TMEM129 (transmembrane protein 129, E3 ubiquitin ligase) - Rat Genome Database

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Gene: TMEM129 (transmembrane protein 129, E3 ubiquitin ligase) Homo sapiens
Analyze
Symbol: TMEM129
Name: transmembrane protein 129, E3 ubiquitin ligase
RGD ID: 1606992
HGNC Page HGNC:25137
Description: Enables ubiquitin protein ligase activity. Involved in protein polyubiquitination; retrograde protein transport, ER to cytosol; and ubiquitin-dependent protein catabolic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: D4S2561E; E3 ubiquitin-protein ligase TM129; FLJ25600; RING-type E3 ubiquitin transferase TM129; transmembrane protein 129; transmembrane protein 129, E3 ubiquitin protein ligase
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
GRCh3841,715,952 - 1,721,323 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,715,952 - 1,721,358 (-)EnsemblGRCh38hg38GRCh38
GRCh3741,717,679 - 1,723,050 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,687,477 - 1,692,882 (-)NCBINCBI36Build 36hg18NCBI36
Celera41,628,728 - 1,634,133 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,660,571 - 1,665,977 (-)NCBIHuRef
CHM1_141,715,638 - 1,721,039 (-)NCBICHM1_1
T2T-CHM13v2.041,713,779 - 1,719,151 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
cherubism  (IAGP)
genetic disease  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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:12477932   PMID:20348956   PMID:20379614   PMID:20972438   PMID:21873635   PMID:24163127   PMID:24412244   PMID:24807418   PMID:25030448   PMID:26210183   PMID:26760575   PMID:27854284  
PMID:29180619   PMID:31289263   PMID:32614325   PMID:33961781   PMID:35748872   PMID:35941660  


Genomics

Comparative Map Data
TMEM129
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,715,952 - 1,721,323 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,715,952 - 1,721,358 (-)EnsemblGRCh38hg38GRCh38
GRCh3741,717,679 - 1,723,050 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,687,477 - 1,692,882 (-)NCBINCBI36Build 36hg18NCBI36
Celera41,628,728 - 1,634,133 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,660,571 - 1,665,977 (-)NCBIHuRef
CHM1_141,715,638 - 1,721,039 (-)NCBICHM1_1
T2T-CHM13v2.041,713,779 - 1,719,151 (-)NCBIT2T-CHM13v2.0
Tmem129
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39533,810,560 - 33,815,321 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl533,810,560 - 33,815,760 (-)EnsemblGRCm39 Ensembl
GRCm38533,653,216 - 33,657,977 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl533,653,216 - 33,658,416 (-)EnsemblGRCm38mm10GRCm38
MGSCv37533,995,865 - 34,000,481 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36533,970,073 - 33,974,689 (-)NCBIMGSCv36mm8
Celera531,129,332 - 31,133,948 (-)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.83NCBI
Tmem129
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81481,289,852 - 81,295,416 (+)NCBIGRCr8
mRatBN7.21477,065,391 - 77,070,871 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1477,065,841 - 77,070,865 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1481,518,138 - 81,523,175 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01482,758,738 - 82,763,775 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01479,204,038 - 79,209,075 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01482,350,734 - 82,356,084 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1482,350,734 - 82,356,078 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01483,039,741 - 83,045,469 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41482,761,553 - 82,766,583 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1475,989,391 - 75,994,419 (+)NCBICelera
Cytogenetic Map14q21NCBI
Tmem129
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955514968,763 - 972,918 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955514968,763 - 972,918 (-)NCBIChiLan1.0ChiLan1.0
TMEM129
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v232,044,648 - 2,049,840 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan141,979,836 - 1,984,747 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v041,853,126 - 1,858,461 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.141,767,517 - 1,772,643 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl41,767,517 - 1,772,643 (-)Ensemblpanpan1.1panPan2
TMEM129
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1362,381,240 - 62,386,381 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl362,381,411 - 62,385,349 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha364,898,957 - 64,904,102 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0362,856,654 - 62,861,787 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl362,856,660 - 62,861,787 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1362,350,156 - 62,355,301 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0362,553,675 - 62,558,821 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0362,912,915 - 62,918,061 (+)NCBIUU_Cfam_GSD_1.0
Tmem129
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,964,220 - 67,968,975 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647721,665,275 - 21,670,668 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647721,665,955 - 21,670,667 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM129
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8819,764 - 826,192 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18819,762 - 826,233 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28306,726 - 312,619 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM129
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12747,045,579 - 47,050,641 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2747,045,427 - 47,051,327 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660513,422,266 - 3,427,234 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem129
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475525,694,026 - 25,699,489 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475525,694,391 - 25,699,294 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM129
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3 copy number gain See cases [RCV000051564] Chr4:1196923..2487080 [GRCh38]
Chr4:1190711..2488807 [GRCh37]
Chr4:1180711..2458605 [NCBI36]
Chr4:4p16.3		 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 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 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 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 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(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 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 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 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
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 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
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
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 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 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 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
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(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 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 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 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 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3		 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
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1 copy number loss See cases [RCV000143548] Chr4:1699291..1973304 [GRCh38]
Chr4:1701018..1975031 [GRCh37]
Chr4:1670816..1944829 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3 copy number gain See cases [RCV000143647] Chr4:1423130..2053191 [GRCh38]
Chr4:1416918..2054918 [GRCh37]
Chr4:1406918..2024716 [NCBI36]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1 copy number loss See cases [RCV000239816] Chr4:1190911..2255904 [GRCh37]
Chr4:4p16.3		 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
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 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 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 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 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 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(chr4:1229130-1852978)x3 copy number gain See cases [RCV000449380] Chr4:1229130..1852978 [GRCh37]
Chr4:4p16.3		 uncertain significance
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(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 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 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 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 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 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 4p16.3(chr4:910410-1798461)x3 copy number gain See cases [RCV000510819] Chr4:910410..1798461 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.346C>T (p.Arg116Cys) single nucleotide variant Inborn genetic diseases [RCV003258368] Chr4:1718486 [GRCh38]
Chr4:1720213 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.683T>G (p.Leu228Arg) single nucleotide variant Inborn genetic diseases [RCV003295295] Chr4:1717673 [GRCh38]
Chr4:1719400 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.281G>A (p.Arg94Gln) single nucleotide variant Inborn genetic diseases [RCV003254277] Chr4:1718551 [GRCh38]
Chr4:1720278 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001127266.2(TMEM129):c.167C>A (p.Thr56Lys) single nucleotide variant Inborn genetic diseases [RCV003269019] Chr4:1720671 [GRCh38]
Chr4:1722398 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.347G>A (p.Arg116His) single nucleotide variant Inborn genetic diseases [RCV003243483] Chr4:1718485 [GRCh38]
Chr4:1720212 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.692C>G (p.Thr231Ser) single nucleotide variant Inborn genetic diseases [RCV003266757] Chr4:1717664 [GRCh38]
Chr4:1719391 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
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-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(chr4:1500754-2344692)x3 copy number gain not provided [RCV000743203] Chr4:1500754..2344692 [GRCh37]
Chr4:4p16.3		 uncertain significance
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(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3		 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
GRCh37/hg19 4p16.3(chr4:1305802-2460571) copy number loss 4p partial monosomy syndrome [RCV000767708] Chr4:1305802..2460571 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1537622-1752555)x3 copy number gain not provided [RCV000849678] Chr4:1537622..1752555 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1684415-1764940)x3 copy number gain not provided [RCV000846376] Chr4:1684415..1764940 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1588664-1741150)x3 copy number gain not provided [RCV000848255] Chr4:1588664..1741150 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1666159-1738239)x1 copy number loss not provided [RCV000847980] Chr4:1666159..1738239 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:1263544-1756564)x3 copy number gain not provided [RCV000846448] Chr4:1263544..1756564 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.788C>T (p.Thr263Ile) single nucleotide variant Inborn genetic diseases [RCV003240557] Chr4:1717568 [GRCh38]
Chr4:1719295 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.797C>T (p.Ser266Phe) single nucleotide variant Inborn genetic diseases [RCV003249793] Chr4:1717559 [GRCh38]
Chr4:1719286 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3 copy number gain not provided [RCV002473490] Chr4:1180181..2009278 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
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
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 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
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
GRCh37/hg19 4p16.3(chr4:1377513-1725206)x3 copy number gain not provided [RCV001258640] Chr4:1377513..1725206 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3 copy number gain See cases [RCV001263050] Chr4:1420948..1836794 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3		 pathogenic
Single allele complex Heart, malformation of [RCV002280661] Chr4:68345..1870548 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
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
NC_000004.11:g.(?_1619775)_(2181192_?)del deletion not provided [RCV001388563] Chr4:1619775..2181192 [GRCh37]
Chr4:4p16.3		 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
GRCh37/hg19 4p16.3(chr4:1537623-1740152)x3 copy number gain not provided [RCV001833077] Chr4:1537623..1740152 [GRCh37]
Chr4:4p16.3		 likely benign
NC_000004.11:g.(?_493125)_(2065854_?)del deletion not provided [RCV001975185] Chr4:493125..2065854 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(1843544_?)del deletion not provided [RCV003119410] Chr4:493125..1843544 [GRCh37]
Chr4:4p16.3		 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
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 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 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001127266.2(TMEM129):c.851C>T (p.Ala284Val) single nucleotide variant Inborn genetic diseases [RCV002732716] Chr4:1717418 [GRCh38]
Chr4:1719145 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.661G>C (p.Val221Leu) single nucleotide variant Inborn genetic diseases [RCV002836835] Chr4:1718171 [GRCh38]
Chr4:1719898 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.532C>G (p.Arg178Gly) single nucleotide variant Inborn genetic diseases [RCV002883491] Chr4:1718300 [GRCh38]
Chr4:1720027 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.374C>T (p.Ala125Val) single nucleotide variant Inborn genetic diseases [RCV002998208] Chr4:1718458 [GRCh38]
Chr4:1720185 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.875G>A (p.Arg292His) single nucleotide variant Inborn genetic diseases [RCV002997969] Chr4:1717394 [GRCh38]
Chr4:1719121 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.448C>T (p.Arg150Trp) single nucleotide variant Inborn genetic diseases [RCV002707267] Chr4:1718384 [GRCh38]
Chr4:1720111 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.1051G>A (p.Ala351Thr) single nucleotide variant Inborn genetic diseases [RCV002799567] Chr4:1717218 [GRCh38]
Chr4:1718945 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.605A>T (p.Asp202Val) single nucleotide variant Inborn genetic diseases [RCV002830964] Chr4:1718227 [GRCh38]
Chr4:1719954 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.422T>C (p.Val141Ala) single nucleotide variant Inborn genetic diseases [RCV002743621] Chr4:1718410 [GRCh38]
Chr4:1720137 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.1079C>T (p.Thr360Ile) single nucleotide variant Inborn genetic diseases [RCV002697182] Chr4:1717190 [GRCh38]
Chr4:1718917 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.815C>T (p.Pro272Leu) single nucleotide variant Inborn genetic diseases [RCV002787837] Chr4:1717541 [GRCh38]
Chr4:1719268 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.31G>A (p.Ala11Thr) single nucleotide variant Inborn genetic diseases [RCV002802417] Chr4:1720807 [GRCh38]
Chr4:1722534 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.221T>C (p.Met74Thr) single nucleotide variant Inborn genetic diseases [RCV002873187] Chr4:1718611 [GRCh38]
Chr4:1720338 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.529T>C (p.Tyr177His) single nucleotide variant Inborn genetic diseases [RCV002745018] Chr4:1718303 [GRCh38]
Chr4:1720030 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.67C>T (p.Pro23Ser) single nucleotide variant Inborn genetic diseases [RCV002920917] Chr4:1720771 [GRCh38]
Chr4:1722498 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.245G>A (p.Arg82Gln) single nucleotide variant Inborn genetic diseases [RCV002724551] Chr4:1718587 [GRCh38]
Chr4:1720314 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001127266.2(TMEM129):c.541G>A (p.Val181Met) single nucleotide variant Inborn genetic diseases [RCV003196881] Chr4:1718291 [GRCh38]
Chr4:1720018 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.533G>A (p.Arg178Gln) single nucleotide variant Inborn genetic diseases [RCV003208814] Chr4:1718299 [GRCh38]
Chr4:1720026 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.490G>A (p.Val164Met) single nucleotide variant Inborn genetic diseases [RCV003195878] Chr4:1718342 [GRCh38]
Chr4:1720069 [GRCh37]
Chr4:4p16.3		 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-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 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
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
NM_001127266.2(TMEM129):c.583C>T (p.Arg195Trp) single nucleotide variant Inborn genetic diseases [RCV003360289] Chr4:1718249 [GRCh38]
Chr4:1719976 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.230C>T (p.Ala77Val) single nucleotide variant Inborn genetic diseases [RCV003383305] Chr4:1718602 [GRCh38]
Chr4:1720329 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.142T>A (p.Phe48Ile) single nucleotide variant Inborn genetic diseases [RCV003349862] Chr4:1720696 [GRCh38]
Chr4:1722423 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.1015T>C (p.Trp339Arg) single nucleotide variant Inborn genetic diseases [RCV003365028] Chr4:1717254 [GRCh38]
Chr4:1718981 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.638G>A (p.Arg213His) single nucleotide variant Inborn genetic diseases [RCV003364167] Chr4:1718194 [GRCh38]
Chr4:1719921 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.1001T>C (p.Leu334Pro) single nucleotide variant Inborn genetic diseases [RCV003374910] Chr4:1717268 [GRCh38]
Chr4:1718995 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001127266.2(TMEM129):c.1017G>T (p.Trp339Cys) single nucleotide variant Inborn genetic diseases [RCV003354280] Chr4:1717252 [GRCh38]
Chr4:1718979 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 copy number loss not provided [RCV003485406] Chr4:68346..2681414 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4 copy number gain not provided [RCV003485344] Chr4:1497034..2571696 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
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
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3 copy number gain not specified [RCV003986525] Chr4:769757..2009467 [GRCh37]
Chr4:4p16.3		 likely pathogenic
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
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3543
Count of miRNA genes:796
Interacting mature miRNAs:927
Transcripts:ENST00000303277, ENST00000382936, ENST00000460722, ENST00000476253, ENST00000480360, ENST00000536901
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
G29340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,717,695 - 1,717,820UniSTSGRCh37
Build 3641,687,493 - 1,687,618RGDNCBI36
Celera41,628,744 - 1,628,869RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,660,587 - 1,660,712UniSTS
D4S2561E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,717,707 - 1,717,864UniSTSGRCh37
Build 3641,687,505 - 1,687,662RGDNCBI36
Celera41,628,756 - 1,628,913RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,660,599 - 1,660,756UniSTS
GeneMap99-GB4 RH Map424.01UniSTS
NCBI RH Map455.5UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2580 1708 609 1595 451 4351 2118 3662 413 1439 1607 170 1203 2786 3
Low 9 410 18 15 354 14 5 79 72 6 20 6 5 1 1 2 2 2
Below cutoff 1 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000303277   ⟹   ENSP00000305243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,715,952 - 1,721,358 (-)Ensembl
RefSeq Acc Id: ENST00000382936   ⟹   ENSP00000372394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,715,952 - 1,721,323 (-)Ensembl
RefSeq Acc Id: ENST00000460722   ⟹   ENSP00000417412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,716,601 - 1,718,235 (-)Ensembl
RefSeq Acc Id: ENST00000476253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,716,865 - 1,717,909 (-)Ensembl
RefSeq Acc Id: ENST00000480360   ⟹   ENSP00000417259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,718,385 - 1,720,781 (-)Ensembl
RefSeq Acc Id: ENST00000536901   ⟹   ENSP00000441812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,716,507 - 1,721,331 (-)Ensembl
RefSeq Acc Id: NM_001127266   ⟹   NP_001120738
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,715,952 - 1,721,323 (-)NCBI
GRCh3741,717,679 - 1,723,084 (-)RGD
Celera41,628,728 - 1,634,133 (-)RGD
HuRef41,660,571 - 1,665,977 (-)ENTREZGENE
CHM1_141,715,638 - 1,721,039 (-)NCBI
T2T-CHM13v2.041,713,779 - 1,719,151 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138385   ⟹   NP_612394
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,715,952 - 1,721,323 (-)NCBI
GRCh3741,717,679 - 1,723,084 (-)RGD
Build 3641,687,477 - 1,692,882 (-)NCBI Archive
Celera41,628,728 - 1,634,133 (-)RGD
HuRef41,660,571 - 1,665,977 (-)ENTREZGENE
CHM1_141,715,638 - 1,721,039 (-)NCBI
T2T-CHM13v2.041,713,779 - 1,719,151 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_612394   ⟸   NM_138385
- Peptide Label: isoform b
- UniProtKB: A0AVI4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001120738   ⟸   NM_001127266
- Peptide Label: isoform a
- UniProtKB: A6NI98 (UniProtKB/Swiss-Prot),   A6NH49 (UniProtKB/Swiss-Prot),   D3DVP8 (UniProtKB/Swiss-Prot),   A0AVI4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000417259   ⟸   ENST00000480360
RefSeq Acc Id: ENSP00000441812   ⟸   ENST00000536901
RefSeq Acc Id: ENSP00000305243   ⟸   ENST00000303277
RefSeq Acc Id: ENSP00000417412   ⟸   ENST00000460722
RefSeq Acc Id: ENSP00000372394   ⟸   ENST00000382936

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0AVI4-F1-model_v2 AlphaFold A0AVI4 1-362 view protein structure

Promoters
RGD ID:6802671
Promoter ID:HG_KWN:47669
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC010IBY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,689,656 - 1,690,897 (-)MPROMDB
RGD ID:6802668
Promoter ID:HG_KWN:47670
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127266
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,692,796 - 1,693,797 (-)MPROMDB
RGD ID:6866840
Promoter ID:EPDNEW_H6585
Type:initiation region
Name:TMEM129_2
Description:transmembrane protein 129
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6586  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,127 - 1,721,187EPDNEW
RGD ID:6866842
Promoter ID:EPDNEW_H6586
Type:initiation region
Name:TMEM129_1
Description:transmembrane protein 129
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6585  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,721,253 - 1,721,313EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25137 AgrOrtholog
COSMIC TMEM129 COSMIC
Ensembl Genes ENSG00000168936 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303277 ENTREZGENE
  ENST00000303277.6 UniProtKB/Swiss-Prot
  ENST00000382936 ENTREZGENE
  ENST00000382936.8 UniProtKB/Swiss-Prot
  ENST00000460722.1 UniProtKB/TrEMBL
  ENST00000480360.1 UniProtKB/TrEMBL
GTEx ENSG00000168936 GTEx
HGNC ID HGNC:25137 ENTREZGENE
Human Proteome Map TMEM129 Human Proteome Map
InterPro TM129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:92305 UniProtKB/Swiss-Prot
NCBI Gene 92305 ENTREZGENE
OMIM 615975 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE TM129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31322 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tmpp129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485649 PharmGKB
UniProt A0AVI4 ENTREZGENE
  A6NH49 ENTREZGENE
  A6NI98 ENTREZGENE
  D3DVP8 ENTREZGENE
  H7C4G7_HUMAN UniProtKB/TrEMBL
  H7C4I8_HUMAN UniProtKB/TrEMBL
  TM129_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NH49 UniProtKB/Swiss-Prot
  A6NI98 UniProtKB/Swiss-Prot
  D3DVP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-04-20 TMEM129  transmembrane protein 129, E3 ubiquitin ligase  TMEM129  transmembrane protein 129  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 TMEM129  transmembrane protein 129    transmembrane protein 129, E3 ubiquitin protein ligase  Symbol and/or name change 5135510 APPROVED
2014-07-29 TMEM129  transmembrane protein 129, E3 ubiquitin protein ligase    transmembrane protein 129  Symbol and/or name change 5135510 APPROVED