LYRM4 (LYR motif containing 4) - Rat Genome Database

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Gene: LYRM4 (LYR motif containing 4) Homo sapiens
Analyze
Symbol: LYRM4
Name: LYR motif containing 4
RGD ID: 1345825
HGNC Page HGNC:21365
Description: Enables protein homodimerization activity. Involved in [2Fe-2S] cluster assembly. Located in mitochondrion and nuclear body. Part of mitochondrial [2Fe-2S] assembly complex. Implicated in combined oxidative phosphorylation deficiency 19.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C6orf149; CGI-203; COXPD19; homolog of yeast Isd11; ISD11; LYR motif-containing protein 4; mitochondrial matrix Nfs1 interacting protein; RP11-428J1.4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3865,031,753 - 5,260,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl65,103,629 - 5,260,950 (-)EnsemblGRCh38hg38GRCh38
GRCh3765,068,561 - 5,261,183 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3665,053,652 - 5,206,167 (-)NCBINCBI36Build 36hg18NCBI36
Build 3465,053,652 - 5,206,167NCBI
Celera66,335,563 - 6,487,960 (-)NCBICelera
Cytogenetic Map6p25.1NCBI
HuRef64,983,042 - 5,135,587 (-)NCBIHuRef
CHM1_165,110,792 - 5,263,814 (-)NCBICHM1_1
T2T-CHM13v2.064,900,453 - 5,130,157 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:11342225   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:16341090   PMID:16344560   PMID:17331979   PMID:18029348   PMID:18650437   PMID:19068216  
PMID:19174780   PMID:19422935   PMID:19454487   PMID:19760754   PMID:19913121   PMID:20628086   PMID:20877624   PMID:20886065   PMID:21072187   PMID:21298097   PMID:21873635   PMID:21968932  
PMID:21988832   PMID:21998595   PMID:22277967   PMID:23509962   PMID:23593335   PMID:23814038   PMID:26186194   PMID:26342079   PMID:26344197   PMID:26496610   PMID:27427956   PMID:27499296  
PMID:27519411   PMID:28271877   PMID:28380382   PMID:28514442   PMID:28634302   PMID:29097656   PMID:29568061   PMID:29983374   PMID:30572598   PMID:31056398   PMID:31101807   PMID:31664822  
PMID:31871319   PMID:32457219   PMID:32628020   PMID:32877691   PMID:33660365   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34800366   PMID:34824239   PMID:35256949  
PMID:35819319   PMID:35831314   PMID:37866880  


Genomics

Comparative Map Data
LYRM4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3865,031,753 - 5,260,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl65,103,629 - 5,260,950 (-)EnsemblGRCh38hg38GRCh38
GRCh3765,068,561 - 5,261,183 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3665,053,652 - 5,206,167 (-)NCBINCBI36Build 36hg18NCBI36
Build 3465,053,652 - 5,206,167NCBI
Celera66,335,563 - 6,487,960 (-)NCBICelera
Cytogenetic Map6p25.1NCBI
HuRef64,983,042 - 5,135,587 (-)NCBIHuRef
CHM1_165,110,792 - 5,263,814 (-)NCBICHM1_1
T2T-CHM13v2.064,900,453 - 5,130,157 (-)NCBIT2T-CHM13v2.0
Lyrm4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391336,162,778 - 36,301,543 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1336,162,378 - 36,301,509 (-)EnsemblGRCm39 Ensembl
GRCm381335,978,797 - 36,117,357 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1335,978,395 - 36,117,526 (-)EnsemblGRCm38mm10GRCm38
MGSCv371336,070,666 - 36,209,226 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361335,986,262 - 36,124,795 (-)NCBIMGSCv36mm8
Celera1337,094,464 - 37,232,801 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1314.44NCBI
Lyrm4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81728,951,912 - 29,067,300 (+)NCBIGRCr8
mRatBN7.21728,746,457 - 28,861,849 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1728,746,469 - 28,861,750 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1728,606,677 - 28,722,099 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01730,210,222 - 30,325,648 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01728,582,619 - 28,697,699 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01729,439,042 - 29,552,773 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1729,438,980 - 29,552,790 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01731,335,552 - 31,449,519 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1728,351,102 - 28,464,094 (+)NCBICelera
Cytogenetic Map17p12NCBI
Lyrm4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554658,346,012 - 8,470,251 (+)NCBIChiLan1.0ChiLan1.0
LYRM4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2519,660,550 - 19,890,104 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1615,684,672 - 15,894,094 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v064,887,010 - 5,096,384 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.165,126,916 - 5,279,037 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl65,127,918 - 5,279,038 (-)Ensemblpanpan1.1panPan2
LYRM4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1355,229,851 - 5,373,965 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,235,415 - 5,394,097 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0355,299,018 - 5,458,444 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1355,165,491 - 5,324,206 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0355,190,998 - 5,349,956 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0356,523,175 - 6,682,769 (-)NCBIUU_Cfam_GSD_1.0
Lyrm4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494618,936,119 - 19,081,120 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365347,205,614 - 7,350,525 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365347,205,538 - 7,350,114 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LYRM4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl73,070,470 - 3,192,922 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.173,034,846 - 3,193,123 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.273,095,387 - 3,261,184 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LYRM4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11766,921,386 - 67,077,331 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1766,921,596 - 67,076,843 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660445,050,918 - 5,208,300 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lyrm4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475620,017,066 - 20,152,201 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475620,016,773 - 20,152,201 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LYRM4
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 19 [RCV000088687] Chr6:5216622 [GRCh38]
Chr6:5216855 [GRCh37]
Chr6:6p25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1 copy number loss See cases [RCV000050686] Chr6:163083..6062800 [GRCh38]
Chr6:163083..6063033 [GRCh37]
Chr6:108083..6008032 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3 copy number gain See cases [RCV000051870] Chr6:144957..5239181 [GRCh38]
Chr6:144957..5239414 [GRCh37]
Chr6:89957..5184413 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:162883-5979198)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|See cases [RCV000052160] Chr6:162883..5979198 [GRCh38]
Chr6:162883..5979431 [GRCh37]
Chr6:107883..5924430 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1 copy number loss See cases [RCV000052161] Chr6:163083..5875402 [GRCh38]
Chr6:163083..5875635 [GRCh37]
Chr6:108083..5820634 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 copy number loss See cases [RCV000052163] Chr6:164633..6284237 [GRCh38]
Chr6:164633..6284470 [GRCh37]
Chr6:109633..6229469 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1 copy number loss See cases [RCV000052164] Chr6:164633..5823601 [GRCh38]
Chr6:164633..5823834 [GRCh37]
Chr6:109633..5768833 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
NR_126015.1(LOC100129461):n.238-3852A>T single nucleotide variant Lung cancer [RCV000096938] Chr6:5068747 [GRCh38]
Chr6:5068981 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001164841.2(LYRM4):c.*42-13211A>G single nucleotide variant Lung cancer [RCV000096941] Chr6:5122702 [GRCh38]
Chr6:5122936 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.569T>A (p.Leu190His) single nucleotide variant not specified [RCV004252690] Chr6:5086054 [GRCh38]
Chr6:5086288 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1 copy number loss See cases [RCV000137496] Chr6:152634..5315679 [GRCh38]
Chr6:152634..5315912 [GRCh37]
Chr6:97634..5260911 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 copy number gain See cases [RCV000138716] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 likely pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 copy number loss See cases [RCV000138717] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 copy number loss See cases [RCV000142299] Chr6:156974..7122759 [GRCh38]
Chr6:156974..7122992 [GRCh37]
Chr6:101974..7067991 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 copy number loss See cases [RCV000142916] Chr6:152634..6289804 [GRCh38]
Chr6:152634..6290037 [GRCh37]
Chr6:97634..6235036 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 copy number loss See cases [RCV000240475] Chr6:204009..6447311 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_020408.6(LYRM4):c.-10dup duplication not specified [RCV000601403] Chr6:5260742..5260743 [GRCh38]
Chr6:5260975..5260976 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5210792-5339437)x1 copy number loss See cases [RCV000447670] Chr6:5210792..5339437 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_020408.6(LYRM4):c.207+18T>C single nucleotide variant not provided [RCV002062564]|not specified [RCV000441282] Chr6:5216600 [GRCh38]
Chr6:5216833 [GRCh37]
Chr6:6p25.1		 benign|likely benign
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3		 pathogenic
NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) single nucleotide variant Combined oxidative phosphorylation deficiency 19 [RCV001775791]|not provided [RCV000676850]|not specified [RCV000443713] Chr6:5260703 [GRCh38]
Chr6:5260936 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5081988-5401617)x3 copy number gain See cases [RCV000449005] Chr6:5081988..5401617 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_020408.6(LYRM4):c.87-18del deletion not specified [RCV000484785] Chr6:5216756 [GRCh38]
Chr6:5216989 [GRCh37]
Chr6:6p25.1		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.1(chr6:4338840-5164497)x3 copy number gain See cases [RCV000511977] Chr6:4338840..5164497 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1 copy number loss See cases [RCV000511093] Chr6:156974..6417749 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1 copy number loss See cases [RCV000510749] Chr6:2109893..5962832 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
NM_020408.6(LYRM4):c.33T>G (p.Ser11=) single nucleotide variant LYRM4-related disorder [RCV003945514]|not provided [RCV000907783]|not specified [RCV000612634] Chr6:5260701 [GRCh38]
Chr6:5260934 [GRCh37]
Chr6:6p25.1		 likely benign
NM_001145115.3(PPP1R3G):c.997T>C (p.Cys333Arg) single nucleotide variant not specified [RCV004313378] Chr6:5086482 [GRCh38]
Chr6:5086716 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.-46T>C single nucleotide variant not specified [RCV000606129] Chr6:5260779 [GRCh38]
Chr6:5261012 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.7G>A (p.Ala3Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 19 [RCV000660465] Chr6:5260727 [GRCh38]
Chr6:5260960 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:4920229-5624099)x3 copy number gain not provided [RCV000682637] Chr6:4920229..5624099 [GRCh37]
Chr6:6p25.1		 likely benign
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.1(chr6:5081988-5402772)x3 copy number gain not provided [RCV000682639] Chr6:5081988..5402772 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3		 likely pathogenic
GRCh37/hg19 6p25.1(chr6:5172637-5454482)x1 copy number loss not provided [RCV000682640] Chr6:5172637..5454482 [GRCh37]
Chr6:6p25.1		 uncertain significance
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NC_000006.11:g.5193615_5281296del deletion Combined oxidative phosphorylation defect type 14 [RCV000714946] Chr6:5193613..5281294 [GRCh37]
Chr6:6p25.1		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.1(chr6:5122729-5135886)x1 copy number loss not provided [RCV000745443] Chr6:5122729..5135886 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5135156-5135969)x0 copy number loss not provided [RCV000745444] Chr6:5135156..5135969 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5148918-5208761)x3 copy number gain not provided [RCV000745445] Chr6:5148918..5208761 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5235602-5384079)x1 copy number loss not provided [RCV000745446] Chr6:5235602..5384079 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-34617G>C single nucleotide variant not provided [RCV001669387] Chr6:5144108 [GRCh38]
Chr6:5144342 [GRCh37]
Chr6:6p25.1		 benign
NM_001318872.2(FARS2):c.-350C>T single nucleotide variant not provided [RCV000835698] Chr6:5261030 [GRCh38]
Chr6:5261263 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.-170C>T single nucleotide variant not provided [RCV000835699] Chr6:5260903 [GRCh38]
Chr6:5261136 [GRCh37]
Chr6:6p25.1		 benign
NM_001318872.2(FARS2):c.-153A>C single nucleotide variant not provided [RCV000840435] Chr6:5261227 [GRCh38]
Chr6:5261460 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5013340-5248673)x3 copy number gain not provided [RCV000848677] Chr6:5013340..5248673 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5233209-5474230)x1 copy number loss not provided [RCV000847687] Chr6:5233209..5474230 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5007869-5152550)x3 copy number gain not provided [RCV000849088] Chr6:5007869..5152550 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.78C>T (p.Tyr26=) single nucleotide variant not provided [RCV000998513] Chr6:5260656 [GRCh38]
Chr6:5260889 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.87-39G>A single nucleotide variant not provided [RCV000835548] Chr6:5216777 [GRCh38]
Chr6:5217010 [GRCh37]
Chr6:6p25.1		 benign
NM_001318872.2(FARS2):c.-321G>A single nucleotide variant not provided [RCV000835648] Chr6:5261059 [GRCh38]
Chr6:5261292 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:4812509-5158081)x4 copy number gain not provided [RCV000848444] Chr6:4812509..5158081 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.208-258dup duplication not provided [RCV000840437] Chr6:5109748..5109749 [GRCh38]
Chr6:5109982..5109983 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5203706-5396596)x1 copy number loss not provided [RCV000849813] Chr6:5203706..5396596 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001318872.2(FARS2):c.-254A>G single nucleotide variant not provided [RCV000840427] Chr6:5261126 [GRCh38]
Chr6:5261359 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-34467G>A single nucleotide variant not provided [RCV000840428] Chr6:5143958 [GRCh38]
Chr6:5144192 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-34464A>G single nucleotide variant not provided [RCV000840429] Chr6:5143955 [GRCh38]
Chr6:5144189 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-273G>T single nucleotide variant not provided [RCV000840430] Chr6:5109764 [GRCh38]
Chr6:5109998 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-34942G>A single nucleotide variant not provided [RCV000840431] Chr6:5144433 [GRCh38]
Chr6:5144667 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-256G>A single nucleotide variant not provided [RCV000840432] Chr6:5109747 [GRCh38]
Chr6:5109981 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-220G>A single nucleotide variant not provided [RCV000840433] Chr6:5109711 [GRCh38]
Chr6:5109945 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5081989-5402057)x3 copy number gain not provided [RCV000846692] Chr6:5081989..5402057 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5043275-5895707)x3 copy number gain not provided [RCV000847037] Chr6:5043275..5895707 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5254548-5360749)x1 copy number loss not provided [RCV000848689] Chr6:5254548..5360749 [GRCh37]
Chr6:6p25.1		 pathogenic
GRCh37/hg19 6p25.1(chr6:4958487-5127735)x4 copy number gain not provided [RCV000849691] Chr6:4958487..5127735 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_020408.6(LYRM4):c.169A>C (p.Asn57His) single nucleotide variant not specified [RCV004295623] Chr6:5216656 [GRCh38]
Chr6:5216889 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.203G>C (p.Arg68Pro) single nucleotide variant not specified [RCV004313489] Chr6:5216622 [GRCh38]
Chr6:5216855 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.86+130G>C single nucleotide variant not provided [RCV001714485] Chr6:5260518 [GRCh38]
Chr6:5260751 [GRCh37]
Chr6:6p25.1		 benign
NM_001145115.3(PPP1R3G):c.752G>C (p.Arg251Pro) single nucleotide variant not specified [RCV004290253] Chr6:5086237 [GRCh38]
Chr6:5086471 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.*65A>C single nucleotide variant not provided [RCV001718562] Chr6:5109358 [GRCh38]
Chr6:5109592 [GRCh37]
Chr6:6p25.1		 benign
NM_001145115.3(PPP1R3G):c.834G>C (p.Glu278Asp) single nucleotide variant not specified [RCV004205703] Chr6:5086319 [GRCh38]
Chr6:5086553 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.87-111G>A single nucleotide variant not provided [RCV001689369] Chr6:5216849 [GRCh38]
Chr6:5217082 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.86+69G>C single nucleotide variant not provided [RCV001717008] Chr6:5260579 [GRCh38]
Chr6:5260812 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.87-97A>G single nucleotide variant not provided [RCV001718111] Chr6:5216835 [GRCh38]
Chr6:5217068 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1(chr6:5043132-5896220)x3 copy number gain not provided [RCV001007550] Chr6:5043132..5896220 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.86+65T>C single nucleotide variant not provided [RCV001674207] Chr6:5260583 [GRCh38]
Chr6:5260816 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-35015C>T single nucleotide variant not provided [RCV001669042] Chr6:5144506 [GRCh38]
Chr6:5144740 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.207+29952C>A single nucleotide variant not provided [RCV001689535] Chr6:5186666 [GRCh38]
Chr6:5186900 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.-11_-10dup duplication Combined oxidative phosphorylation defect type 14 [RCV002503168]|not provided [RCV001714252] Chr6:5260742..5260743 [GRCh38]
Chr6:5260975..5260976 [GRCh37]
Chr6:6p25.1		 benign|likely benign
GRCh37/hg19 6p25.1(chr6:5176631-5854127)x1 copy number loss not provided [RCV001005764] Chr6:5176631..5854127 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5210792-5639420)x1 copy number loss not provided [RCV001005765] Chr6:5210792..5639420 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5105467-5623386)x3 copy number gain not provided [RCV001258897] Chr6:5105467..5623386 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:4815620-5304909)x3 copy number gain not provided [RCV001258900] Chr6:4815620..5304909 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.86+187G>A single nucleotide variant not provided [RCV001538784] Chr6:5260461 [GRCh38]
Chr6:5260461..5260462 [GRCh38]
Chr6:5260694 [GRCh37]
Chr6:5260694..5260695 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.207+29634del deletion not provided [RCV001527850] Chr6:5186984 [GRCh38]
Chr6:5187218 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu) single nucleotide variant Combined oxidative phosphorylation deficiency 19 [RCV001329139] Chr6:5216653 [GRCh38]
Chr6:5216886 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.207+201G>A single nucleotide variant not provided [RCV001680148] Chr6:5216417 [GRCh38]
Chr6:5216650 [GRCh37]
Chr6:6p25.1		 benign
NM_001318872.2(FARS2):c.-305T>G single nucleotide variant not provided [RCV001617525] Chr6:5261075 [GRCh38]
Chr6:5261308 [GRCh37]
Chr6:6p25.1		 benign
NM_001318872.2(FARS2):c.-139_-116del deletion not provided [RCV001715869] Chr6:5261234..5261257 [GRCh38]
Chr6:5261467..5261490 [GRCh37]
Chr6:6p25.1		 benign
NM_020408.6(LYRM4):c.208-34463T>C single nucleotide variant not provided [RCV001769565] Chr6:5143954 [GRCh38]
Chr6:5144188 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.207+30081G>C single nucleotide variant not provided [RCV001769878] Chr6:5186537 [GRCh38]
Chr6:5186771 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.*7G>A single nucleotide variant not provided [RCV001769743] Chr6:5109416 [GRCh38]
Chr6:5109650 [GRCh37]
Chr6:6p25.1		 likely benign
NM_001318872.2(FARS2):c.-225C>T single nucleotide variant not provided [RCV001752980] Chr6:5261155 [GRCh38]
Chr6:5261388 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.207+29913G>A single nucleotide variant not provided [RCV001767917] Chr6:5186705 [GRCh38]
Chr6:5186939 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.86+248G>A single nucleotide variant not provided [RCV001769900] Chr6:5260400 [GRCh38]
Chr6:5260633 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.207+29892C>T single nucleotide variant not provided [RCV001768199] Chr6:5186726 [GRCh38]
Chr6:5186960 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.207+274dup duplication not provided [RCV001757616] Chr6:5216343..5216344 [GRCh38]
Chr6:5216576..5216577 [GRCh37]
Chr6:6p25.1		 likely benign
GRCh37/hg19 6p25.1(chr6:5210792-5339437) copy number loss not specified [RCV002053550] Chr6:5210792..5339437 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5248338-5395099) copy number loss not specified [RCV002053551] Chr6:5248338..5395099 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5125950-5431584)x1 copy number loss not provided [RCV001827662] Chr6:5125950..5431584 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5081988-5401617) copy number gain not specified [RCV002053549] Chr6:5081988..5401617 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5109657)_(5369435_?)dup duplication Combined oxidative phosphorylation defect type 14 [RCV001958251] Chr6:5109657..5369435 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5109657)_(5771662_?)dup duplication Combined oxidative phosphorylation defect type 14 [RCV001962714] Chr6:5109657..5771662 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5109657)_(5404954_?)dup duplication Combined oxidative phosphorylation defect type 14 [RCV001978893] Chr6:5109657..5404954 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.36_37del (p.Tyr13fs) deletion not provided [RCV002036146] Chr6:5260697..5260698 [GRCh38]
Chr6:5260930..5260931 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5260861)_(5369435_?)del deletion Combined oxidative phosphorylation defect type 14 [RCV002014822] Chr6:5260861..5369435 [GRCh37]
Chr6:6p25.1		 pathogenic
NM_020408.6(LYRM4):c.19G>A (p.Ala7Thr) single nucleotide variant not provided [RCV001938250] Chr6:5260715 [GRCh38]
Chr6:5260948 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV002012895] Chr6:5260726 [GRCh38]
Chr6:5260959 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.109A>C (p.Arg37=) single nucleotide variant not provided [RCV002140878] Chr6:5216716 [GRCh38]
Chr6:5216949 [GRCh37]
Chr6:6p25.1		 likely benign
NC_000006.11:g.(?_5109657)_(6320826_?)del deletion Combined oxidative phosphorylation defect type 14 [RCV003109536] Chr6:5109657..6320826 [GRCh37]
Chr6:6p25.1		 pathogenic
NC_000006.11:g.(?_5216831)_(5431425_?)del deletion Combined oxidative phosphorylation defect type 14 [RCV003109538] Chr6:5216831..5431425 [GRCh37]
Chr6:6p25.1		 pathogenic
NM_001145115.3(PPP1R3G):c.86C>G (p.Ala29Gly) single nucleotide variant not specified [RCV004310420] Chr6:5085571 [GRCh38]
Chr6:5085805 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5137260-5409721)x1 copy number loss See cases [RCV002287556] Chr6:5137260..5409721 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.919C>T (p.Pro307Ser) single nucleotide variant not specified [RCV004181000] Chr6:5086404 [GRCh38]
Chr6:5086638 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.935C>T (p.Pro312Leu) single nucleotide variant not specified [RCV004154047] Chr6:5086420 [GRCh38]
Chr6:5086654 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.566C>G (p.Pro189Arg) single nucleotide variant not specified [RCV004089046] Chr6:5086051 [GRCh38]
Chr6:5086285 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.787G>C (p.Val263Leu) single nucleotide variant not specified [RCV004174969] Chr6:5086272 [GRCh38]
Chr6:5086506 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.248G>A (p.Arg83His) single nucleotide variant not specified [RCV004097440] Chr6:5085733 [GRCh38]
Chr6:5085967 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.199C>T (p.Pro67Ser) single nucleotide variant not specified [RCV004096263] Chr6:5085684 [GRCh38]
Chr6:5085918 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5132544-5407464)x1 copy number loss not provided [RCV002475673] Chr6:5132544..5407464 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.433G>C (p.Val145Leu) single nucleotide variant not specified [RCV004240588] Chr6:5085918 [GRCh38]
Chr6:5086152 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.118G>A (p.Asp40Asn) single nucleotide variant not specified [RCV004183511] Chr6:5085603 [GRCh38]
Chr6:5085837 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.229T>G (p.Ser77Ala) single nucleotide variant not provided [RCV003080348] Chr6:5109470 [GRCh38]
Chr6:5109704 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.376G>A (p.Ala126Thr) single nucleotide variant not specified [RCV004232791] Chr6:5085861 [GRCh38]
Chr6:5086095 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.992A>G (p.Tyr331Cys) single nucleotide variant not specified [RCV004174907] Chr6:5086477 [GRCh38]
Chr6:5086711 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.556G>A (p.Val186Met) single nucleotide variant not specified [RCV004158049] Chr6:5086041 [GRCh38]
Chr6:5086275 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001145115.3(PPP1R3G):c.329G>A (p.Gly110Asp) single nucleotide variant not specified [RCV004131838] Chr6:5085814 [GRCh38]
Chr6:5086048 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.34C>G (p.Leu12Val) single nucleotide variant not specified [RCV004234573] Chr6:5260700 [GRCh38]
Chr6:5260933 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.40C>T (p.Arg14Trp) single nucleotide variant not specified [RCV004234574] Chr6:5260694 [GRCh38]
Chr6:5260927 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.533G>C (p.Gly178Ala) single nucleotide variant not specified [RCV004082809] Chr6:5086018 [GRCh38]
Chr6:5086252 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.208-34698G>C single nucleotide variant not specified [RCV004175762] Chr6:5144189 [GRCh38]
Chr6:5144423 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.440A>T (p.His147Leu) single nucleotide variant not specified [RCV004178770] Chr6:5085925 [GRCh38]
Chr6:5086159 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.207+29717A>G single nucleotide variant not specified [RCV004079948] Chr6:5186901 [GRCh38]
Chr6:5187135 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.89C>G (p.Pro30Arg) single nucleotide variant not specified [RCV004238643] Chr6:5085574 [GRCh38]
Chr6:5085808 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.75C>T (p.Ala25=) single nucleotide variant not provided [RCV003063573] Chr6:5260659 [GRCh38]
Chr6:5260892 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.187C>T (p.Leu63Phe) single nucleotide variant not provided [RCV002600691] Chr6:5216638 [GRCh38]
Chr6:5216871 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.901C>A (p.His301Asn) single nucleotide variant not specified [RCV004173622] Chr6:5086386 [GRCh38]
Chr6:5086620 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.124G>A (p.Glu42Lys) single nucleotide variant not provided [RCV003008414] Chr6:5216701 [GRCh38]
Chr6:5216934 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.160C>G (p.Leu54Val) single nucleotide variant not specified [RCV004180865] Chr6:5085645 [GRCh38]
Chr6:5085879 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.611C>G (p.Pro204Arg) single nucleotide variant not specified [RCV004073976] Chr6:5086096 [GRCh38]
Chr6:5086330 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.1054G>A (p.Ala352Thr) single nucleotide variant not specified [RCV004077764] Chr6:5086539 [GRCh38]
Chr6:5086773 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.207+29680G>T single nucleotide variant not specified [RCV004264953] Chr6:5186938 [GRCh38]
Chr6:5187172 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.207+29798G>T single nucleotide variant not specified [RCV004280557] Chr6:5186820 [GRCh38]
Chr6:5187054 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.362C>A (p.Pro121Gln) single nucleotide variant not provided [RCV004696360]|not specified [RCV004255702] Chr6:5085847 [GRCh38]
Chr6:5086081 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.17C>A (p.Ala6Glu) single nucleotide variant not specified [RCV004280806] Chr6:5085502 [GRCh38]
Chr6:5085736 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.200G>A (p.Arg67His) single nucleotide variant not specified [RCV004270408] Chr6:5216625 [GRCh38]
Chr6:5216858 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.208-34718C>G single nucleotide variant not specified [RCV004352346] Chr6:5144209 [GRCh38]
Chr6:5144443 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NC_000006.11:g.(?_5172693)_(5459957_?)del deletion Combined oxidative phosphorylation defect type 14 [RCV003388184] Chr6:5172693..5459957 [GRCh37]
Chr6:6p25.1		 pathogenic
NM_020408.6(LYRM4):c.93T>C (p.Tyr31=) single nucleotide variant not provided [RCV003880281] Chr6:5216732 [GRCh38]
Chr6:5216965 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.106A>G (p.Ile36Val) single nucleotide variant not provided [RCV003881054] Chr6:5216719 [GRCh38]
Chr6:5216952 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5108652)_(5261184_?)del deletion not specified [RCV003490876] Chr6:5108652..5261184 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.248G>C (p.Arg83Pro) single nucleotide variant not specified [RCV004510009] Chr6:5085733 [GRCh38]
Chr6:5085967 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.835G>A (p.Ala279Thr) single nucleotide variant not specified [RCV004510017] Chr6:5086320 [GRCh38]
Chr6:5086554 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.235C>G (p.Arg79Gly) single nucleotide variant not specified [RCV004510008] Chr6:5085720 [GRCh38]
Chr6:5085954 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.814C>G (p.Leu272Val) single nucleotide variant not specified [RCV004510016] Chr6:5086299 [GRCh38]
Chr6:5086533 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5216289-5316709)x1 copy number loss not specified [RCV003986634] Chr6:5216289..5316709 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5200686-5396374)x1 copy number loss not specified [RCV003986648] Chr6:5200686..5396374 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.215T>C (p.Ile72Thr) single nucleotide variant not provided [RCV003720366] Chr6:5109484 [GRCh38]
Chr6:5109718 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.1(chr6:5172636-5200031)x1 copy number loss not specified [RCV003986610] Chr6:5172636..5200031 [GRCh37]
Chr6:6p25.1		 pathogenic
NM_020408.6(LYRM4):c.207+29632_207+29634dup duplication LYRM4-related disorder [RCV003941720] Chr6:5186983..5186984 [GRCh38]
Chr6:5187217..5187218 [GRCh37]
Chr6:6p25.1		 likely benign
NM_001145115.3(PPP1R3G):c.586C>G (p.Arg196Gly) single nucleotide variant not specified [RCV004510013] Chr6:5086071 [GRCh38]
Chr6:5086305 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.17C>G (p.Ala6Gly) single nucleotide variant not specified [RCV004510007] Chr6:5085502 [GRCh38]
Chr6:5085736 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.*9G>A single nucleotide variant LYRM4-related disorder [RCV003976823] Chr6:5109414 [GRCh38]
Chr6:5109648 [GRCh37]
Chr6:6p25.1		 likely benign
NM_001145115.3(PPP1R3G):c.485C>T (p.Ser162Leu) single nucleotide variant not specified [RCV004510011] Chr6:5085970 [GRCh38]
Chr6:5086204 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.491T>C (p.Leu164Pro) single nucleotide variant not specified [RCV004510012] Chr6:5085976 [GRCh38]
Chr6:5086210 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.887G>A (p.Gly296Asp) single nucleotide variant not specified [RCV004510018] Chr6:5086372 [GRCh38]
Chr6:5086606 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_001145115.3(PPP1R3G):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004510019] Chr6:5085574 [GRCh38]
Chr6:5085808 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.208-29235A>G single nucleotide variant LYRM4-related disorder [RCV003899572] Chr6:5138726 [GRCh38]
Chr6:5138960 [GRCh37]
Chr6:6p25.1		 likely benign
NM_020408.6(LYRM4):c.208-5T>C single nucleotide variant LYRM4-related disorder [RCV003893838] Chr6:5109496 [GRCh38]
Chr6:5109730 [GRCh37]
Chr6:6p25.1		 likely benign
NM_001145115.3(PPP1R3G):c.587G>A (p.Arg196Gln) single nucleotide variant not specified [RCV004510014] Chr6:5086072 [GRCh38]
Chr6:5086306 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.63G>C (p.Lys21Asn) single nucleotide variant not specified [RCV004411053] Chr6:5260671 [GRCh38]
Chr6:5260904 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.182G>A (p.Arg61Lys) single nucleotide variant not specified [RCV004411051] Chr6:5216643 [GRCh38]
Chr6:5216876 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.176C>G (p.Ala59Gly) single nucleotide variant not specified [RCV004411050] Chr6:5216649 [GRCh38]
Chr6:5216882 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5216831)_(5216991_?)del deletion not provided [RCV004578879] Chr6:5216831..5216991 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.184G>A (p.Asp62Asn) single nucleotide variant not specified [RCV004640344] Chr6:5216641 [GRCh38]
Chr6:5216874 [GRCh37]
Chr6:6p25.1		 uncertain significance
NC_000006.11:g.(?_5109657)_(5771662_?)del deletion Combined oxidative phosphorylation defect type 14 [RCV004578676] Chr6:5109657..5771662 [GRCh37]
Chr6:6p25.1		 pathogenic
NM_001145115.3(PPP1R3G):c.976C>A (p.His326Asn) single nucleotide variant not specified [RCV004656287] Chr6:5086461 [GRCh38]
Chr6:5086695 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_020408.6(LYRM4):c.207+29656G>A single nucleotide variant not specified [RCV004636346] Chr6:5186962 [GRCh38]
Chr6:5187196 [GRCh37]
Chr6:6p25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5606
Count of miRNA genes:1276
Interacting mature miRNAs:1645
Transcripts:ENST00000330636, ENST00000455814, ENST00000458438, ENST00000463032, ENST00000464010, ENST00000468929, ENST00000480566, ENST00000500576, ENST00000606472
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407083298GWAS732274_Hobsolete_red blood cell distribution width QTL GWAS732274 (human)3e-17obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)652604615260462Human
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
407083297GWAS732273_Hobsolete_red blood cell distribution width QTL GWAS732273 (human)3e-12obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)650953955095396Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
407094368GWAS743344_Hsystolic blood pressure QTL GWAS743344 (human)0.000008systolic blood pressuresystolic blood pressure (CMO:0000004)651088855108886Human
407391309GWAS1040285_Heducational attainment QTL GWAS1040285 (human)2e-08educational attainment651021405102141Human
407005002GWAS653978_Hinterleukin 13 measurement QTL GWAS653978 (human)0.000003interleukin 13 measurement651406225140623Human
407390209GWAS1039185_Hvaginal microbiome measurement QTL GWAS1039185 (human)0.000007vaginal microbiome measurement650833685083369Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
407383556GWAS1032532_Hobsolete_red blood cell distribution width QTL GWAS1032532 (human)2e-22obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)652604615260462Human
407101772GWAS750748_Hbody mass index QTL GWAS750748 (human)8e-11body mass indexbody mass index (BMI) (CMO:0000105)652607035260704Human
407385148GWAS1034124_Hobsolete_red blood cell distribution width QTL GWAS1034124 (human)9e-23obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)651374685137469Human
407386780GWAS1035756_Hobsolete_red blood cell distribution width QTL GWAS1035756 (human)3e-25obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)652604615260462Human
407226706GWAS875682_Hbone density QTL GWAS875682 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)651064975106498Human
407050619GWAS699595_Hbody height QTL GWAS699595 (human)0.000003body height (VT:0001253)body height (CMO:0000106)652607035260704Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
406901979GWAS550955_Hinformation processing speed, response to cranial radiation therapy QTL GWAS550955 (human)0.0000004information processing speed, response to cranial radiation therapy650957985095799Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human
407393111GWAS1042087_Hvaginal microbiome measurement QTL GWAS1042087 (human)0.000008vaginal microbiome measurement650833685083369Human
407022365GWAS671341_Hsex interaction measurement, longitudinal BMI measurement QTL GWAS671341 (human)0.000002sex interaction measurement, longitudinal BMI measurementbody mass index (BMI) (CMO:0000105)651693505169351Human

Markers in Region
RH12460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,108,757 - 5,108,924UniSTSGRCh37
Build 3665,053,756 - 5,053,923RGDNCBI36
Celera66,335,667 - 6,335,834RGD
Cytogenetic Map6p25.1UniSTS
HuRef64,983,146 - 4,983,313UniSTS
GeneMap99-GB4 RH Map624.9UniSTS
AL035373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,240,309 - 5,240,435UniSTSGRCh37
Build 3665,185,308 - 5,185,434RGDNCBI36
Celera66,467,100 - 6,467,226RGD
Cytogenetic Map6p25.1UniSTS
HuRef65,114,820 - 5,114,946UniSTS
SHGC-108146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,208,838 - 5,209,128UniSTSGRCh37
Build 3665,153,837 - 5,154,127RGDNCBI36
Celera66,435,627 - 6,435,917RGD
Cytogenetic Map6p25.1UniSTS
HuRef65,083,320 - 5,083,610UniSTS
TNG Radiation Hybrid Map62941.0UniSTS
SHGC-57597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,109,498 - 5,109,680UniSTSGRCh37
Build 3665,054,497 - 5,054,679RGDNCBI36
Celera66,336,408 - 6,336,590RGD
Cytogenetic Map6p25.1UniSTS
HuRef64,983,887 - 4,984,069UniSTS
TNG Radiation Hybrid Map62902.0UniSTS
G20545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,108,682 - 5,108,848UniSTSGRCh37
Build 3665,053,681 - 5,053,847RGDNCBI36
Celera66,335,592 - 6,335,758RGD
Cytogenetic Map6p25.1UniSTS
HuRef64,983,071 - 4,983,237UniSTS
A005W03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,108,682 - 5,108,848UniSTSGRCh37
Build 3665,053,681 - 5,053,847RGDNCBI36
Celera66,335,592 - 6,335,758RGD
Cytogenetic Map6p25.1UniSTS
HuRef64,983,071 - 4,983,237UniSTS
GeneMap99-GB4 RH Map625.1UniSTS
NCBI RH Map666.0UniSTS
D6S1789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,108,690 - 5,108,852UniSTSGRCh37
Build 3665,053,689 - 5,053,851RGDNCBI36
Celera66,335,600 - 6,335,762RGD
Cytogenetic Map6p25.1UniSTS
HuRef64,983,079 - 4,983,241UniSTS
GeneMap99-GB4 RH Map624.9UniSTS
Whitehead-RH Map643.3UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map662.4UniSTS
D13S1553  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2-q34.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6p25.1UniSTS
D11S3374  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map6p25.1UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19p13.3UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA764791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF170070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI226933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI753819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM984752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX353584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX446965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK819966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA114665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA222333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY168919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000330636   ⟹   ENSP00000418787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,108,419 - 5,260,950 (-)Ensembl
Ensembl Acc Id: ENST00000455814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,236,284 - 5,260,721 (-)Ensembl
Ensembl Acc Id: ENST00000458438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,108,728 - 5,132,894 (-)Ensembl
Ensembl Acc Id: ENST00000463032   ⟹   ENSP00000417885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,108,473 - 5,216,738 (-)Ensembl
Ensembl Acc Id: ENST00000464010   ⟹   ENSP00000420026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,108,423 - 5,260,733 (-)Ensembl
Ensembl Acc Id: ENST00000468929   ⟹   ENSP00000418321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,108,419 - 5,260,742 (-)Ensembl
Ensembl Acc Id: ENST00000480566   ⟹   ENSP00000419928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,136,174 - 5,260,742 (-)Ensembl
Ensembl Acc Id: ENST00000500576   ⟹   ENSP00000443900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,186,600 - 5,260,737 (-)Ensembl
Ensembl Acc Id: ENST00000606472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,103,629 - 5,109,234 (-)Ensembl
RefSeq Acc Id: NM_001164840   ⟹   NP_001158312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,186,600 - 5,260,950 (-)NCBI
GRCh3765,047,395 - 5,261,172 (-)NCBI
Celera66,335,563 - 6,487,960 (-)RGD
HuRef64,983,042 - 5,135,598 (-)NCBI
CHM1_165,189,519 - 5,263,825 (-)NCBI
T2T-CHM13v2.065,055,826 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164841   ⟹   NP_001158313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,108,419 - 5,260,950 (-)NCBI
GRCh3765,047,395 - 5,261,172 (-)NCBI
Celera66,335,563 - 6,487,960 (-)RGD
HuRef64,983,042 - 5,135,598 (-)NCBI
CHM1_165,110,792 - 5,263,825 (-)NCBI
T2T-CHM13v2.064,977,757 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318782   ⟹   NP_001305711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,136,174 - 5,260,950 (-)NCBI
CHM1_165,138,289 - 5,263,825 (-)NCBI
T2T-CHM13v2.065,005,303 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318783   ⟹   NP_001305712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,068,327 - 5,260,950 (-)NCBI
CHM1_165,070,687 - 5,263,825 (-)NCBI
T2T-CHM13v2.064,937,542 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020408   ⟹   NP_065141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,108,419 - 5,260,950 (-)NCBI
GRCh3765,047,395 - 5,261,172 (-)NCBI
Build 3665,053,652 - 5,206,167 (-)NCBI Archive
Celera66,335,563 - 6,487,960 (-)RGD
HuRef64,983,042 - 5,135,598 (-)NCBI
CHM1_165,110,792 - 5,263,825 (-)NCBI
T2T-CHM13v2.064,977,757 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104417
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,108,419 - 5,260,950 (-)NCBI
HuRef64,983,042 - 5,135,598 (-)NCBI
CHM1_165,110,792 - 5,263,825 (-)NCBI
T2T-CHM13v2.064,977,757 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104418
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,108,419 - 5,260,950 (-)NCBI
HuRef64,983,042 - 5,135,598 (-)NCBI
CHM1_165,110,792 - 5,263,825 (-)NCBI
T2T-CHM13v2.064,977,757 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134856
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,068,327 - 5,260,950 (-)NCBI
CHM1_165,070,687 - 5,263,825 (-)NCBI
T2T-CHM13v2.064,937,542 - 5,130,157 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011083   ⟹   XP_016866572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,047,155 - 5,260,950 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011084   ⟹   XP_016866573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,031,753 - 5,260,950 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054355978   ⟹   XP_054211953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.064,900,453 - 5,130,157 (-)NCBI
RefSeq Acc Id: XM_054355979   ⟹   XP_054211954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.064,916,367 - 5,130,157 (-)NCBI
RefSeq Acc Id: NP_065141   ⟸   NM_020408
- Peptide Label: isoform 1
- UniProtKB: A8K543 (UniProtKB/Swiss-Prot),   Q5XKP1 (UniProtKB/Swiss-Prot),   Q9HD34 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158313   ⟸   NM_001164841
- Peptide Label: isoform 3
- UniProtKB: C9JRX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158312   ⟸   NM_001164840
- Peptide Label: isoform 2
- UniProtKB: F5H189 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305712   ⟸   NM_001318783
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001305711   ⟸   NM_001318782
- Peptide Label: isoform 4
- UniProtKB: C9JY28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866573   ⟸   XM_017011084
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016866572   ⟸   XM_017011083
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000417885   ⟸   ENST00000463032
Ensembl Acc Id: ENSP00000420026   ⟸   ENST00000464010
Ensembl Acc Id: ENSP00000418321   ⟸   ENST00000468929
Ensembl Acc Id: ENSP00000419928   ⟸   ENST00000480566
Ensembl Acc Id: ENSP00000443900   ⟸   ENST00000500576
Ensembl Acc Id: ENSP00000418787   ⟸   ENST00000330636
RefSeq Acc Id: XP_054211953   ⟸   XM_054355978
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211954   ⟸   XM_054355979
- Peptide Label: isoform X2
Protein Domains
Complex 1 LYR protein

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HD34-F1-model_v2 AlphaFold Q9HD34 1-91 view protein structure

Promoters
RGD ID:6804234
Promoter ID:HG_KWN:52210
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001164840,   NM_006567,   OTTHUMT00000039744,   UC003MWP.1,   UC003MWQ.1,   UC010JNU.1,   UC010JNV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3665,205,611 - 5,206,827 (+)MPROMDB
RGD ID:6871942
Promoter ID:EPDNEW_H9135
Type:initiation region
Name:LYRM4_1
Description:LYR motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9136  EPDNEW_H9138  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,260,742 - 5,260,802EPDNEW
RGD ID:6871944
Promoter ID:EPDNEW_H9136
Type:initiation region
Name:LYRM4_2
Description:LYR motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9135  EPDNEW_H9138  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,260,950 - 5,261,010EPDNEW
RGD ID:6871948
Promoter ID:EPDNEW_H9138
Type:initiation region
Name:LYRM4_3
Description:LYR motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9135  EPDNEW_H9136  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,261,252 - 5,261,312EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21365 AgrOrtholog
COSMIC LYRM4 COSMIC
Ensembl Genes ENSG00000214113 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330636 ENTREZGENE
  ENST00000330636.9 UniProtKB/Swiss-Prot
  ENST00000463032 ENTREZGENE
  ENST00000463032.5 UniProtKB/TrEMBL
  ENST00000464010 ENTREZGENE
  ENST00000464010.5 UniProtKB/TrEMBL
  ENST00000468929 ENTREZGENE
  ENST00000468929.5 UniProtKB/TrEMBL
  ENST00000480566 ENTREZGENE
  ENST00000480566.5 UniProtKB/TrEMBL
  ENST00000500576 ENTREZGENE
  ENST00000500576.4 UniProtKB/TrEMBL
GTEx ENSG00000214113 GTEx
HGNC ID HGNC:21365 ENTREZGENE
Human Proteome Map LYRM4 Human Proteome Map
InterPro Complex1_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complex1_LYR_LYRM4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISC_assembly_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57128 UniProtKB/Swiss-Prot
NCBI Gene 57128 ENTREZGENE
OMIM 613311 OMIM
PANTHER LYR MOTIF-CONTAINING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN C6ORF149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Complex1_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394762 PharmGKB
UniProt A8K543 ENTREZGENE
  C9J799_HUMAN UniProtKB/TrEMBL
  C9JRX8 ENTREZGENE, UniProtKB/TrEMBL
  C9JY28 ENTREZGENE, UniProtKB/TrEMBL
  F5H189 ENTREZGENE, UniProtKB/TrEMBL
  H7C4Q5_HUMAN UniProtKB/TrEMBL
  LYRM4_HUMAN UniProtKB/Swiss-Prot
  Q5XKP1 ENTREZGENE
  Q9HD34 ENTREZGENE
UniProt Secondary A8K543 UniProtKB/Swiss-Prot
  Q5XKP1 UniProtKB/Swiss-Prot