TMEM141 (transmembrane protein 141) - Rat Genome Database

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Gene: TMEM141 (transmembrane protein 141) Homo sapiens
Analyze
Symbol: TMEM141
Name: transmembrane protein 141
RGD ID: 1602669
HGNC Page HGNC:28211
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC14141; RP11-216L13.7
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
GRCh389136,791,344 - 136,793,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9136,791,344 - 136,793,317 (+)EnsemblGRCh38hg38GRCh38
GRCh379139,685,796 - 139,687,769 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,805,598 - 138,807,590 (+)NCBINCBI36Build 36hg18NCBI36
Celera9110,199,411 - 110,201,403 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,144,662 - 109,146,654 (+)NCBIHuRef
CHM1_19139,834,511 - 139,836,503 (+)NCBICHM1_1
T2T-CHM13v2.09149,024,225 - 149,026,198 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:15164053   PMID:15489334   PMID:16712791   PMID:17207965   PMID:20305087   PMID:22658674   PMID:29117863   PMID:32296183   PMID:32814053   PMID:33961781  


Genomics

Comparative Map Data
TMEM141
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389136,791,344 - 136,793,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9136,791,344 - 136,793,317 (+)EnsemblGRCh38hg38GRCh38
GRCh379139,685,796 - 139,687,769 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,805,598 - 138,807,590 (+)NCBINCBI36Build 36hg18NCBI36
Celera9110,199,411 - 110,201,403 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,144,662 - 109,146,654 (+)NCBIHuRef
CHM1_19139,834,511 - 139,836,503 (+)NCBICHM1_1
T2T-CHM13v2.09149,024,225 - 149,026,198 (+)NCBIT2T-CHM13v2.0
Tmem141
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,510,078 - 25,512,059 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl225,510,079 - 25,512,017 (-)EnsemblGRCm39 Ensembl
GRCm38225,620,066 - 25,622,047 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,620,067 - 25,622,005 (-)EnsemblGRCm38mm10GRCm38
MGSCv37225,475,586 - 25,477,525 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36225,442,075 - 25,444,014 (-)NCBIMGSCv36mm8
Celera225,348,386 - 25,350,325 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.57NCBI
Tmem141
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8328,837,665 - 28,839,623 (-)NCBIGRCr8
mRatBN7.238,439,533 - 8,441,491 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl38,439,533 - 8,441,491 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx311,544,685 - 11,546,645 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0320,130,911 - 20,132,871 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0318,320,759 - 18,322,720 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.032,843,635 - 2,845,593 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl32,843,635 - 2,845,593 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.032,825,048 - 2,827,006 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,791,545 - 3,793,503 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera33,264,475 - 3,266,433 (-)NCBICelera
Cytogenetic Map3p13NCBI
Tmem141
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555134,892,674 - 4,894,371 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555134,892,650 - 4,894,371 (+)NCBIChiLan1.0ChiLan1.0
TMEM141
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,608,174 - 2,610,138 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan192,610,509 - 2,612,473 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09107,849,421 - 107,851,438 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19136,819,129 - 136,821,071 (+)NCBIpanpan1.1PanPan1.1panPan2
TMEM141
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,777,694 - 48,779,518 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,777,958 - 48,779,448 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,991,305 - 48,003,376 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0949,655,836 - 49,657,598 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1948,431,979 - 48,433,741 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0948,730,644 - 48,742,703 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0948,777,643 - 48,779,405 (-)NCBIUU_Cfam_GSD_1.0
Tmem141
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,259,628 - 202,272,357 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366691,114,321 - 1,115,474 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366691,102,653 - 1,115,411 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM141
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.21313,877,030 - 313,878,950 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM141
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1121,393,836 - 1,395,816 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl121,393,944 - 1,395,740 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660583,878,027 - 3,880,032 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem141
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247601,038,579 - 1,040,239 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247601,038,579 - 1,040,250 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM141
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139566910-139751899)x3 copy number gain See cases [RCV000449187] Chr9:139566910..139751899 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_032928.4(TMEM141):c.20C>T (p.Ser7Phe) single nucleotide variant Inborn genetic diseases [RCV003244441] Chr9:136791390 [GRCh38]
Chr9:139685842 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_139089171)_(141016451_?)del deletion Rafiq syndrome [RCV003122293]|not provided [RCV003105304] Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|no classifications from unflagged records
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139420166-139787562)x1 copy number loss not provided [RCV001259535] Chr9:139420166..139787562 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV001305481]|Intellectual disability, autosomal dominant 8 [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_139258557)_(140003427_?)del deletion Predisposition to invasive fungal disease due to CARD9 deficiency [RCV001380370] Chr9:139258557..140003427 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139563039-140310033) copy number loss not specified [RCV002052853] Chr9:139563039..140310033 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_138392557)_(141016451_?)del deletion Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.11:g.(?_135139626)_(140034216_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3		 uncertain significance
NM_032928.4(TMEM141):c.286G>A (p.Gly96Arg) single nucleotide variant Inborn genetic diseases [RCV002727415] Chr9:136792331 [GRCh38]
Chr9:139686783 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_032928.4(TMEM141):c.52C>T (p.Pro18Ser) single nucleotide variant Inborn genetic diseases [RCV002684748] Chr9:136791422 [GRCh38]
Chr9:139685874 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_032928.4(TMEM141):c.133G>T (p.Ala45Ser) single nucleotide variant Inborn genetic diseases [RCV002981772] Chr9:136791958 [GRCh38]
Chr9:139686410 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_032928.4(TMEM141):c.55G>C (p.Gly19Arg) single nucleotide variant Inborn genetic diseases [RCV002872987] Chr9:136791711 [GRCh38]
Chr9:139686163 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 copy number loss See cases [RCV002640756] Chr9:134962336..137240181 [GRCh38]
Chr9:9q34.3		 pathogenic
NM_032928.4(TMEM141):c.236C>T (p.Thr79Met) single nucleotide variant Inborn genetic diseases [RCV002641687] Chr9:136792281 [GRCh38]
Chr9:139686733 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_032928.4(TMEM141):c.81G>C (p.Gln27His) single nucleotide variant Inborn genetic diseases [RCV003202655] Chr9:136791737 [GRCh38]
Chr9:139686189 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_032928.4(TMEM141):c.4G>C (p.Val2Leu) single nucleotide variant Inborn genetic diseases [RCV003199412] Chr9:136791374 [GRCh38]
Chr9:139685826 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_032928.4(TMEM141):c.88G>T (p.Ala30Ser) single nucleotide variant Inborn genetic diseases [RCV003365880] Chr9:136791744 [GRCh38]
Chr9:139686196 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 copy number gain not provided [RCV003484786] Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660] Chr9:139685408..141050580 [GRCh37]
Chr9:9q34.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1406
Count of miRNA genes:640
Interacting mature miRNAs:735
Transcripts:ENST00000290079, ENST00000465017, ENST00000479737, ENST00000483187, ENST00000484854, ENST00000489739
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH76770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,687,471 - 139,687,693UniSTSGRCh37
Build 369138,807,292 - 138,807,514RGDNCBI36
Celera9110,201,105 - 110,201,327RGD
Cytogenetic Map9q34.3UniSTS
HuRef9109,146,356 - 109,146,578UniSTS
RH91466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,687,417 - 139,687,539UniSTSGRCh37
Build 369138,807,238 - 138,807,360RGDNCBI36
Celera9110,201,051 - 110,201,173RGD
Cytogenetic Map9q34.3UniSTS
HuRef9109,146,302 - 109,146,424UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS


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 4
Medium 2439 2878 1726 624 1835 465 4354 2175 3727 418 1455 1613 175 1 1203 2786 6 2
Low 113 116 3 22 7 1 1 1 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000290079   ⟹   ENSP00000290079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,791,344 - 136,793,317 (+)Ensembl
RefSeq Acc Id: ENST00000465017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,791,368 - 136,793,256 (+)Ensembl
RefSeq Acc Id: ENST00000479737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,791,379 - 136,792,902 (+)Ensembl
RefSeq Acc Id: ENST00000483187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,791,372 - 136,793,256 (+)Ensembl
RefSeq Acc Id: ENST00000484854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,791,391 - 136,792,346 (+)Ensembl
RefSeq Acc Id: ENST00000489739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9136,791,404 - 136,792,869 (+)Ensembl
RefSeq Acc Id: NM_032928   ⟹   NP_116317
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,791,344 - 136,793,317 (+)NCBI
GRCh379139,685,777 - 139,687,769 (+)RGD
Build 369138,805,598 - 138,807,590 (+)NCBI Archive
Celera9110,199,411 - 110,201,403 (+)RGD
HuRef9109,144,662 - 109,146,654 (+)RGD
CHM1_19139,834,511 - 139,836,503 (+)NCBI
T2T-CHM13v2.09149,024,225 - 149,026,198 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_116317 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH07834 (Get FASTA)   NCBI Sequence Viewer  
  EAW88277 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000290079
  ENSP00000290079.8
GenBank Protein Q96I45 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_116317   ⟸   NM_032928
- UniProtKB: A6NIZ7 (UniProtKB/Swiss-Prot),   Q5T5R5 (UniProtKB/Swiss-Prot),   Q96I45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000290079   ⟸   ENST00000290079

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96I45-F1-model_v2 AlphaFold Q96I45 1-108 view protein structure

Promoters
RGD ID:7216689
Promoter ID:EPDNEW_H14091
Type:initiation region
Name:TMEM141_1
Description:transmembrane protein 141
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,791,344 - 136,791,404EPDNEW
RGD ID:6808308
Promoter ID:HG_KWN:65631
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000290079,   OTTHUMT00000055118,   OTTHUMT00000055120,   OTTHUMT00000055122,   OTTHUMT00000055124,   OTTHUMT00000055126,   OTTHUMT00000055128
Position:
Human AssemblyChrPosition (strand)Source
Build 369138,804,936 - 138,806,087 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28211 AgrOrtholog
COSMIC TMEM141 COSMIC
Ensembl Genes ENSG00000244187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000290079 ENTREZGENE
  ENST00000290079.9 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.3350.20 UniProtKB/Swiss-Prot
GTEx ENSG00000244187 GTEx
HGNC ID HGNC:28211 ENTREZGENE
Human Proteome Map TMEM141 Human Proteome Map
InterPro Tmem141 UniProtKB/Swiss-Prot
  Tmem141_sf UniProtKB/Swiss-Prot
KEGG Report hsa:85014 UniProtKB/Swiss-Prot
NCBI Gene 85014 ENTREZGENE
PANTHER PTHR47229 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEIN 141 UniProtKB/Swiss-Prot
Pfam TMEM141 UniProtKB/Swiss-Prot
PharmGKB PA144596262 PharmGKB
UniProt A6NIZ7 ENTREZGENE
  Q5T5R5 ENTREZGENE
  Q96I45 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NIZ7 UniProtKB/Swiss-Prot
  Q5T5R5 UniProtKB/Swiss-Prot