TRAM1 (translocation associated membrane protein 1) - Rat Genome Database

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Gene: TRAM1 (translocation associated membrane protein 1) Homo sapiens
Analyze
Symbol: TRAM1
Name: translocation associated membrane protein 1
RGD ID: 1346981
HGNC Page HGNC:20568
Description: Predicted to enable signaling receptor activity. Involved in cotranslational protein targeting to membrane; protein insertion into ER membrane; and response to unfolded protein. Located in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PNAS-8; PNAS8; PRO1292; TRAM; TRAMP; translocating chain-associated membrane protein 1; translocating chain-associating membrane protein; translocation-associating membrane protein 1
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
GRCh38870,573,218 - 70,608,416 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl870,573,218 - 70,608,416 (-)EnsemblGRCh38hg38GRCh38
GRCh37871,485,453 - 71,520,651 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36871,648,227 - 71,683,158 (-)NCBINCBI36Build 36hg18NCBI36
Build 34871,648,226 - 71,683,158NCBI
Celera867,483,078 - 67,518,322 (-)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef866,978,304 - 67,013,532 (-)NCBIHuRef
CHM1_1871,541,019 - 71,576,230 (-)NCBICHM1_1
T2T-CHM13v2.0871,003,150 - 71,038,323 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
endoplasmic reticulum  (IDA,IEA,TAS)
endoplasmic reticulum membrane  (IDA,IEA,ISS)
membrane  (IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1315419   PMID:1315422   PMID:8616892   PMID:9506517   PMID:11014206   PMID:12475939   PMID:12477932   PMID:12612084   PMID:15489334   PMID:16565220   PMID:17081983   PMID:18555783  
PMID:19121997   PMID:19322201   PMID:19423540   PMID:20331378   PMID:20406964   PMID:20430023   PMID:20438785   PMID:20588308   PMID:21103663   PMID:21516116   PMID:21832049   PMID:21873635  
PMID:22810586   PMID:23247143   PMID:25600807   PMID:26389662   PMID:26496610   PMID:26638075   PMID:27025967   PMID:27432908   PMID:28190767   PMID:28298427   PMID:28443643   PMID:29509190  
PMID:30804502   PMID:30833792   PMID:31056421   PMID:31091453   PMID:31527615   PMID:31985874   PMID:32296183   PMID:32707033   PMID:32807901   PMID:33144569   PMID:33957083   PMID:33961781  
PMID:34186245   PMID:34709727   PMID:34764360   PMID:34793833   PMID:35256949   PMID:35271311   PMID:35696571   PMID:35850772   PMID:35944360   PMID:36114006   PMID:36215168   PMID:37768083  
PMID:38070861  


Genomics

Comparative Map Data
TRAM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38870,573,218 - 70,608,416 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl870,573,218 - 70,608,416 (-)EnsemblGRCh38hg38GRCh38
GRCh37871,485,453 - 71,520,651 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36871,648,227 - 71,683,158 (-)NCBINCBI36Build 36hg18NCBI36
Build 34871,648,226 - 71,683,158NCBI
Celera867,483,078 - 67,518,322 (-)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef866,978,304 - 67,013,532 (-)NCBIHuRef
CHM1_1871,541,019 - 71,576,230 (-)NCBICHM1_1
T2T-CHM13v2.0871,003,150 - 71,038,323 (-)NCBIT2T-CHM13v2.0
Tram1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39113,634,917 - 13,660,134 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl113,634,922 - 13,660,134 (-)EnsemblGRCm39 Ensembl
GRCm38113,564,693 - 13,589,910 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl113,564,698 - 13,589,910 (-)EnsemblGRCm38mm10GRCm38
MGSCv37113,554,783 - 13,579,945 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36113,549,916 - 13,575,078 (-)NCBIMGSCv36mm8
Celera113,514,581 - 13,539,714 (-)NCBICelera
Cytogenetic Map1A3NCBI
cM Map14.18NCBI
Tram1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8510,425,710 - 10,450,669 (+)NCBIGRCr8
mRatBN7.255,642,579 - 5,667,666 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl55,642,546 - 5,686,971 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx57,780,736 - 7,805,759 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.059,419,625 - 9,444,647 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.059,110,778 - 9,135,758 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.055,215,196 - 5,297,337 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl55,215,196 - 5,316,685 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0510,062,171 - 10,062,451 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0510,121,579 - 10,138,210 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.454,844,208 - 4,869,207 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.154,844,207 - 4,869,206 (+)NCBI
Celera55,235,381 - 5,252,006 (+)NCBICelera
Cytogenetic Map5q11NCBI
Tram1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554449,110,807 - 9,152,125 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554449,110,533 - 9,153,585 (+)NCBIChiLan1.0ChiLan1.0
TRAM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2786,306,766 - 86,342,548 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1861,936,216 - 61,972,011 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0867,098,588 - 67,133,511 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1868,759,038 - 68,793,750 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl868,759,040 - 68,794,303 (-)Ensemblpanpan1.1panPan2
TRAM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12919,669,622 - 19,703,707 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2919,669,628 - 19,703,669 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2919,929,189 - 19,963,216 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02919,766,644 - 19,800,987 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2919,766,644 - 19,800,983 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12919,804,740 - 19,838,512 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02919,871,008 - 19,905,124 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02920,151,950 - 20,186,017 (-)NCBIUU_Cfam_GSD_1.0
Tram1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530359,528,340 - 59,551,780 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649615,233,631 - 15,257,140 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649615,233,692 - 15,257,085 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRAM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl464,768,698 - 64,800,508 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1464,768,600 - 64,800,513 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2470,399,155 - 70,431,001 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRAM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1866,312,103 - 66,344,738 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl866,311,614 - 66,344,840 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603975,081,633 - 75,114,264 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tram1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474420,619,043 - 20,653,438 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474420,618,963 - 20,653,285 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRAM1
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1 copy number loss See cases [RCV000050801] Chr8:68488015..71476177 [GRCh38]
Chr8:69400250..72388412 [GRCh37]
Chr8:69562804..72550966 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
NM_014294.5(TRAM1):c.426+353G>C single nucleotide variant Lung cancer [RCV000107648] Chr8:70597542 [GRCh38]
Chr8:71509777 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1 copy number loss See cases [RCV000134801] Chr8:68987881..71640028 [GRCh38]
Chr8:69900116..72552263 [GRCh37]
Chr8:70062670..72714817 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1 copy number loss See cases [RCV000138251] Chr8:68987835..71663466 [GRCh38]
Chr8:69900070..72575701 [GRCh37]
Chr8:70062624..72738255 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1 copy number loss See cases [RCV000240421] Chr8:69955127..72552241 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000446721] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71077789-72943097)x3 copy number gain See cases [RCV000446539] Chr8:71077789..72943097 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000510185] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014294.6(TRAM1):c.410C>T (p.Thr137Ile) single nucleotide variant Inborn genetic diseases [RCV003256586] Chr8:70597911 [GRCh38]
Chr8:71510146 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_014294.6(TRAM1):c.286G>A (p.Val96Ile) single nucleotide variant Inborn genetic diseases [RCV003245841] Chr8:70598157 [GRCh38]
Chr8:71510392 [GRCh37]
Chr8:8q13.3
likely benign
NM_014294.6(TRAM1):c.551A>G (p.Tyr184Cys) single nucleotide variant Inborn genetic diseases [RCV003262771] Chr8:70594525 [GRCh38]
Chr8:71506760 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_014294.6(TRAM1):c.94A>G (p.Met32Val) single nucleotide variant Inborn genetic diseases [RCV003280268] Chr8:70608106 [GRCh38]
Chr8:71520341 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:71198990-71920676)x1 copy number loss See cases [RCV000512294] Chr8:71198990..71920676 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014294.6(TRAM1):c.430A>G (p.Asn144Asp) single nucleotide variant not provided [RCV000972262] Chr8:70596318 [GRCh38]
Chr8:71508553 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71475270-71849895)x1 copy number loss not provided [RCV000846385] Chr8:71475270..71849895 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3 copy number gain not provided [RCV001006112] Chr8:70848713..71632067 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71244655-71685822)x3 copy number gain not provided [RCV001258414] Chr8:71244655..71685822 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1 copy number loss not provided [RCV001827961] Chr8:69894553..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645) copy number loss not specified [RCV002053771] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NM_014294.6(TRAM1):c.508A>G (p.Ile170Val) single nucleotide variant Inborn genetic diseases [RCV002970574] Chr8:70594568 [GRCh38]
Chr8:71506803 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_014294.6(TRAM1):c.400G>A (p.Val134Ile) single nucleotide variant Inborn genetic diseases [RCV002773911] Chr8:70597921 [GRCh38]
Chr8:71510156 [GRCh37]
Chr8:8q13.3
likely benign
NM_014294.6(TRAM1):c.622G>A (p.Ala208Thr) single nucleotide variant Inborn genetic diseases [RCV002708394] Chr8:70587125 [GRCh38]
Chr8:71499360 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_014294.6(TRAM1):c.254T>G (p.Phe85Cys) single nucleotide variant Inborn genetic diseases [RCV002896083] Chr8:70598189 [GRCh38]
Chr8:71510424 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_014294.6(TRAM1):c.916G>A (p.Val306Ile) single nucleotide variant Inborn genetic diseases [RCV002678085] Chr8:70583299 [GRCh38]
Chr8:71495534 [GRCh37]
Chr8:8q13.3
likely benign
NM_014294.6(TRAM1):c.1004A>G (p.Lys335Arg) single nucleotide variant Inborn genetic diseases [RCV003200636] Chr8:70583211 [GRCh38]
Chr8:71495446 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_014294.6(TRAM1):c.1037C>A (p.Ser346Tyr) single nucleotide variant Inborn genetic diseases [RCV003218756] Chr8:70583178 [GRCh38]
Chr8:71495413 [GRCh37]
Chr8:8q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1168
Count of miRNA genes:504
Interacting mature miRNAs:548
Transcripts:ENST00000262213, ENST00000518678, ENST00000520700, ENST00000521049, ENST00000521425, ENST00000536748
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
G62123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37871,486,054 - 71,486,167UniSTSGRCh37
Build 36871,648,608 - 71,648,721RGDNCBI36
Celera867,483,679 - 67,483,792RGD
Cytogenetic Map8q13.3UniSTS
HuRef866,978,905 - 66,979,018UniSTS
STS-N52135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37871,485,762 - 71,485,932UniSTSGRCh37
Build 36871,648,316 - 71,648,486RGDNCBI36
Celera867,483,387 - 67,483,557RGD
Cytogenetic Map8q13.3UniSTS
HuRef866,978,613 - 66,978,783UniSTS
GeneMap99-GB4 RH Map8367.13UniSTS
NCBI RH Map8833.0UniSTS
SHGC-58238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37871,506,601 - 71,506,785UniSTSGRCh37
Build 36871,669,155 - 71,669,339RGDNCBI36
Celera867,504,227 - 67,504,411RGD
Cytogenetic Map8q13.3UniSTS
HuRef866,999,453 - 66,999,637UniSTS
RH48759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37871,486,792 - 71,486,947UniSTSGRCh37
Build 36871,649,346 - 71,649,501RGDNCBI36
Celera867,484,417 - 67,484,572RGD
Cytogenetic Map8q13.3UniSTS
HuRef866,979,643 - 66,979,798UniSTS
GeneMap99-GB4 RH Map8374.29UniSTS
SHGC-2593  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q13.3UniSTS
GeneMap99-G3 RH Map82973.0UniSTS


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 2 2 2 5 2 1 1 16 3
Medium 2431 2746 1713 615 1810 455 4091 1829 3287 409 1436 1606 171 1204 2523 6 2
Low 6 245 11 7 136 8 266 367 447 9 8 4 4 1 265
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA740941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI465346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ233660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB448315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000262213   ⟹   ENSP00000262213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,573,218 - 70,608,416 (-)Ensembl
RefSeq Acc Id: ENST00000518678   ⟹   ENSP00000428025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,597,891 - 70,608,387 (-)Ensembl
RefSeq Acc Id: ENST00000520700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,594,501 - 70,608,352 (-)Ensembl
RefSeq Acc Id: ENST00000521049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,583,706 - 70,608,339 (-)Ensembl
RefSeq Acc Id: ENST00000521425   ⟹   ENSP00000428052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,573,442 - 70,607,778 (-)Ensembl
RefSeq Acc Id: NM_001317804   ⟹   NP_001304733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,573,218 - 70,608,416 (-)NCBI
CHM1_1871,541,019 - 71,576,230 (-)NCBI
T2T-CHM13v2.0871,003,150 - 71,038,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317805   ⟹   NP_001304734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,573,218 - 70,607,669 (-)NCBI
CHM1_1871,541,019 - 71,575,466 (-)NCBI
T2T-CHM13v2.0871,003,150 - 71,037,580 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014294   ⟹   NP_055109
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,573,218 - 70,608,416 (-)NCBI
GRCh37871,485,453 - 71,520,694 (-)RGD
Build 36871,648,227 - 71,683,158 (-)NCBI Archive
Celera867,483,078 - 67,518,322 (-)RGD
HuRef866,978,304 - 67,013,532 (-)RGD
CHM1_1871,541,019 - 71,576,230 (-)NCBI
T2T-CHM13v2.0871,003,150 - 71,038,323 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421636   ⟹   XP_047277592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,573,218 - 70,607,669 (-)NCBI
RefSeq Acc Id: NP_055109   ⟸   NM_014294
- Peptide Label: isoform 1
- UniProtKB: B4E0K2 (UniProtKB/Swiss-Prot),   Q15629 (UniProtKB/Swiss-Prot),   Q6FHL3 (UniProtKB/TrEMBL),   Q6FHU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304733   ⟸   NM_001317804
- Peptide Label: isoform 2
- UniProtKB: Q6FHU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304734   ⟸   NM_001317805
- Peptide Label: isoform 3
- UniProtKB: G3XAN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428025   ⟸   ENST00000518678
RefSeq Acc Id: ENSP00000428052   ⟸   ENST00000521425
RefSeq Acc Id: ENSP00000262213   ⟸   ENST00000262213
RefSeq Acc Id: XP_047277592   ⟸   XM_047421636
- Peptide Label: isoform X1
- UniProtKB: G3XAN4 (UniProtKB/TrEMBL)
Protein Domains
TLC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15629-F1-model_v2 AlphaFold Q15629 1-374 view protein structure

Promoters
RGD ID:7213491
Promoter ID:EPDNEW_H12492
Type:initiation region
Name:TRAM1_1
Description:translocation associated membrane protein 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
GRCh38870,608,319 - 70,608,379EPDNEW
RGD ID:6807079
Promoter ID:HG_KWN:61487
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:NM_014294
Position:
Human AssemblyChrPosition (strand)Source
Build 36871,682,934 - 71,683,434 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20568 AgrOrtholog
COSMIC TRAM1 COSMIC
Ensembl Genes ENSG00000067167 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262213 ENTREZGENE
  ENST00000262213.7 UniProtKB/Swiss-Prot
  ENST00000518678.1 UniProtKB/TrEMBL
  ENST00000521425 ENTREZGENE
  ENST00000521425.5 UniProtKB/TrEMBL
GTEx ENSG00000067167 GTEx
HGNC ID HGNC:20568 ENTREZGENE
Human Proteome Map TRAM1 Human Proteome Map
InterPro TLC-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Translocation_assoc_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23471 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23471 ENTREZGENE
OMIM 605190 OMIM
PANTHER PTHR12371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSLOCATING CHAIN-ASSOCIATED MEMBRANE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TRAM_LAG1_CLN8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134955644 PharmGKB
PIRSF Translocation_assoc_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E0K2 ENTREZGENE
  E5RFP8_HUMAN UniProtKB/TrEMBL
  G3XAN4 ENTREZGENE, UniProtKB/TrEMBL
  Q15629 ENTREZGENE
  Q6FHL3 ENTREZGENE, UniProtKB/TrEMBL
  Q6FHU7 ENTREZGENE, UniProtKB/TrEMBL
  TRAM1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E0K2 UniProtKB/Swiss-Prot