RPL10 (ribosomal protein L10) - Rat Genome Database

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Gene: RPL10 (ribosomal protein L10) Homo sapiens
Analyze
Symbol: RPL10
Name: ribosomal protein L10
RGD ID: 1350175
HGNC Page HGNC
Description: Exhibits translation regulator activity. A structural constituent of ribosome. Involved in embryonic brain development; negative regulation of apoptotic process; and regulation of cellular macromolecule biosynthetic process. Localizes to cytosolic large ribosomal subunit; endoplasmic reticulum; and nucleus. Colocalizes with smooth endoplasmic reticulum. Implicated in autistic disorder and syndromic X-linked mental retardation 35.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 60S ribosomal protein L10; AUTSX5; DKFZp686J1851; DXS648; DXS648E; FLJ23544; FLJ27072; L10; laminin receptor homolog; large ribosomal subunit protein uL16; MRXS35; NOV; QM; tumor suppressor QM; Wilms tumor-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RPL10P1   RPL10P10   RPL10P11   RPL10P12   RPL10P13   RPL10P14   RPL10P15   RPL10P16   RPL10P17   RPL10P18   RPL10P19   RPL10P2   RPL10P3   RPL10P4   RPL10P5   RPL10P6   RPL10P7   RPL10P8   RPL10P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,389,955 - 154,409,168 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,398,065 - 154,402,339 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,626,406 - 153,630,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,279,912 - 153,283,874 (+)NCBINCBI36hg18NCBI36
Build 34X153,147,564 - 153,151,527NCBI
CeleraX153,787,629 - 153,791,737 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,204,017 - 142,208,069 (+)NCBIHuRef
CHM1_1X153,538,049 - 153,542,323 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Absent speech  (IAGP)
Ankle flexion contracture  (IAGP)
Anteverted ears  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachydactyly  (IAGP)
Branchial cyst  (IAGP)
Broad forehead  (IAGP)
Camptodactyly  (IAGP)
Cerebellar hypoplasia  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Contractures of the joints of the lower limbs  (IAGP)
Cryptorchidism  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Dolichocephaly  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Exotropia  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Finger syndactyly  (IAGP)
Focal-onset seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hirsutism  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased theta frequency activity in EEG  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Knee flexion contracture  (IAGP)
Laryngomalacia  (IAGP)
Lipoma  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microretrognathia  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Narrow palpebral fissure  (IAGP)
Osteoporosis  (IAGP)
Polyhydramnios  (IAGP)
Premature birth  (IAGP)
Progressive microcephaly  (IAGP)
Protruding ear  (IAGP)
Pulmonary artery stenosis  (IAGP)
Recurrent infections  (IAGP)
Rod-cone dystrophy  (IAGP)
Sacral dimple  (IAGP)
Sacral lipoma  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short finger  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Smooth philtrum  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Tapered finger  (IAGP)
Thin upper lip vermilion  (IAGP)
Toe syndactyly  (IAGP)
Ventricular septal defect  (IAGP)
Wide nasal bridge  (IAGP)
Wide nasal ridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1303197   PMID:1330878   PMID:1339145   PMID:1534224   PMID:1658743   PMID:7821789   PMID:8076819   PMID:8081358   PMID:8125298   PMID:8668549   PMID:8681137   PMID:8722009  
PMID:8733135   PMID:8780716   PMID:9016777   PMID:9204867   PMID:9443083   PMID:9582194   PMID:10508860   PMID:11076863   PMID:11256614   PMID:12138090   PMID:12477932   PMID:12777385  
PMID:12962325   PMID:14567916   PMID:15189156   PMID:15303970   PMID:15489334   PMID:15489336   PMID:15635413   PMID:15772651   PMID:15790807   PMID:16169070   PMID:16331298   PMID:16341674  
PMID:16344560   PMID:16381901   PMID:16627977   PMID:16741966   PMID:16940977   PMID:17361185   PMID:17566674   PMID:18007048   PMID:18029348   PMID:18258260   PMID:18457437   PMID:19166581  
PMID:19738201   PMID:19913121   PMID:19928837   PMID:19946888   PMID:20020773   PMID:20628086   PMID:21081503   PMID:21145461   PMID:21182205   PMID:21567917   PMID:21873635   PMID:21900206  
PMID:21907836   PMID:22119785   PMID:22145905   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22863883   PMID:22898364   PMID:22912744   PMID:22939629  
PMID:22944692   PMID:23084401   PMID:23125841   PMID:23246001   PMID:23263491   PMID:23398456   PMID:23402259   PMID:23403292   PMID:23443559   PMID:24457600   PMID:24711643   PMID:24722188  
PMID:24965446   PMID:25315684   PMID:25316788   PMID:25437307   PMID:25756610   PMID:25798074   PMID:25846674   PMID:25921289   PMID:25963833   PMID:26186194   PMID:26290468   PMID:26344197  
PMID:26496610   PMID:26549023   PMID:26618866   PMID:26816005   PMID:26831064   PMID:26949251   PMID:26972000   PMID:27025967   PMID:27353360   PMID:27503909   PMID:27591049   PMID:27684187  
PMID:27705803   PMID:27726420   PMID:27926873   PMID:27976729   PMID:28077445   PMID:28302793   PMID:28416769   PMID:28428269   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28700943  
PMID:28744013   PMID:28902428   PMID:28927264   PMID:28977470   PMID:28977666   PMID:29066376   PMID:29117863   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29420262  
PMID:29507755   PMID:29509190   PMID:29511296   PMID:29635000   PMID:29676528   PMID:29721183   PMID:29773831   PMID:29777862   PMID:29795372   PMID:29802200   PMID:29845934   PMID:29930300  
PMID:29955894   PMID:29991511   PMID:30021884   PMID:30033366   PMID:30172100   PMID:30209976   PMID:30320910   PMID:30320934   PMID:30349055   PMID:30459231   PMID:30463901   PMID:30575818  
PMID:30804502   PMID:30890647   PMID:30948266   PMID:30997501   PMID:31048545   PMID:31253590   PMID:31300519   PMID:31405213   PMID:31527615   PMID:31586073   PMID:31620119   PMID:31640799  
PMID:31685992   PMID:31722399   PMID:31732153   PMID:31980649   PMID:32129710   PMID:32529326   PMID:32786267   PMID:32788342   PMID:32814053  


Genomics

Comparative Map Data
RPL10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,389,955 - 154,409,168 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,398,065 - 154,402,339 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,626,406 - 153,630,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,279,912 - 153,283,874 (+)NCBINCBI36hg18NCBI36
Build 34X153,147,564 - 153,151,527NCBI
CeleraX153,787,629 - 153,791,737 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,204,017 - 142,208,069 (+)NCBIHuRef
CHM1_1X153,538,049 - 153,542,323 (+)NCBICHM1_1
Rpl10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,314,422 - 73,316,741 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,314,418 - 73,316,741 (+)Ensembl
GRCm38X74,270,816 - 74,273,135 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,270,812 - 74,273,135 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,516,155 - 71,518,474 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,523,577 - 70,525,846 (+)NCBImm8
CeleraX65,524,593 - 65,526,912 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.94NCBI
Rpl10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,054,547 - 152,056,757 (+)NCBI
Rnor_6.0 EnsemblX156,438,251 - 156,440,461 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,438,251 - 156,440,461 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,178,398 - 152,180,608 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,336,632 - 160,338,842 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X160,413,020 - 160,415,223 (-)NCBI
Celera1135,839,998 - 135,842,208 (-)NCBICelera
Cytogenetic MapXq37NCBI
Rpl10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580903,412 - 906,439 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580903,618 - 906,439 (+)NCBIChiLan1.0ChiLan1.0
RPL10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,707,645 - 153,712,855 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X143,839,739 - 143,844,026 (+)NCBIMhudiblu_PPA_v0panPan3
RPL10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,098,020 - 122,100,719 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,098,020 - 122,100,719 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,239,741 - 125,242,433 (+)NCBI
UMICH_Zoey_3.1X121,008,797 - 121,011,489 (+)NCBI
UNSW_CanFamBas_1.0X123,523,664 - 123,526,357 (+)NCBI
UU_Cfam_GSD_1.0X123,285,544 - 123,288,236 (+)NCBI
Rpl10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,409,172 - 119,411,802 (+)NCBI
SpeTri2.0NW_0049368091,146,994 - 1,149,573 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPL10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,926,482 - 124,929,797 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,927,249 - 124,929,791 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RPL10
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Rpl10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946860,639 - 863,636 (+)NCBI

Position Markers
RP_L10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,876 - 153,629,038UniSTSGRCh37
Build 36X153,282,070 - 153,282,232RGDNCBI36
CeleraX153,789,932 - 153,790,094RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,265 - 142,206,427UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
Whitehead-RH MapX323.1UniSTS
RH45180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,940 - 153,627,176UniSTSGRCh37
Build 36X153,280,134 - 153,280,370RGDNCBI36
CeleraX153,787,997 - 153,788,233RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,329 - 142,204,565UniSTS
D17S1505E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37153,175,030 - 53,175,169UniSTSGRCh37
GRCh37139,500,084 - 39,500,223UniSTSGRCh37
Build 36139,272,671 - 39,272,810RGDNCBI36
Celera151,461,790 - 51,461,929UniSTS
Celera137,780,560 - 37,780,699RGD
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map1p34.2-p33UniSTS
Cytogenetic MapXq28UniSTS
HuRef151,290,902 - 51,291,041UniSTS
HuRef137,619,467 - 37,619,606UniSTS
G65816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,314 - 153,629,271UniSTSGRCh37
Build 36X153,281,508 - 153,282,465RGDNCBI36
CeleraX153,789,371 - 153,790,327RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,703 - 142,206,660UniSTS
ECD01498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,625,694 - 153,626,557UniSTSGRCh37
Build 36X153,278,888 - 153,279,751RGDNCBI36
CeleraX153,786,753 - 153,787,615RGD
Cytogenetic MapXq28UniSTS
ECD01499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,491 - 153,629,355UniSTSGRCh37
Build 36X153,281,685 - 153,282,549RGDNCBI36
CeleraX153,789,548 - 153,790,411RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,880 - 142,206,744UniSTS
ECD01698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,420 - 153,630,276UniSTSGRCh37
Build 36X153,282,614 - 153,283,470RGDNCBI36
CeleraX153,790,476 - 153,791,332RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,809 - 142,207,665UniSTS
ECD02003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,627,592 - 153,628,437UniSTSGRCh37
Build 36X153,280,786 - 153,281,631RGDNCBI36
CeleraX153,788,649 - 153,789,494RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,981 - 142,205,826UniSTS
ECD02421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,682 - 153,627,511UniSTSGRCh37
Build 36X153,279,876 - 153,280,705RGDNCBI36
CeleraX153,787,739 - 153,788,568RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,071 - 142,204,900UniSTS
REN89410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,624,703 - 153,624,974UniSTSGRCh37
Build 36X153,277,897 - 153,278,168RGDNCBI36
CeleraX153,785,762 - 153,786,033RGD
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q24.11UniSTS
HuRefX142,142,185 - 142,142,456UniSTS
REN89412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,625,538 - 153,625,777UniSTSGRCh37
Build 36X153,278,732 - 153,278,971RGDNCBI36
CeleraX153,786,597 - 153,786,836RGD
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q24.11UniSTS
HuRefX142,141,381 - 142,141,620UniSTS
REN89413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,625,692 - 153,625,955UniSTSGRCh37
Build 36X153,278,886 - 153,279,149RGDNCBI36
CeleraX153,786,751 - 153,787,014RGD
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q24.11UniSTS
HuRefX142,141,203 - 142,141,466UniSTS
REN89414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,625,939 - 153,626,210UniSTSGRCh37
Build 36X153,279,133 - 153,279,404RGDNCBI36
CeleraX153,786,998 - 153,787,268RGD
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q24.11UniSTS
HuRefX142,140,948 - 142,141,219UniSTS
REN89415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,199 - 153,626,455UniSTSGRCh37
Build 36X153,279,393 - 153,279,649RGDNCBI36
CeleraX153,787,257 - 153,787,513RGD
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q24.11UniSTS
HuRefX142,140,703 - 142,140,959UniSTS
REN89416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,432 - 153,626,699UniSTSGRCh37
Build 36X153,279,626 - 153,279,893RGDNCBI36
CeleraX153,787,490 - 153,787,756RGD
Cytogenetic MapXq28UniSTS
REN89417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,665 - 153,626,914UniSTSGRCh37
Build 36X153,279,859 - 153,280,108RGDNCBI36
CeleraX153,787,722 - 153,787,971RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,054 - 142,204,303UniSTS
REN89418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,891 - 153,627,119UniSTSGRCh37
Build 36X153,280,085 - 153,280,313RGDNCBI36
CeleraX153,787,948 - 153,788,176RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,280 - 142,204,508UniSTS
REN89419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,627,100 - 153,627,350UniSTSGRCh37
Build 36X153,280,294 - 153,280,544RGDNCBI36
CeleraX153,788,157 - 153,788,407RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,489 - 142,204,739UniSTS
REN89420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,627,323 - 153,627,565UniSTSGRCh37
Build 36X153,280,517 - 153,280,759RGDNCBI36
CeleraX153,788,380 - 153,788,622RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,712 - 142,204,954UniSTS
REN89421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,627,542 - 153,627,767UniSTSGRCh37
Build 36X153,280,736 - 153,280,961RGDNCBI36
CeleraX153,788,599 - 153,788,824RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,931 - 142,205,156UniSTS
REN89422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,627,756 - 153,628,007UniSTSGRCh37
Build 36X153,280,950 - 153,281,201RGDNCBI36
CeleraX153,788,813 - 153,789,064RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,145 - 142,205,396UniSTS
REN89423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,627,917 - 153,628,147UniSTSGRCh37
Build 36X153,281,111 - 153,281,341RGDNCBI36
CeleraX153,788,974 - 153,789,204RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,306 - 142,205,536UniSTS
REN89424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,116 - 153,628,366UniSTSGRCh37
Build 36X153,281,310 - 153,281,560RGDNCBI36
CeleraX153,789,173 - 153,789,423RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,505 - 142,205,755UniSTS
REN89425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,355 - 153,628,586UniSTSGRCh37
Build 36X153,281,549 - 153,281,780RGDNCBI36
CeleraX153,789,412 - 153,789,643RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,744 - 142,205,975UniSTS
REN89426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,562 - 153,628,787UniSTSGRCh37
Build 36X153,281,756 - 153,281,981RGDNCBI36
CeleraX153,789,619 - 153,789,843RGD
Cytogenetic MapXq28UniSTS
HuRefX142,205,951 - 142,206,175UniSTS
REN89427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,764 - 153,629,034UniSTSGRCh37
Build 36X153,281,958 - 153,282,228RGDNCBI36
CeleraX153,789,820 - 153,790,090RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,153 - 142,206,423UniSTS
REN89428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,033 - 153,629,290UniSTSGRCh37
Build 36X153,282,227 - 153,282,484RGDNCBI36
CeleraX153,790,089 - 153,790,346RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,422 - 142,206,679UniSTS
REN89429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,267 - 153,629,499UniSTSGRCh37
Build 36X153,282,461 - 153,282,693RGDNCBI36
CeleraX153,790,323 - 153,790,555RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,656 - 142,206,888UniSTS
REN89430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,486 - 153,629,734UniSTSGRCh37
Build 36X153,282,680 - 153,282,928RGDNCBI36
CeleraX153,790,542 - 153,790,790RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,875 - 142,207,123UniSTS
REN89431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,711 - 153,629,963UniSTSGRCh37
Build 36X153,282,905 - 153,283,157RGDNCBI36
CeleraX153,790,767 - 153,791,019RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,100 - 142,207,352UniSTS
REN89432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,961 - 153,630,188UniSTSGRCh37
Build 36X153,283,155 - 153,283,382RGDNCBI36
CeleraX153,791,017 - 153,791,244RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,350 - 142,207,577UniSTS
REN89433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,178 - 153,630,402UniSTSGRCh37
Build 36X153,283,372 - 153,283,596RGDNCBI36
CeleraX153,791,234 - 153,791,458RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,567 - 142,207,791UniSTS
REN89434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,383 - 153,630,627UniSTSGRCh37
Build 36X153,283,577 - 153,283,821RGDNCBI36
CeleraX153,791,439 - 153,791,684RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,772 - 142,208,016UniSTS
REN89435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,602 - 153,630,837UniSTSGRCh37
Build 36X153,283,796 - 153,284,031RGDNCBI36
CeleraX153,791,659 - 153,791,894RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,991 - 142,208,226UniSTS
REN89436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,798 - 153,631,024UniSTSGRCh37
Build 36X153,283,992 - 153,284,218RGDNCBI36
CeleraX153,791,855 - 153,792,081RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,187 - 142,208,413UniSTS
REN89440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,670 - 153,631,936UniSTSGRCh37
Build 36X153,284,864 - 153,285,130RGDNCBI36
CeleraX153,792,727 - 153,792,993RGD
Cytogenetic MapXq28UniSTS
stSG604018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,625,519 - 153,625,780UniSTSGRCh37
Build 36X153,278,713 - 153,278,974RGDNCBI36
CeleraX153,786,578 - 153,786,839RGD
HuRefX142,141,378 - 142,141,639UniSTS
stSG604019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,625,812 - 153,626,896UniSTSGRCh37
Build 36X153,279,006 - 153,280,090RGDNCBI36
CeleraX153,786,871 - 153,787,953RGD
stSG604020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,626,877 - 153,628,296UniSTSGRCh37
Build 36X153,280,071 - 153,281,490RGDNCBI36
CeleraX153,787,934 - 153,789,353RGD
Cytogenetic MapXq28UniSTS
HuRefX142,204,266 - 142,205,685UniSTS
stSG604021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,628,277 - 153,629,290UniSTSGRCh37
Build 36X153,281,471 - 153,282,484RGDNCBI36
CeleraX153,789,334 - 153,790,346RGD
HuRefX142,205,666 - 142,206,679UniSTS
stSG604022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,271 - 153,630,631UniSTSGRCh37
Build 36X153,282,465 - 153,283,825RGDNCBI36
CeleraX153,790,327 - 153,791,688RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,660 - 142,208,020UniSTS
G54829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,603 - 153,630,599UniSTSGRCh37
CeleraX153,790,659 - 153,791,656UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,206,992 - 142,207,988UniSTS
DXS6979E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6051
Count of miRNA genes:1204
Interacting mature miRNAs:1533
Transcripts:ENST00000344746, ENST00000369817, ENST00000406022, ENST00000424325, ENST00000427682, ENST00000428169, ENST00000436473, ENST00000449494, ENST00000451365, ENST00000458500, ENST00000467168, ENST00000474786, ENST00000479366, ENST00000482732, ENST00000485196, ENST00000489200, ENST00000491035, ENST00000492572
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 2207 2100 1061 196 1145 34 3978 1665 865 114 887 1296 163 1202 2690 1
Medium 232 891 665 428 806 431 379 532 2869 305 573 317 12 1 2 98 5 2
Low
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA187603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB061857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF486812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF589060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF667333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM761549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM845289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA776692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD521460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA589764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ369716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F30590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L44140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M73791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S35959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S35960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344746   ⟹   ENSP00000341730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,372 - 154,402,339 (+)Ensembl
RefSeq Acc Id: ENST00000369817   ⟹   ENSP00000358832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,397,154 - 154,400,917 (+)Ensembl
RefSeq Acc Id: ENST00000406022   ⟹   ENSP00000385621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,890 - 154,400,909 (+)Ensembl
RefSeq Acc Id: ENST00000424325   ⟹   ENSP00000413436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,230 - 154,402,339 (+)Ensembl
RefSeq Acc Id: ENST00000427682   ⟹   ENSP00000405064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,399,883 - 154,403,497 (+)Ensembl
RefSeq Acc Id: ENST00000428169   ⟹   ENSP00000398047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,399,883 - 154,409,168 (+)Ensembl
RefSeq Acc Id: ENST00000436473   ⟹   ENSP00000388600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,367 - 154,400,811 (+)Ensembl
RefSeq Acc Id: ENST00000449494   ⟹   ENSP00000407754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,399,883 - 154,403,490 (+)Ensembl
RefSeq Acc Id: ENST00000451365   ⟹   ENSP00000406125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,399,366 - 154,403,697 (+)Ensembl
RefSeq Acc Id: ENST00000458500   ⟹   ENSP00000395025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,378 - 154,400,917 (+)Ensembl
RefSeq Acc Id: ENST00000467168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,497 - 154,400,913 (+)Ensembl
RefSeq Acc Id: ENST00000479366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,397,749 - 154,398,619 (+)Ensembl
RefSeq Acc Id: ENST00000482732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,388 - 154,400,913 (+)Ensembl
RefSeq Acc Id: ENST00000485196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,379 - 154,400,817 (+)Ensembl
RefSeq Acc Id: ENST00000489200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,377 - 154,400,898 (+)Ensembl
RefSeq Acc Id: ENST00000491035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,377 - 154,400,913 (+)Ensembl
RefSeq Acc Id: ENST00000492572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,389,955 - 154,400,897 (+)Ensembl
RefSeq Acc Id: ENST00000618723   ⟹   ENSP00000479103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,398,230 - 154,402,339 (+)Ensembl
RefSeq Acc Id: NM_001256577   ⟹   NP_001243506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,065 - 154,402,339 (+)NCBI
GRCh37X153,626,571 - 153,630,901 (+)NCBI
HuRefX142,204,017 - 142,208,069 (+)NCBI
CHM1_1X153,538,049 - 153,542,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256580   ⟹   NP_001243509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,065 - 154,402,339 (+)NCBI
GRCh37X153,626,571 - 153,630,901 (+)NCBI
HuRefX142,204,017 - 142,208,069 (+)NCBI
CHM1_1X153,538,049 - 153,542,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303624   ⟹   NP_001290553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,377 - 154,402,332 (+)NCBI
CHM1_1X153,538,356 - 153,542,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303625   ⟹   NP_001290554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,065 - 154,402,339 (+)NCBI
CHM1_1X153,538,049 - 153,542,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303626   ⟹   NP_001290555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,497 - 154,402,339 (+)NCBI
CHM1_1X153,538,481 - 153,542,323 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006013   ⟹   NP_006004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,377 - 154,402,332 (+)NCBI
GRCh37X153,626,571 - 153,630,901 (+)NCBI
Build 36X153,279,912 - 153,283,874 (+)NCBI Archive
HuRefX142,204,017 - 142,208,069 (+)ENTREZGENE
CHM1_1X153,538,049 - 153,542,323 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001243506 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243509 (Get FASTA)   NCBI Sequence Viewer  
  NP_001290553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001290554 (Get FASTA)   NCBI Sequence Viewer  
  NP_001290555 (Get FASTA)   NCBI Sequence Viewer  
  NP_006004 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36021 (Get FASTA)   NCBI Sequence Viewer  
  AAA36378 (Get FASTA)   NCBI Sequence Viewer  
  AAA63253 (Get FASTA)   NCBI Sequence Viewer  
  AAA92646 (Get FASTA)   NCBI Sequence Viewer  
  AAB22173 (Get FASTA)   NCBI Sequence Viewer  
  AAB27665 (Get FASTA)   NCBI Sequence Viewer  
  AAD14832 (Get FASTA)   NCBI Sequence Viewer  
  AAD14891 (Get FASTA)   NCBI Sequence Viewer  
  AAG17265 (Get FASTA)   NCBI Sequence Viewer  
  AAH03358 (Get FASTA)   NCBI Sequence Viewer  
  AAH26276 (Get FASTA)   NCBI Sequence Viewer  
  AAH71918 (Get FASTA)   NCBI Sequence Viewer  
  AAL88713 (Get FASTA)   NCBI Sequence Viewer  
  ABC88559 (Get FASTA)   NCBI Sequence Viewer  
  ABC88560 (Get FASTA)   NCBI Sequence Viewer  
  ABC88561 (Get FASTA)   NCBI Sequence Viewer  
  ABC88562 (Get FASTA)   NCBI Sequence Viewer  
  ABC88563 (Get FASTA)   NCBI Sequence Viewer  
  ABC88564 (Get FASTA)   NCBI Sequence Viewer  
  ABC88565 (Get FASTA)   NCBI Sequence Viewer  
  ABC88566 (Get FASTA)   NCBI Sequence Viewer  
  ABC88567 (Get FASTA)   NCBI Sequence Viewer  
  ABC88568 (Get FASTA)   NCBI Sequence Viewer  
  ABC88569 (Get FASTA)   NCBI Sequence Viewer  
  ABC88570 (Get FASTA)   NCBI Sequence Viewer  
  ABC88571 (Get FASTA)   NCBI Sequence Viewer  
  ABC88572 (Get FASTA)   NCBI Sequence Viewer  
  AHW56574 (Get FASTA)   NCBI Sequence Viewer  
  AHW56575 (Get FASTA)   NCBI Sequence Viewer  
  AHW56619 (Get FASTA)   NCBI Sequence Viewer  
  BAA05776 (Get FASTA)   NCBI Sequence Viewer  
  BAA28595 (Get FASTA)   NCBI Sequence Viewer  
  BAB15688 (Get FASTA)   NCBI Sequence Viewer  
  CAG33078 (Get FASTA)   NCBI Sequence Viewer  
  CAG46866 (Get FASTA)   NCBI Sequence Viewer  
  EAW72736 (Get FASTA)   NCBI Sequence Viewer  
  EAW72737 (Get FASTA)   NCBI Sequence Viewer  
  EAW72738 (Get FASTA)   NCBI Sequence Viewer  
  EAW72739 (Get FASTA)   NCBI Sequence Viewer  
  EAW72740 (Get FASTA)   NCBI Sequence Viewer  
  EAW72741 (Get FASTA)   NCBI Sequence Viewer  
  P27635 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006004   ⟸   NM_006013
- Peptide Label: isoform a
- UniProtKB: P27635 (UniProtKB/Swiss-Prot),   X5D2T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243506   ⟸   NM_001256577
- Peptide Label: isoform b
- UniProtKB: P27635 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243509   ⟸   NM_001256580
- Peptide Label: isoform c
- UniProtKB: P27635 (UniProtKB/Swiss-Prot),   A0A087WV22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290554   ⟸   NM_001303625
- Peptide Label: isoform a
- UniProtKB: P27635 (UniProtKB/Swiss-Prot),   X5D2T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290553   ⟸   NM_001303624
- Peptide Label: isoform a
- UniProtKB: P27635 (UniProtKB/Swiss-Prot),   X5D2T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290555   ⟸   NM_001303626
- Peptide Label: isoform d
- UniProtKB: P27635 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000413436   ⟸   ENST00000424325
RefSeq Acc Id: ENSP00000406125   ⟸   ENST00000451365
RefSeq Acc Id: ENSP00000405064   ⟸   ENST00000427682
RefSeq Acc Id: ENSP00000398047   ⟸   ENST00000428169
RefSeq Acc Id: ENSP00000395025   ⟸   ENST00000458500
RefSeq Acc Id: ENSP00000385621   ⟸   ENST00000406022
RefSeq Acc Id: ENSP00000479103   ⟸   ENST00000618723
RefSeq Acc Id: ENSP00000358832   ⟸   ENST00000369817
RefSeq Acc Id: ENSP00000407754   ⟸   ENST00000449494
RefSeq Acc Id: ENSP00000388600   ⟸   ENST00000436473
RefSeq Acc Id: ENSP00000341730   ⟸   ENST00000344746
Protein Domains
Ribosomal_L16

Promoters
RGD ID:6809247
Promoter ID:HG_KWN:68644
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344746,   ENST00000369810,   ENST00000369817,   NM_006013,   NR_026898,   OTTHUMT00000080934,   OTTHUMT00000080936,   OTTHUMT00000080937,   OTTHUMT00000127776,   OTTHUMT00000127778,   OTTHUMT00000286446,   OTTHUMT00000316547,   OTTHUMT00000316550,   OTTHUMT00000316551,   UC004FKP.1,   UC004FKQ.1,   UC004FKR.1,   UC010NUW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,279,161 - 153,281,412 (+)MPROMDB
RGD ID:6850720
Promoter ID:EP73154
Type:single initiation site
Name:HS_RPL10
Description:Ribosomal protein L10.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,280,022 - 153,280,082EPD
RGD ID:13628606
Promoter ID:EPDNEW_H29541
Type:initiation region
Name:RPL10_1
Description:ribosomal protein L10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29542  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,377 - 154,398,437EPDNEW
RGD ID:13628608
Promoter ID:EPDNEW_H29542
Type:initiation region
Name:RPL10_2
Description:ribosomal protein L10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29541  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,398,487 - 154,398,547EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001303626.1(RPL10):c.*167C>A single nucleotide variant Autism, susceptibility to, X-linked 5 [RCV000022883] ChrX:154400825 [GRCh38]
ChrX:153629166 [GRCh37]
ChrX:Xq28
risk factor
NM_001303626.1(RPL10):c.*190C>G single nucleotide variant Autism, susceptibility to, X-linked 5 [RCV000022884]|not provided [RCV000179911] ChrX:154400848 [GRCh38]
ChrX:153629189 [GRCh37]
ChrX:Xq28
risk factor|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
uncertain significance
NM_001009932.1(DNASE1L1):c.*1851C>T single nucleotide variant not provided [RCV000081343] ChrX:154400856 [GRCh38]
ChrX:153629197 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001303626.1(RPL10):c.*156= single nucleotide variant History of neurodevelopmental disorder [RCV000715271]|not specified [RCV000081344] ChrX:154400814 [GRCh38]
ChrX:153629155 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006013.4(RPL10):c.23+9T>A single nucleotide variant not specified [RCV000118190] ChrX:154398551 [GRCh38]
ChrX:153626892 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154363949-154405679)x3 copy number gain See cases [RCV000137621] ChrX:154363949..154405679 [GRCh38]
ChrX:153592317..153634020 [GRCh37]
ChrX:153245511..153287214 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_006013.4(RPL10):c.291C>T (p.Ile97=) single nucleotide variant History of neurodevelopmental disorder [RCV000718360]|not provided [RCV000153857] ChrX:154399903 [GRCh38]
ChrX:153628244 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_006013.4(RPL10):c.639C>G (p.His213Gln) single nucleotide variant not provided [RCV000179911] ChrX:154400848 [GRCh38]
ChrX:153629189 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_006013.4(RPL10):c.8G>A (p.Arg3His) single nucleotide variant not provided [RCV000498157] ChrX:154398527 [GRCh38]
ChrX:153626868 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 copy number gain See cases [RCV000511851] ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
NM_001256577.2(RPL10):c.330-87G>A single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV000494718] ChrX:154400615 [GRCh38]
ChrX:153628956 [GRCh37]
ChrX:Xq28
pathogenic
NM_006013.4(RPL10):c.191C>T (p.Ala64Val) single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV000494719] ChrX:154399803 [GRCh38]
ChrX:153628144 [GRCh37]
ChrX:Xq28
pathogenic
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV000494720] ChrX:154399844 [GRCh38]
ChrX:153628185 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_006013.4(RPL10):c.492+4T>A single nucleotide variant not provided [RCV000514973] ChrX:154400630 [GRCh38]
ChrX:153628971 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV000708327] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
pathogenic
NM_006013.4(RPL10):c.264G>A (p.Arg88=) single nucleotide variant History of neurodevelopmental disorder [RCV000718213] ChrX:154399876 [GRCh38]
ChrX:153628217 [GRCh37]
ChrX:Xq28
likely benign
NM_006013.4(RPL10):c.633C>T (p.Ala211=) single nucleotide variant History of neurodevelopmental disorder [RCV000719596]|not provided [RCV000912214] ChrX:154400842 [GRCh38]
ChrX:153629183 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153609141-153626892)x2 copy number gain not provided [RCV000753935] ChrX:153609141..153626892 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153609141-153627145)x2 copy number gain not provided [RCV000753936] ChrX:153609141..153627145 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_006013.5(RPL10):c.605G>A (p.Ser202Asn) single nucleotide variant not provided [RCV000948166] ChrX:154400814 [GRCh38]
ChrX:153629155 [GRCh37]
ChrX:Xq28
benign
NM_006013.5(RPL10):c.330-7A>G single nucleotide variant not provided [RCV000943194] ChrX:154400457 [GRCh38]
ChrX:153628798 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_006013.5(RPL10):c.24-10T>C single nucleotide variant not provided [RCV000938546] ChrX:154399328 [GRCh38]
ChrX:153627669 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153577207)_(153650075_?)dup duplication Periventricular nodular heterotopia 1 [RCV000816614] ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_006013.5(RPL10):c.630G>A (p.Arg210=) single nucleotide variant not provided [RCV000915401] ChrX:154400839 [GRCh38]
ChrX:153629180 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 copy number gain not provided [RCV000847428] ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153577207)_(153642537_?)dup duplication Periventricular nodular heterotopia 1 [RCV001031667] ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_006013.5(RPL10):c.-4C>T single nucleotide variant not provided [RCV000996070] ChrX:154398516 [GRCh38]
ChrX:153626857 [GRCh37]
ChrX:Xq28
uncertain significance
NM_006013.5(RPL10):c.251G>A (p.Gly84Asp) single nucleotide variant not provided [RCV000996071] ChrX:154399863 [GRCh38]
ChrX:153628204 [GRCh37]
ChrX:Xq28
uncertain significance
NM_006013.5(RPL10):c.236G>C (p.Ser79Thr) single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV001198026] ChrX:154399848 [GRCh38]
ChrX:153628189 [GRCh37]
ChrX:Xq28
uncertain significance
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp) single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV001009624] ChrX:154400774 [GRCh38]
ChrX:153629115 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_006013.5(RPL10):c.578A>G (p.Asp193Gly) single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV001254603] ChrX:154400787 [GRCh38]
ChrX:153629128 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV001313748] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_006013.5(RPL10):c.479C>G (p.Pro160Arg) single nucleotide variant Inborn genetic diseases [RCV001266758] ChrX:154400613 [GRCh38]
ChrX:153628954 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_006013.5(RPL10):c.347G>A (p.Arg116Gln) single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV001333474] ChrX:154400481 [GRCh38]
ChrX:153628822 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_006013.5(RPL10):c.191-5C>T single nucleotide variant MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 [RCV001329520] ChrX:154399798 [GRCh38]
ChrX:153628139 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10298 AgrOrtholog
COSMIC RPL10 COSMIC
Ensembl Genes ENSG00000147403 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341730 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358832 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385621 UniProtKB/TrEMBL
  ENSP00000388600 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000395025 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000398047 UniProtKB/TrEMBL
  ENSP00000405064 UniProtKB/TrEMBL
  ENSP00000406125 UniProtKB/TrEMBL
  ENSP00000407754 UniProtKB/TrEMBL
Ensembl Transcript ENST00000344746 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369817 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406022 UniProtKB/TrEMBL
  ENST00000427682 UniProtKB/TrEMBL
  ENST00000428169 UniProtKB/TrEMBL
  ENST00000436473 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000449494 UniProtKB/TrEMBL
  ENST00000451365 UniProtKB/TrEMBL
  ENST00000458500 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.90.1170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147403 GTEx
HGNC ID HGNC:10298 ENTREZGENE
Human Proteome Map RPL10 Human Proteome Map
InterPro Ribosomal_L10e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L10e/L16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L10e/L16_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L10e_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6134 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6134 ENTREZGENE
OMIM 300847 OMIM
  300998 OMIM
  312173 OMIM
PANTHER PTHR11726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_L16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34660 PharmGKB
PIRSF Ribosomal_L10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RIBOSOMAL_L10E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54686 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs uL16_euk_arch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WV22 ENTREZGENE
  A6QRI9_HUMAN UniProtKB/TrEMBL
  B8A6G2_HUMAN UniProtKB/TrEMBL
  F8W7C6_HUMAN UniProtKB/TrEMBL
  H7C123_HUMAN UniProtKB/TrEMBL
  H7C2C5_HUMAN UniProtKB/TrEMBL
  H7C2U2_HUMAN UniProtKB/TrEMBL
  P27635 ENTREZGENE
  Q9GZW2_HUMAN UniProtKB/TrEMBL
  RL10_HUMAN UniProtKB/Swiss-Prot
  X1WI28_HUMAN UniProtKB/TrEMBL
  X5D2T3 ENTREZGENE, UniProtKB/TrEMBL
  X5D2W5_HUMAN UniProtKB/TrEMBL
  X5D7P1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A3KQT0 UniProtKB/Swiss-Prot
  D3DWW6 UniProtKB/Swiss-Prot
  Q16470 UniProtKB/Swiss-Prot
  Q2HXT7 UniProtKB/Swiss-Prot
  Q53FH7 UniProtKB/Swiss-Prot
  Q6FGN8 UniProtKB/Swiss-Prot
  Q8TDA5 UniProtKB/Swiss-Prot