chr4:16215537 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1107+225T>C single nucleotide variant not provided [RCV001609990] Chr4:16175894 [GRCh38]
Chr4:16177517 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1313+252T>A single nucleotide variant not provided [RCV001640865] Chr4:16170401 [GRCh38]
Chr4:16172024 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-169CA[10] microsatellite not provided [RCV001616402] Chr4:16179803..16179806 [GRCh38]
Chr4:16181426..16181429 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.199+288T>C single nucleotide variant not provided [RCV001684842] Chr4:16225971 [GRCh38]
Chr4:16227594 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.916+23T>G single nucleotide variant not provided [RCV001546894] Chr4:16186512 [GRCh38]
Chr4:16188135 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.199+240G>A single nucleotide variant not provided [RCV001589916] Chr4:16226019 [GRCh38]
Chr4:16227642 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1107+258C>T single nucleotide variant not provided [RCV001685613] Chr4:16175861 [GRCh38]
Chr4:16177484 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.846+22C>T single nucleotide variant not provided [RCV001539584] Chr4:16186759 [GRCh38]
Chr4:16188382 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_153365.3(TAPT1):c.998-27C>T single nucleotide variant not provided [RCV001549333] Chr4:16176255 [GRCh38]
Chr4:16177878 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-191C>T single nucleotide variant not provided [RCV001568277] Chr4:16202771 [GRCh38]
Chr4:16204394 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_153365.3(TAPT1):c.1314-156C>A single nucleotide variant not provided [RCV001527943] Chr4:16166949 [GRCh38]
Chr4:16168572 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.11:g.(?_15964081)_(16172352_?)dup duplication not provided [RCV001324923] Chr4:15964081..16172352 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_153365.3(TAPT1):c.200-7T>C single nucleotide variant TAPT1-related condition [RCV003931008]|not provided [RCV001492653] Chr4:16213905 [GRCh38]
Chr4:16215528 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-148A>T single nucleotide variant not provided [RCV001538511] Chr4:16179805 [GRCh38]
Chr4:16181428 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.270G>A (p.Lys90=) single nucleotide variant not provided [RCV001643376] Chr4:16213828 [GRCh38]
Chr4:16215451 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-219_1314-217dup duplication not provided [RCV001587915] Chr4:16166991..16166992 [GRCh38]
Chr4:16168614..16168615 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-169CA[11] microsatellite not provided [RCV001612663] Chr4:16179803..16179804 [GRCh38]
Chr4:16181426..16181427 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-73A>G single nucleotide variant not provided [RCV001680004] Chr4:16166866 [GRCh38]
Chr4:16168489 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.12:g.16226554GCC[8] microsatellite not provided [RCV001611217] Chr4:16226553..16226554 [GRCh38]
Chr4:16228176..16228177 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1314-199del deletion not provided [RCV001651514] Chr4:16166992 [GRCh38]
Chr4:16168615 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.199+59C>T single nucleotide variant not provided [RCV001688470] Chr4:16226200 [GRCh38]
Chr4:16227823 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.331-34dup duplication not provided [RCV001652376] Chr4:16202603..16202604 [GRCh38]
Chr4:16204226..16204227 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.449+150A>G single nucleotide variant not provided [RCV001724501] Chr4:16202312 [GRCh38]
Chr4:16203935 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-130del deletion not provided [RCV001644251] Chr4:16179787 [GRCh38]
Chr4:16181410 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.917-21T>C single nucleotide variant not provided [RCV001724513] Chr4:16179678 [GRCh38]
Chr4:16181301 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.741C>G (p.Leu247=) single nucleotide variant not provided [RCV001406656] Chr4:16188227 [GRCh38]
Chr4:16189850 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.185_186del (p.Arg62fs) microsatellite Complex lethal osteochondrodysplasia [RCV001783846] Chr4:16226272..16226273 [GRCh38]
Chr4:16227895..16227896 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_153365.3(TAPT1):c.207A>G (p.Ser69=) single nucleotide variant not provided [RCV001769046] Chr4:16213891 [GRCh38]
Chr4:16215514 [GRCh37]
Chr4:4p15.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_153365.3(TAPT1):c.77G>A (p.Arg26His) single nucleotide variant not provided [RCV001988756] Chr4:16226381 [GRCh38]
Chr4:16228004 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.706_708del (p.Ile236del) deletion not provided [RCV001870918] Chr4:16188260..16188262 [GRCh38]
Chr4:16189883..16189885 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter) single nucleotide variant Complex lethal osteochondrodysplasia [RCV001844402] Chr4:16174681 [GRCh38]
Chr4:16176304 [GRCh37]
Chr4:4p15.32		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_153365.3(TAPT1):c.1468T>G (p.Ser490Ala) single nucleotide variant not provided [RCV001987447] Chr4:16166639 [GRCh38]
Chr4:16168262 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.30G>A (p.Pro10=) single nucleotide variant not provided [RCV002008438] Chr4:16226428 [GRCh38]
Chr4:16228051 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_153365.3(TAPT1):c.613-6_613-3del deletion not provided [RCV001969542] Chr4:16188358..16188361 [GRCh38]
Chr4:16189981..16189984 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.433C>A (p.Pro145Thr) single nucleotide variant not provided [RCV001928844] Chr4:16202478 [GRCh38]
Chr4:16204101 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.199+1G>A single nucleotide variant not provided [RCV002040445] Chr4:16226258 [GRCh38]
Chr4:16227881 [GRCh37]
Chr4:4p15.32		 likely pathogenic|uncertain significance
NM_153365.3(TAPT1):c.404T>C (p.Phe135Ser) single nucleotide variant not provided [RCV001964752] Chr4:16202507 [GRCh38]
Chr4:16204130 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_153365.3(TAPT1):c.1408C>G (p.Pro470Ala) single nucleotide variant not provided [RCV002043861] Chr4:16166699 [GRCh38]
Chr4:16168322 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 copy number gain not provided [RCV001834299] Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32		 likely pathogenic
NM_153365.3(TAPT1):c.478G>T (p.Val160Leu) single nucleotide variant not provided [RCV001983237] Chr4:16191495 [GRCh38]
Chr4:16193118 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.449+3A>C single nucleotide variant not provided [RCV001966558] Chr4:16202459 [GRCh38]
Chr4:16204082 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1314-18T>G single nucleotide variant not provided [RCV002019333] Chr4:16166811 [GRCh38]
Chr4:16168434 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_153365.3(TAPT1):c.182G>C (p.Arg61Thr) single nucleotide variant not provided [RCV001998770] Chr4:16226276 [GRCh38]
Chr4:16227899 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1054G>A (p.Val352Met) single nucleotide variant Inborn genetic diseases [RCV002564446]|not provided [RCV001963452] Chr4:16176172 [GRCh38]
Chr4:16177795 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1581G>C (p.Leu527Phe) single nucleotide variant not provided [RCV002037045] Chr4:16163431 [GRCh38]
Chr4:16165054 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.43G>T (p.Gly15Cys) single nucleotide variant not provided [RCV002013577] Chr4:16226415 [GRCh38]
Chr4:16228038 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1057G>A (p.Asp353Asn) single nucleotide variant not provided [RCV002019556] Chr4:16176169 [GRCh38]
Chr4:16177792 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1613C>T (p.Thr538Met) single nucleotide variant Inborn genetic diseases [RCV002563394]|not provided [RCV001937040] Chr4:16163399 [GRCh38]
Chr4:16165022 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1599C>A (p.Asp533Glu) single nucleotide variant not provided [RCV002045914] Chr4:16163413 [GRCh38]
Chr4:16165036 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1499C>T (p.Ser500Phe) single nucleotide variant Inborn genetic diseases [RCV002549026]|not provided [RCV002048750] Chr4:16163513 [GRCh38]
Chr4:16165136 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1414G>A (p.Ala472Thr) single nucleotide variant not provided [RCV001999287] Chr4:16166693 [GRCh38]
Chr4:16168316 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1161G>C (p.Gln387His) single nucleotide variant not provided [RCV002036807] Chr4:16174676 [GRCh38]
Chr4:16176299 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1190C>T (p.Ser397Phe) single nucleotide variant not provided [RCV002015736] Chr4:16174250 [GRCh38]
Chr4:16175873 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.50G>A (p.Gly17Asp) single nucleotide variant not provided [RCV002013846] Chr4:16226408 [GRCh38]
Chr4:16228031 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.257A>G (p.His86Arg) single nucleotide variant not provided [RCV002033505] Chr4:16213841 [GRCh38]
Chr4:16215464 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.707T>G (p.Ile236Ser) single nucleotide variant not provided [RCV001935904] Chr4:16188261 [GRCh38]
Chr4:16189884 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.694A>C (p.Lys232Gln) single nucleotide variant not provided [RCV002017881] Chr4:16188274 [GRCh38]
Chr4:16189897 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.72C>G (p.Asp24Glu) single nucleotide variant Inborn genetic diseases [RCV003170214]|not provided [RCV001997804] Chr4:16226386 [GRCh38]
Chr4:16228009 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.837G>A (p.Met279Ile) single nucleotide variant not provided [RCV002051407] Chr4:16186790 [GRCh38]
Chr4:16188413 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1090A>T (p.Asn364Tyr) single nucleotide variant not provided [RCV002027141] Chr4:16176136 [GRCh38]
Chr4:16177759 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.165C>G (p.Ser55Arg) single nucleotide variant not provided [RCV001991017] Chr4:16226293 [GRCh38]
Chr4:16227916 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.318A>G (p.Arg106=) single nucleotide variant not provided [RCV002191944] Chr4:16213780 [GRCh38]
Chr4:16215403 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.414A>G (p.Leu138=) single nucleotide variant not provided [RCV002110766] Chr4:16202497 [GRCh38]
Chr4:16204120 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1581G>A (p.Leu527=) single nucleotide variant not provided [RCV002169556] Chr4:16163431 [GRCh38]
Chr4:16165054 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.612+19C>A single nucleotide variant not provided [RCV002126251] Chr4:16191342 [GRCh38]
Chr4:16192965 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1474+12C>G single nucleotide variant not provided [RCV002188836] Chr4:16166621 [GRCh38]
Chr4:16168244 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1512C>G (p.Thr504=) single nucleotide variant not provided [RCV002145749] Chr4:16163500 [GRCh38]
Chr4:16165123 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1168-15T>C single nucleotide variant not provided [RCV002115924] Chr4:16174287 [GRCh38]
Chr4:16175910 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.831C>T (p.Ile277=) single nucleotide variant not provided [RCV002153645] Chr4:16186796 [GRCh38]
Chr4:16188419 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.15C>G (p.Gly5=) single nucleotide variant not provided [RCV002130691] Chr4:16226443 [GRCh38]
Chr4:16228066 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.199+9G>A single nucleotide variant not provided [RCV002131587] Chr4:16226250 [GRCh38]
Chr4:16227873 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.613-3dup duplication not provided [RCV002080476] Chr4:16188357..16188358 [GRCh38]
Chr4:16189980..16189981 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.449+15G>A single nucleotide variant not provided [RCV002212657] Chr4:16202447 [GRCh38]
Chr4:16204070 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.763C>T (p.Leu255Phe) single nucleotide variant not provided [RCV002215837] Chr4:16186864 [GRCh38]
Chr4:16188487 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1168-19T>C single nucleotide variant not provided [RCV002213024] Chr4:16174291 [GRCh38]
Chr4:16175914 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1614G>A (p.Thr538=) single nucleotide variant not provided [RCV002114373] Chr4:16163398 [GRCh38]
Chr4:16165021 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.114G>A (p.Gln38=) single nucleotide variant not provided [RCV002174746] Chr4:16226344 [GRCh38]
Chr4:16227967 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.30G>C (p.Pro10=) single nucleotide variant not provided [RCV002211792] Chr4:16226428 [GRCh38]
Chr4:16228051 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.998-15T>A single nucleotide variant not provided [RCV002149573] Chr4:16176243 [GRCh38]
Chr4:16177866 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.612+20C>T single nucleotide variant not provided [RCV002160030] Chr4:16191341 [GRCh38]
Chr4:16192964 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1167+20G>A single nucleotide variant not provided [RCV002175935] Chr4:16174650 [GRCh38]
Chr4:16176273 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV002140263] Chr4:16226452 [GRCh38]
Chr4:16228075 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.613-3del deletion not provided [RCV002137004] Chr4:16188358 [GRCh38]
Chr4:16189981 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.366G>A (p.Ala122=) single nucleotide variant not provided [RCV002157548] Chr4:16202545 [GRCh38]
Chr4:16204168 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-13T>C single nucleotide variant not provided [RCV002203431] Chr4:16202593 [GRCh38]
Chr4:16204216 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.917-8del deletion not provided [RCV002082216] Chr4:16179665 [GRCh38]
Chr4:16181288 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.322T>C (p.Leu108=) single nucleotide variant not provided [RCV002084312] Chr4:16213776 [GRCh38]
Chr4:16215399 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1314-14G>A single nucleotide variant not provided [RCV002204109] Chr4:16166807 [GRCh38]
Chr4:16168430 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.199+10G>A single nucleotide variant not provided [RCV002143235] Chr4:16226249 [GRCh38]
Chr4:16227872 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.846+8T>G single nucleotide variant not provided [RCV002204517] Chr4:16186773 [GRCh38]
Chr4:16188396 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.867T>C (p.Ser289=) single nucleotide variant not provided [RCV002176638] Chr4:16186584 [GRCh38]
Chr4:16188207 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1269G>A (p.Val423=) single nucleotide variant not provided [RCV003115263] Chr4:16170697 [GRCh38]
Chr4:16172320 [GRCh37]
Chr4:4p15.32		 likely benign
NC_000004.11:g.(?_16188138)_(16189998_?)dup duplication not provided [RCV003113759] Chr4:16188138..16189998 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_153365.3(TAPT1):c.1319T>C (p.Ile440Thr) single nucleotide variant not provided [RCV003123196] Chr4:16166788 [GRCh38]
Chr4:16168411 [GRCh37]
Chr4:4p15.32		 uncertain significance
NC_000004.11:g.(?_15477557)_(16228080_?)dup duplication Familial aplasia of the vermis [RCV003122492]|not provided [RCV003122491] Chr4:15477557..16228080 [GRCh37]
Chr4:4p15.32		 uncertain significance|no classifications from unflagged records
NM_153365.3(TAPT1):c.114G>C (p.Gln38His) single nucleotide variant Inborn genetic diseases [RCV003242499] Chr4:16226344 [GRCh38]
Chr4:16227967 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.12:g.16226530GCCCC[3] microsatellite not provided [RCV002286062] Chr4:16226528..16226529 [GRCh38]
Chr4:16228151..16228152 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1599C>G (p.Asp533Glu) single nucleotide variant not provided [RCV002291941] Chr4:16163413 [GRCh38]
Chr4:16165036 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.170G>T (p.Arg57Leu) single nucleotide variant not provided [RCV002614355] Chr4:16226288 [GRCh38]
Chr4:16227911 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.72C>A (p.Asp24Glu) single nucleotide variant not provided [RCV002302245] Chr4:16226386 [GRCh38]
Chr4:16228009 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.269A>G (p.Lys90Arg) single nucleotide variant Inborn genetic diseases [RCV002616301]|not provided [RCV002616302] Chr4:16213829 [GRCh38]
Chr4:16215452 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1317G>A (p.Leu439=) single nucleotide variant not provided [RCV002616697] Chr4:16166790 [GRCh38]
Chr4:16168413 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.915C>T (p.Ser305=) single nucleotide variant not provided [RCV002616698] Chr4:16186536 [GRCh38]
Chr4:16188159 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1198C>T (p.Arg400Trp) single nucleotide variant Inborn genetic diseases [RCV002727577] Chr4:16174242 [GRCh38]
Chr4:16175865 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.73G>A (p.Gly25Ser) single nucleotide variant not provided [RCV002776251] Chr4:16226385 [GRCh38]
Chr4:16228008 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.154T>C (p.Phe52Leu) single nucleotide variant Inborn genetic diseases [RCV002882743] Chr4:16226304 [GRCh38]
Chr4:16227927 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.917-8dup duplication not provided [RCV002616150] Chr4:16179664..16179665 [GRCh38]
Chr4:16181287..16181288 [GRCh37]
Chr4:4p15.32		 benign
NM_153365.3(TAPT1):c.1531A>G (p.Lys511Glu) single nucleotide variant Inborn genetic diseases [RCV002906730] Chr4:16163481 [GRCh38]
Chr4:16165104 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1436C>T (p.Pro479Leu) single nucleotide variant Inborn genetic diseases [RCV002882358] Chr4:16166671 [GRCh38]
Chr4:16168294 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.331-15_331-13del deletion not provided [RCV002816208] Chr4:16202593..16202595 [GRCh38]
Chr4:16204216..16204218 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.604A>G (p.Met202Val) single nucleotide variant not provided [RCV002731349] Chr4:16191369 [GRCh38]
Chr4:16192992 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.815A>G (p.Lys272Arg) single nucleotide variant not provided [RCV002615513] Chr4:16186812 [GRCh38]
Chr4:16188435 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.121C>T (p.Pro41Ser) single nucleotide variant Inborn genetic diseases [RCV002703872] Chr4:16226337 [GRCh38]
Chr4:16227960 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.650T>C (p.Ile217Thr) single nucleotide variant not provided [RCV002705763] Chr4:16188318 [GRCh38]
Chr4:16189941 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1474G>A (p.Gly492Ser) single nucleotide variant not provided [RCV002780533] Chr4:16166633 [GRCh38]
Chr4:16168256 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.612+14_612+16dup duplication not provided [RCV003020033] Chr4:16191344..16191345 [GRCh38]
Chr4:16192967..16192968 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1252A>T (p.Thr418Ser) single nucleotide variant not provided [RCV002637905] Chr4:16170714 [GRCh38]
Chr4:16172337 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1167+11A>G single nucleotide variant not provided [RCV002571673] Chr4:16174659 [GRCh38]
Chr4:16176282 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.330+9T>G single nucleotide variant not provided [RCV002736547] Chr4:16213759 [GRCh38]
Chr4:16215382 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.120C>T (p.Pro40=) single nucleotide variant not provided [RCV002638927] Chr4:16226338 [GRCh38]
Chr4:16227961 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1522A>G (p.Ile508Val) single nucleotide variant not provided [RCV002820667] Chr4:16163490 [GRCh38]
Chr4:16165113 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.917-7C>T single nucleotide variant not provided [RCV002872330] Chr4:16179664 [GRCh38]
Chr4:16181287 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.852T>C (p.Val284=) single nucleotide variant not provided [RCV003026249] Chr4:16186599 [GRCh38]
Chr4:16188222 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.612+20C>G single nucleotide variant not provided [RCV002954107] Chr4:16191341 [GRCh38]
Chr4:16192964 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.847-13T>C single nucleotide variant not provided [RCV002593911] Chr4:16186617 [GRCh38]
Chr4:16188240 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1103C>T (p.Ala368Val) single nucleotide variant Inborn genetic diseases [RCV002873270] Chr4:16176123 [GRCh38]
Chr4:16177746 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.331-20C>T single nucleotide variant not provided [RCV002786644] Chr4:16202600 [GRCh38]
Chr4:16204223 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.70G>A (p.Asp24Asn) single nucleotide variant not provided [RCV002790860] Chr4:16226388 [GRCh38]
Chr4:16228011 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.122C>T (p.Pro41Leu) single nucleotide variant not provided [RCV002852624] Chr4:16226336 [GRCh38]
Chr4:16227959 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1543A>G (p.Ile515Val) single nucleotide variant Inborn genetic diseases [RCV002767525] Chr4:16163469 [GRCh38]
Chr4:16165092 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.474C>A (p.Ala158=) single nucleotide variant not provided [RCV003040032] Chr4:16191499 [GRCh38]
Chr4:16193122 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-15C>T single nucleotide variant not provided [RCV002720963] Chr4:16202595 [GRCh38]
Chr4:16204218 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1362G>A (p.Ser454=) single nucleotide variant not provided [RCV002597423] Chr4:16166745 [GRCh38]
Chr4:16168368 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-15del deletion not provided [RCV002716168] Chr4:16202595 [GRCh38]
Chr4:16204218 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1168-10C>A single nucleotide variant not provided [RCV002898720] Chr4:16174282 [GRCh38]
Chr4:16175905 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.829A>G (p.Ile277Val) single nucleotide variant not provided [RCV002900204] Chr4:16186798 [GRCh38]
Chr4:16188421 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1322C>T (p.Ser441Phe) single nucleotide variant not provided [RCV003028323] Chr4:16166785 [GRCh38]
Chr4:16168408 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1411C>G (p.Pro471Ala) single nucleotide variant not provided [RCV002675706] Chr4:16166696 [GRCh38]
Chr4:16168319 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.123G>A (p.Pro41=) single nucleotide variant not provided [RCV002600476] Chr4:16226335 [GRCh38]
Chr4:16227958 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.5C>A (p.Ala2Glu) single nucleotide variant not provided [RCV002721755] Chr4:16226453 [GRCh38]
Chr4:16228076 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.749-5A>G single nucleotide variant not provided [RCV002583427] Chr4:16186883 [GRCh38]
Chr4:16188506 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1119A>G (p.Glu373=) single nucleotide variant not provided [RCV002605358] Chr4:16174718 [GRCh38]
Chr4:16176341 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.449+14C>A single nucleotide variant not provided [RCV002583516] Chr4:16202448 [GRCh38]
Chr4:16204071 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.365C>T (p.Ala122Val) single nucleotide variant Inborn genetic diseases [RCV003368027]|not provided [RCV002607857] Chr4:16202546 [GRCh38]
Chr4:16204169 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp) single nucleotide variant Short stature [RCV003224931] Chr4:16213775 [GRCh38]
Chr4:16215398 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.917-148_917-147insACACATATATATATATATATATATAT microsatellite not provided [RCV003225526] Chr4:16179804..16179805 [GRCh38]
Chr4:16181427..16181428 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1028G>A (p.Cys343Tyr) single nucleotide variant Inborn genetic diseases [RCV003203142] Chr4:16176198 [GRCh38]
Chr4:16177821 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.64C>G (p.Gln22Glu) single nucleotide variant Inborn genetic diseases [RCV003302481] Chr4:16226394 [GRCh38]
Chr4:16228017 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 copy number loss not provided [RCV003485415] Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2		 likely pathogenic
NM_153365.3(TAPT1):c.1474+13C>A single nucleotide variant not provided [RCV003875183] Chr4:16166620 [GRCh38]
Chr4:16168243 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.-1C>T single nucleotide variant not provided [RCV003481726] Chr4:16226458 [GRCh38]
Chr4:16228081 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1314-15T>C single nucleotide variant not provided [RCV003826045] Chr4:16166808 [GRCh38]
Chr4:16168431 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.394T>C (p.Leu132=) single nucleotide variant not provided [RCV003830559] Chr4:16202517 [GRCh38]
Chr4:16204140 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.450-9A>G single nucleotide variant not provided [RCV003543933] Chr4:16191532 [GRCh38]
Chr4:16193155 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.51C>T (p.Gly17=) single nucleotide variant not provided [RCV003826860] Chr4:16226407 [GRCh38]
Chr4:16228030 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.998-17C>T single nucleotide variant not provided [RCV003689224] Chr4:16176245 [GRCh38]
Chr4:16177868 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.135G>A (p.Gln45=) single nucleotide variant not provided [RCV003852305] Chr4:16226323 [GRCh38]
Chr4:16227946 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1044A>G (p.Ser348=) single nucleotide variant not provided [RCV003557656] Chr4:16176182 [GRCh38]
Chr4:16177805 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.324G>A (p.Leu108=) single nucleotide variant not provided [RCV003832569] Chr4:16213774 [GRCh38]
Chr4:16215397 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.846+18C>T single nucleotide variant not provided [RCV003811560] Chr4:16186763 [GRCh38]
Chr4:16188386 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1107+1_1107+8del deletion not provided [RCV003672710] Chr4:16176111..16176118 [GRCh38]
Chr4:16177734..16177741 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_153365.3(TAPT1):c.199+8G>A single nucleotide variant not provided [RCV003839826] Chr4:16226251 [GRCh38]
Chr4:16227874 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.954G>C (p.Leu318=) single nucleotide variant not provided [RCV003839214] Chr4:16179620 [GRCh38]
Chr4:16181243 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1209C>T (p.Gly403=) single nucleotide variant not provided [RCV003671544] Chr4:16174231 [GRCh38]
Chr4:16175854 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.420G>A (p.Arg140=) single nucleotide variant not provided [RCV003832317] Chr4:16202491 [GRCh38]
Chr4:16204114 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.576C>T (p.Ser192=) single nucleotide variant not provided [RCV003836575] Chr4:16191397 [GRCh38]
Chr4:16193020 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.588C>G (p.Leu196=) single nucleotide variant not provided [RCV003664179] Chr4:16191385 [GRCh38]
Chr4:16193008 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.846+17T>C single nucleotide variant not provided [RCV003682341] Chr4:16186764 [GRCh38]
Chr4:16188387 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.331-18C>T single nucleotide variant not provided [RCV003819678] Chr4:16202598 [GRCh38]
Chr4:16204221 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.358C>T (p.Leu120=) single nucleotide variant not provided [RCV003563117] Chr4:16202553 [GRCh38]
Chr4:16204176 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1467C>T (p.Pro489=) single nucleotide variant not provided [RCV003865265] Chr4:16166640 [GRCh38]
Chr4:16168263 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_153365.3(TAPT1):c.997+20A>G single nucleotide variant not provided [RCV003869745] Chr4:16179557 [GRCh38]
Chr4:16181180 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_153365.3(TAPT1):c.917-7C>G single nucleotide variant not provided [RCV003845292] Chr4:16179664 [GRCh38]
Chr4:16181287 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.44G>A (p.Gly15Asp) single nucleotide variant not provided [RCV003862883] Chr4:16226414 [GRCh38]
Chr4:16228037 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1053C>T (p.Ala351=) single nucleotide variant not provided [RCV003848601] Chr4:16176173 [GRCh38]
Chr4:16177796 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.998-17_998-9dup duplication not provided [RCV003844090] Chr4:16176236..16176237 [GRCh38]
Chr4:16177859..16177860 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1395G>A (p.Glu465=) single nucleotide variant not provided [RCV003679838] Chr4:16166712 [GRCh38]
Chr4:16168335 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003674787] Chr4:16226457 [GRCh38]
Chr4:16228080 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_153365.3(TAPT1):c.1497G>A (p.Leu499=) single nucleotide variant not provided [RCV003861280] Chr4:16163515 [GRCh38]
Chr4:16165138 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1107+10T>C single nucleotide variant TAPT1-related condition [RCV003936860] Chr4:16176109 [GRCh38]
Chr4:16177732 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1314-10C>G single nucleotide variant TAPT1-related condition [RCV003899765] Chr4:16166803 [GRCh38]
Chr4:16168426 [GRCh37]
Chr4:4p15.32		 likely benign
NM_153365.3(TAPT1):c.1233T>C (p.Val411=) single nucleotide variant TAPT1-related condition [RCV003894248] Chr4:16174207 [GRCh38]
Chr4:16175830 [GRCh37]
Chr4:4p15.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3510
Count of miRNA genes:1228
Interacting mature miRNAs:1550
Transcripts:ENST00000304584, ENST00000399920, ENST00000405303, ENST00000488714, ENST00000503858, ENST00000504281, ENST00000505152, ENST00000505317, ENST00000505603, ENST00000507425, ENST00000507728, ENST00000508886, ENST00000508888, ENST00000510868, ENST00000511156, ENST00000511866, ENST00000513359, ENST00000513782, ENST00000513833
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-24737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,162,941 - 16,163,068UniSTSGRCh37
Build 36415,772,039 - 15,772,166RGDNCBI36
Celera416,627,505 - 16,627,632RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,512,524 - 15,512,651UniSTS
TNG Radiation Hybrid Map410712.0UniSTS
GeneMap99-GB4 RH Map478.23UniSTS
Whitehead-RH Map486.3UniSTS
NCBI RH Map4132.7UniSTS
GeneMap99-G3 RH Map4995.0UniSTS
RH69420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,162,147 - 16,162,267UniSTSGRCh37
Build 36415,771,245 - 15,771,365RGDNCBI36
Celera416,626,711 - 16,626,831RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,511,730 - 15,511,850UniSTS
GeneMap99-GB4 RH Map471.17UniSTS
SHGC-67911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,224,276 - 16,224,387UniSTSGRCh37
Build 36415,833,374 - 15,833,485RGDNCBI36
Celera416,689,627 - 16,689,738RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,573,849 - 15,573,960UniSTS
GeneMap99-GB4 RH Map471.38UniSTS
NCBI RH Map4126.4UniSTS
D4S479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,192,997 - 16,193,232UniSTSGRCh37
Build 36415,802,095 - 15,802,330RGDNCBI36
Celera416,657,564 - 16,657,799RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,542,580 - 15,542,815UniSTS
SHGC-67683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,164,139 - 16,164,292UniSTSGRCh37
Build 36415,773,237 - 15,773,390RGDNCBI36
Celera416,628,703 - 16,628,858RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,513,722 - 15,513,875UniSTS
GeneMap99-GB4 RH Map476.61UniSTS
NCBI RH Map4208.1UniSTS


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
High
Medium 1638 1387 1512 337 633 291 3256 1609 2815 205 1153 1390 49 890 2365 1
Low 794 1594 212 285 1311 173 1100 584 897 213 297 220 122 1 314 423 3
Below cutoff 4 1 5 1 1 12 5 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_925318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA811306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB461077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000405303   ⟹   ENSP00000385347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,160,505 - 16,226,471 (-)Ensembl
RefSeq Acc Id: ENST00000488714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,176,151 - 16,176,790 (-)Ensembl
RefSeq Acc Id: ENST00000503858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,163,252 - 16,166,872 (-)Ensembl
RefSeq Acc Id: ENST00000504281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,179,490 - 16,186,814 (-)Ensembl
RefSeq Acc Id: ENST00000505152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,188,223 - 16,214,633 (-)Ensembl
RefSeq Acc Id: ENST00000505317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,190,339 - 16,226,449 (-)Ensembl
RefSeq Acc Id: ENST00000505603   ⟹   ENSP00000422652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,163,261 - 16,226,471 (-)Ensembl
RefSeq Acc Id: ENST00000507425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,179,393 - 16,191,448 (-)Ensembl
RefSeq Acc Id: ENST00000507728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,166,673 - 16,175,041 (-)Ensembl
RefSeq Acc Id: ENST00000508886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,163,368 - 16,174,548 (-)Ensembl
RefSeq Acc Id: ENST00000508888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,186,781 - 16,216,170 (-)Ensembl
RefSeq Acc Id: ENST00000510868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,188,217 - 16,226,030 (-)Ensembl
RefSeq Acc Id: ENST00000511156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,202,539 - 16,226,060 (-)Ensembl
RefSeq Acc Id: ENST00000511866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,188,232 - 16,196,723 (-)Ensembl
RefSeq Acc Id: ENST00000513359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,186,781 - 16,227,410 (-)Ensembl
RefSeq Acc Id: ENST00000513782   ⟹   ENSP00000423359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,163,296 - 16,191,484 (-)Ensembl
RefSeq Acc Id: ENST00000513833   ⟹   ENSP00000422752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,188,275 - 16,202,582 (-)Ensembl
RefSeq Acc Id: NM_153365   ⟹   NP_699196
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,226,471 (-)NCBI
GRCh37416,162,128 - 16,228,161 (-)RGD
Build 36415,771,226 - 15,837,259 (-)NCBI Archive
Celera416,626,692 - 16,693,512 (-)RGD
HuRef415,511,711 - 15,593,606 (-)RGD
CHM1_1416,160,072 - 16,226,096 (-)NCBI
T2T-CHM13v2.0416,142,386 - 16,208,342 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513812   ⟹   XP_011512114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,226,471 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513816   ⟹   XP_011512118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,226,471 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513817   ⟹   XP_011512119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,190,114 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449754   ⟹   XP_047305710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,227,390 (-)NCBI
RefSeq Acc Id: XM_047449755   ⟹   XP_047305711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,215,076 (-)NCBI
RefSeq Acc Id: XM_047449756   ⟹   XP_047305712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,202,551 (-)NCBI
RefSeq Acc Id: XM_047449757   ⟹   XP_047305713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,160,505 - 16,202,337 (-)NCBI
RefSeq Acc Id: XM_047449758   ⟹   XP_047305714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,166,633 - 16,226,471 (-)NCBI
RefSeq Acc Id: XM_047449759   ⟹   XP_047305715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,166,633 - 16,226,471 (-)NCBI
RefSeq Acc Id: XM_054349175   ⟹   XP_054205150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,208,342 (-)NCBI
RefSeq Acc Id: XM_054349176   ⟹   XP_054205151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,208,342 (-)NCBI
RefSeq Acc Id: XM_054349177   ⟹   XP_054205152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,209,261 (-)NCBI
RefSeq Acc Id: XM_054349178   ⟹   XP_054205153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,196,932 (-)NCBI
RefSeq Acc Id: XM_054349179   ⟹   XP_054205154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,184,422 (-)NCBI
RefSeq Acc Id: XM_054349180   ⟹   XP_054205155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,184,208 (-)NCBI
RefSeq Acc Id: XM_054349181   ⟹   XP_054205156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,148,516 - 16,208,342 (-)NCBI
RefSeq Acc Id: XM_054349182   ⟹   XP_054205157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,148,516 - 16,208,342 (-)NCBI
RefSeq Acc Id: XM_054349183   ⟹   XP_054205158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0416,142,386 - 16,171,998 (-)NCBI
Protein Sequences
Protein RefSeqs NP_699196 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512114 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512118 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512119 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305710 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305711 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305712 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305713 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305714 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205153 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205154 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205155 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205156 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205157 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205158 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF28308 (Get FASTA)   NCBI Sequence Viewer  
  AAH66899 (Get FASTA)   NCBI Sequence Viewer  
  BAC11022 (Get FASTA)   NCBI Sequence Viewer  
  BAG58855 (Get FASTA)   NCBI Sequence Viewer  
  BAG61211 (Get FASTA)   NCBI Sequence Viewer  
  CAF86657 (Get FASTA)   NCBI Sequence Viewer  
  CAH05437 (Get FASTA)   NCBI Sequence Viewer  
  EAW92754 (Get FASTA)   NCBI Sequence Viewer  
  EAW92755 (Get FASTA)   NCBI Sequence Viewer  
  EAW92756 (Get FASTA)   NCBI Sequence Viewer  
  EAW92757 (Get FASTA)   NCBI Sequence Viewer  
  EAW92758 (Get FASTA)   NCBI Sequence Viewer  
  EAW92759 (Get FASTA)   NCBI Sequence Viewer  
  EAW92760 (Get FASTA)   NCBI Sequence Viewer  
  EAW92761 (Get FASTA)   NCBI Sequence Viewer  
  EAW92762 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000385347
  ENSP00000385347.2
  ENSP00000422652.1
  ENSP00000422752.1
  ENSP00000423359.1
GenBank Protein Q6NXT6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_699196   ⟸   NM_153365
- UniProtKB: Q8N2S3 (UniProtKB/Swiss-Prot),   Q9NZK9 (UniProtKB/Swiss-Prot),   Q6NXT6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512114   ⟸   XM_011513812
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512118   ⟸   XM_011513816
- Peptide Label: isoform X2
- UniProtKB: B4DJJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512119   ⟸   XM_011513817
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000422652   ⟸   ENST00000505603
RefSeq Acc Id: ENSP00000385347   ⟸   ENST00000405303
RefSeq Acc Id: ENSP00000422752   ⟸   ENST00000513833
RefSeq Acc Id: ENSP00000423359   ⟸   ENST00000513782
RefSeq Acc Id: XP_047305710   ⟸   XM_047449754
- Peptide Label: isoform X2
- UniProtKB: B4DJJ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305711   ⟸   XM_047449755
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047305712   ⟸   XM_047449756
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047305713   ⟸   XM_047449757
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047305715   ⟸   XM_047449759
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047305714   ⟸   XM_047449758
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054205152   ⟸   XM_054349177
- Peptide Label: isoform X2
- UniProtKB: B4DJJ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205151   ⟸   XM_054349176
- Peptide Label: isoform X2
- UniProtKB: B4DJJ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205150   ⟸   XM_054349175
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205153   ⟸   XM_054349178
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054205154   ⟸   XM_054349179
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054205155   ⟸   XM_054349180
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054205158   ⟸   XM_054349183
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054205157   ⟸   XM_054349182
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054205156   ⟸   XM_054349181
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6NXT6-F1-model_v2 AlphaFold Q6NXT6 1-567 view protein structure

Promoters
RGD ID:6802645
Promoter ID:HG_KWN:47925
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:ENST00000304584,   ENST00000399920,   NM_153365,   NR_027696,   NR_027697,   UC003GOW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36415,835,991 - 15,837,307 (-)MPROMDB
RGD ID:6867086
Promoter ID:EPDNEW_H6708
Type:initiation region
Name:TAPT1_1
Description:transmembrane anterior posterior transformation 1
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
GRCh38416,226,471 - 16,226,531EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26887 AgrOrtholog
COSMIC TAPT1 COSMIC
Ensembl Genes ENSG00000169762 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000405303 ENTREZGENE
  ENST00000405303.7 UniProtKB/Swiss-Prot
  ENST00000505603.5 UniProtKB/TrEMBL
  ENST00000513782.1 UniProtKB/TrEMBL
  ENST00000513833.1 UniProtKB/TrEMBL
GTEx ENSG00000169762 GTEx
HGNC ID HGNC:26887 ENTREZGENE
Human Proteome Map TAPT1 Human Proteome Map
InterPro Tatp1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:202018 UniProtKB/Swiss-Prot
NCBI Gene 202018 ENTREZGENE
OMIM 612758 OMIM
PANTHER PTHR13317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE ANTERIOR POSTERIOR TRANSFORMATION PROTEIN 1 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF747 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162405167 PharmGKB
UniProt B4DJJ3 ENTREZGENE, UniProtKB/TrEMBL
  D6RBK3_HUMAN UniProtKB/TrEMBL
  H0Y916_HUMAN UniProtKB/TrEMBL
  H0Y985_HUMAN UniProtKB/TrEMBL
  Q6NXT6 ENTREZGENE
  Q8N2S3 ENTREZGENE
  Q9NZK9 ENTREZGENE
  TAPT1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8N2S3 UniProtKB/Swiss-Prot
  Q9NZK9 UniProtKB/Swiss-Prot