FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1) - Rat Genome Database

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Gene: FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1) Homo sapiens
Analyze
Symbol: FTSJ1
Name: FtsJ RNA 2'-O-methyltransferase 1
RGD ID: 1345273
HGNC Page HGNC
Description: Exhibits tRNA (cytosine-2'-O-)-methyltransferase activity and tRNA (guanosine-2'-O-)-methyltransferase activity. Predicted to be involved in cytoplasmic translation and tRNA methylation. Predicted to localize to cytoplasm. Implicated in non-syndromic X-linked intellectual disability 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2'-O-ribose RNA methyltransferase TRM7 homolog; CDLIV; cell division protein; FtsJ homolog 1; FtsJ RNA methyltransferase homolog 1; FtsJ RNA methyltransferase homolog 1 (E. coli); FtsJ-like protein 1; JM23; mental retardation, X-linked 44; mental retardation, X-linked 9; MRX44; MRX9; putative ribosomal RNA methyltransferase 1; putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; rRNA (uridine-2'-O-)-methyltransferase; SPB1; TRM7; TRMT7; tRNA methyltransferase 7 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,476,021 - 48,486,364 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,476,021 - 48,486,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,334,409 - 48,344,752 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,219,493 - 48,229,696 (+)NCBINCBI36hg18NCBI36
Build 34X48,090,802 - 48,101,006NCBI
CeleraX53,320,980 - 53,331,186 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,998,280 - 46,007,952 (+)NCBIHuRef
CHM1_1X48,365,666 - 48,376,012 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1605216   PMID:8288232   PMID:10398246   PMID:10648622   PMID:12477932   PMID:12801724   PMID:14702039   PMID:15162322   PMID:15342698   PMID:15489334   PMID:15772651   PMID:16344560  
PMID:17207965   PMID:17333282   PMID:18081026   PMID:18401546   PMID:19012053   PMID:19615732   PMID:20613765   PMID:20662849   PMID:21145461   PMID:21832049   PMID:21873635   PMID:25404562  
PMID:25544563   PMID:26310293   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26871637   PMID:28380382   PMID:28514442   PMID:28986522   PMID:29499938   PMID:30194290   PMID:30557699  
PMID:30833792   PMID:31048545   PMID:31091453   PMID:31586073   PMID:32203420   PMID:32296183   PMID:32393790  


Genomics

Comparative Map Data
FTSJ1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,476,021 - 48,486,364 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,476,021 - 48,486,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,334,409 - 48,344,752 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,219,493 - 48,229,696 (+)NCBINCBI36hg18NCBI36
Build 34X48,090,802 - 48,101,006NCBI
CeleraX53,320,980 - 53,331,186 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,998,280 - 46,007,952 (+)NCBIHuRef
CHM1_1X48,365,666 - 48,376,012 (+)NCBICHM1_1
Ftsj1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X8,104,907 - 8,118,645 (-)NCBIGRCm39mm39
GRCm39 EnsemblX8,104,907 - 8,118,645 (-)Ensembl
GRCm38X8,238,668 - 8,252,406 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX8,238,668 - 8,252,406 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,815,794 - 7,829,532 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X7,395,627 - 7,409,365 (-)NCBImm8
CeleraX3,217,509 - 3,231,274 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.73NCBI
Ftsj1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,243,684 - 14,256,555 (+)NCBI
Rnor_6.0 EnsemblX14,994,016 - 15,002,074 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X14,993,685 - 15,006,010 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,777,547 - 15,796,124 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,275,183 - 26,282,960 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,329,203 - 14,341,462 (+)NCBICelera
Cytogenetic MapXq12NCBI
Ftsj1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495554340,728 - 53,111 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495554342,524 - 49,835 (+)NCBIChiLan1.0ChiLan1.0
FTSJ1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,638,454 - 48,648,779 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,638,454 - 48,648,779 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,774,056 - 40,784,290 (+)NCBIMhudiblu_PPA_v0panPan3
FTSJ1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,725,101 - 41,734,533 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,725,130 - 41,734,378 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,101,306 - 16,110,740 (+)NCBI
ROS_Cfam_1.0X41,861,225 - 41,870,660 (+)NCBI
UMICH_Zoey_3.1X41,848,179 - 41,857,613 (+)NCBI
UNSW_CanFamBas_1.0X41,836,459 - 41,845,894 (+)NCBI
UU_Cfam_GSD_1.0X41,930,031 - 41,939,465 (+)NCBI
Ftsj1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,213,322 - 34,226,036 (+)NCBI
SpeTri2.0NW_004936721453,789 - 466,425 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FTSJ1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,609,771 - 42,620,288 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,609,560 - 42,620,198 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,678,181 - 47,683,254 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FTSJ1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,606,922 - 45,617,172 (+)NCBI
ChlSab1.1 EnsemblX45,606,948 - 45,617,212 (+)Ensembl
Vero_WHO_p1.0NW_02366607611,047,478 - 11,068,760 (+)NCBI
Ftsj1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893297,312 - 308,772 (+)NCBI

Position Markers
WI-13354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,344,585 - 48,344,709UniSTSGRCh37
Build 36X48,229,529 - 48,229,653RGDNCBI36
CeleraX53,321,023 - 53,321,147RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,007,785 - 46,007,909UniSTS
GeneMap99-GB4 RH MapX142.51UniSTS
Whitehead-RH MapX73.4UniSTS
NCBI RH MapX197.4UniSTS
WI-13805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,341,180 - 48,341,329UniSTSGRCh37
Build 36X48,226,124 - 48,226,273RGDNCBI36
CeleraX53,324,406 - 53,324,555RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,005,429 - 46,005,578UniSTS
GeneMap99-GB4 RH MapX142.51UniSTS
Whitehead-RH MapX73.4UniSTS
NCBI RH MapX197.4UniSTS
G30997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,344,467 - 48,344,616UniSTSGRCh37
Build 36X48,229,411 - 48,229,560RGDNCBI36
CeleraX53,321,116 - 53,321,265RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,007,667 - 46,007,816UniSTS
FTSJ1__6761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,344,128 - 48,344,745UniSTSGRCh37
Build 36X48,229,072 - 48,229,689RGDNCBI36
CeleraX53,320,987 - 53,321,604RGD
HuRefX46,007,328 - 46,007,945UniSTS
DXS9853E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,344,348 - 48,344,524UniSTSGRCh37
Build 36X48,229,292 - 48,229,468RGDNCBI36
CeleraX53,321,208 - 53,321,384RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,007,548 - 46,007,724UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3215
Count of miRNA genes:1040
Interacting mature miRNAs:1223
Transcripts:ENST00000019019, ENST00000348411, ENST00000396894, ENST00000456787, ENST00000466371, ENST00000467954, ENST00000473235, ENST00000475806, ENST00000485486, ENST00000487353, ENST00000489599, ENST00000490202, ENST00000492562, ENST00000496365
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
Medium 2306 1873 1467 373 1400 215 3933 1373 2741 347 1445 1605 171 1201 2366 3
Low 129 1116 259 251 551 250 422 822 984 72 11 4 3 1 3 422 1 2
Below cutoff 2 9 4 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF063015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB049661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000019019   ⟹   ENSP00000019019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,161 - 48,486,299 (+)Ensembl
RefSeq Acc Id: ENST00000348411   ⟹   ENSP00000326948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,199 - 48,486,350 (+)Ensembl
RefSeq Acc Id: ENST00000396894   ⟹   ENSP00000380103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,021 - 48,486,364 (+)Ensembl
RefSeq Acc Id: ENST00000466371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,481,165 - 48,482,954 (+)Ensembl
RefSeq Acc Id: ENST00000467954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,481,426 - 48,485,816 (+)Ensembl
RefSeq Acc Id: ENST00000473235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,218 - 48,482,604 (+)Ensembl
RefSeq Acc Id: ENST00000475806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,481,482 - 48,482,954 (+)Ensembl
RefSeq Acc Id: ENST00000485486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,203 - 48,479,070 (+)Ensembl
RefSeq Acc Id: ENST00000487353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,260 - 48,479,116 (+)Ensembl
RefSeq Acc Id: ENST00000489599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,481,632 - 48,485,984 (+)Ensembl
RefSeq Acc Id: ENST00000490202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,478,681 - 48,482,954 (+)Ensembl
RefSeq Acc Id: ENST00000492562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,476,153 - 48,482,484 (+)Ensembl
RefSeq Acc Id: ENST00000496365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,479,038 - 48,486,311 (+)Ensembl
RefSeq Acc Id: NM_001282157   ⟹   NP_001269086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,021 - 48,486,364 (+)NCBI
HuRefX45,998,280 - 46,007,952 (+)NCBI
CHM1_1X48,365,666 - 48,376,012 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012280   ⟹   NP_036412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,199 - 48,486,350 (+)NCBI
GRCh37X48,334,454 - 48,344,752 (+)NCBI
Build 36X48,219,493 - 48,229,696 (+)NCBI Archive
HuRefX45,998,280 - 46,007,952 (+)ENTREZGENE
CHM1_1X48,365,666 - 48,376,012 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177439   ⟹   NP_803188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,199 - 48,486,350 (+)NCBI
GRCh37X48,334,454 - 48,344,752 (+)NCBI
Build 36X48,219,493 - 48,229,696 (+)NCBI Archive
HuRefX45,998,280 - 46,007,952 (+)ENTREZGENE
CHM1_1X48,365,666 - 48,376,012 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272595   ⟹   XP_005272652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,170 - 48,486,345 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452359   ⟹   XP_024308127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,176 - 48,486,345 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958767
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,170 - 48,486,305 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958768
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,176 - 48,486,345 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958769
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,170 - 48,486,305 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958770
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,176 - 48,486,345 (+)NCBI
Sequence:
RefSeq Acc Id: XR_949015
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,170 - 48,486,345 (+)NCBI
Sequence:
RefSeq Acc Id: XR_949016
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,170 - 48,486,345 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_803188   ⟸   NM_177439
- Peptide Label: isoform b
- UniProtKB: Q9UET6 (UniProtKB/Swiss-Prot),   B3KN91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_036412   ⟸   NM_012280
- Peptide Label: isoform a
- UniProtKB: Q9UET6 (UniProtKB/Swiss-Prot),   A0A024QYX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272652   ⟸   XM_005272595
- Peptide Label: isoform X2
- UniProtKB: Q9UET6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269086   ⟸   NM_001282157
- Peptide Label: isoform c
- UniProtKB: Q9UET6 (UniProtKB/Swiss-Prot),   B7Z4K4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308127   ⟸   XM_024452359
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000019019   ⟸   ENST00000019019
RefSeq Acc Id: ENSP00000326948   ⟸   ENST00000348411
RefSeq Acc Id: ENSP00000380103   ⟸   ENST00000396894
Promoters
RGD ID:6808862
Promoter ID:HG_KWN:66670
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012280,   NM_177439,   OTTHUMT00000060730,   OTTHUMT00000060731,   OTTHUMT00000060733,   OTTHUMT00000060734,   UC004DJL.1,   UC004DJM.1,   UC004DJP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,219,149 - 48,219,649 (+)MPROMDB
RGD ID:6851154
Promoter ID:EP73374
Type:initiation region
Name:HS_FTSJ1
Description:FtsJ homolog 1 (E. coli).
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 36X48,219,531 - 48,219,591EPD
RGD ID:6808861
Promoter ID:HG_KWN:66671
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_177434
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,220,421 - 48,220,987 (+)MPROMDB
RGD ID:6808860
Promoter ID:HG_KWN:66672
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3
Transcripts:OTTHUMT00000060728,   OTTHUMT00000060732
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,221,096 - 48,221,822 (+)MPROMDB
RGD ID:6808864
Promoter ID:HG_KWN:66673
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:OTTHUMT00000060729,   OTTHUMT00000060735,   OTTHUMT00000060736,   OTTHUMT00000060737
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,224,429 - 48,224,929 (+)MPROMDB
RGD ID:13605214
Promoter ID:EPDNEW_H28791
Type:initiation region
Name:FTSJ1_1
Description:FtsJ RNA methyltransferase homolog 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,476,203 - 48,476,263EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
FTSJ1, EX9DEL deletion Mental retardation 9, X-linked [RCV000011641] ChrX:Xp11.23 pathogenic
NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) single nucleotide variant Mental retardation 9, X-linked [RCV000011642] ChrX:48478621 [GRCh38]
ChrX:48337009 [GRCh37]
ChrX:Xp11.23
pathogenic
FTSJ1, IVS2, G DEL, +1 deletion Mental retardation 9, X-linked [RCV000011643] ChrX:Xp11.23 pathogenic
NM_012280.4(FTSJ1):c.192-2A>G single nucleotide variant Mental retardation 9, X-linked [RCV000011644] ChrX:48478615 [GRCh38]
ChrX:48337003 [GRCh37]
ChrX:Xp11.23
pathogenic
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 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:10679-156013167)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:10679-156022206)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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_012280.4(FTSJ1):c.572-8C>T single nucleotide variant not specified [RCV000117102] ChrX:48481624 [GRCh38]
ChrX:48340012 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.762A>G (p.Leu254=) single nucleotide variant not provided [RCV000117103] ChrX:48482599 [GRCh38]
ChrX:48340987 [GRCh37]
ChrX:Xp11.23
conflicting interpretations of pathogenicity|uncertain significance
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=) single nucleotide variant History of neurodevelopmental disorder [RCV000717798]|not provided [RCV000961795]|not specified [RCV000117104] ChrX:48481452 [GRCh38]
ChrX:48339840 [GRCh37]
ChrX:Xp11.23
benign|likely benign
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
NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn) single nucleotide variant Inborn genetic diseases [RCV000190669] ChrX:48478081 [GRCh38]
ChrX:48336469 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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)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: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: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 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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp11.23(chrX:48476762-48477781)x2 copy number gain See cases [RCV000139810] ChrX:48476762..48477781 [GRCh38]
ChrX:48220094..48221113 [NCBI36]
ChrX:Xp11.23
likely benign
GRCh38/hg38 Xp11.23(chrX:48476537-48477781)x3 copy number gain See cases [RCV000139736] ChrX:48476537..48477781 [GRCh38]
ChrX:48219869..48221113 [NCBI36]
ChrX:Xp11.23
likely benign
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 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_012280.4(FTSJ1):c.270G>T (p.Gly90=) single nucleotide variant History of neurodevelopmental disorder [RCV000717791]|not provided [RCV000904135]|not specified [RCV000178288] ChrX:48478695 [GRCh38]
ChrX:48337083 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.468G>A (p.Lys156=) single nucleotide variant not provided [RCV000179932] ChrX:48481342 [GRCh38]
ChrX:48339730 [GRCh37]
ChrX:Xp11.23
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 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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
NM_012280.4(FTSJ1):c.600C>A (p.Asp200Glu) single nucleotide variant not specified [RCV000603865] ChrX:48481660 [GRCh38]
ChrX:48340048 [GRCh37]
ChrX:Xp11.23
likely benign
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 Xp11.23(chrX:48336513-48554390)x2 copy number gain See cases [RCV000240388] ChrX:48336513..48554390 [GRCh37]
ChrX:Xp11.23
uncertain significance
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
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000718612]|not provided [RCV000514566] ChrX:48479062 [GRCh38]
ChrX:48337450 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_012280.4(FTSJ1):c.187A>G (p.Ile63Val) single nucleotide variant Inborn genetic diseases [RCV000623516] ChrX:48478514 [GRCh38]
ChrX:48336902 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48300928-48578333)x3 copy number gain See cases [RCV000447325] ChrX:48300928..48578333 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_012280.4(FTSJ1):c.742C>T (p.Arg248Cys) single nucleotide variant Mental retardation 9, X-linked [RCV000496850] ChrX:48482489 [GRCh38]
ChrX:48340877 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
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 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_012280.4(FTSJ1):c.656-6C>G single nucleotide variant not provided [RCV000514065] ChrX:48482397 [GRCh38]
ChrX:48340785 [GRCh37]
ChrX:Xp11.23
likely benign
NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr) single nucleotide variant Inborn genetic diseases [RCV000623437] ChrX:48478488 [GRCh38]
ChrX:48336876 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_012280.4(FTSJ1):c.738G>A (p.Ser246=) single nucleotide variant History of neurodevelopmental disorder [RCV000717201]|not provided [RCV000909853] ChrX:48482485 [GRCh38]
ChrX:48340873 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000718283] ChrX:48478630 [GRCh38]
ChrX:48337018 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_012280.4(FTSJ1):c.409C>T (p.Leu137=) single nucleotide variant History of neurodevelopmental disorder [RCV000719667]|not provided [RCV000918672] ChrX:48481198 [GRCh38]
ChrX:48339586 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.893G>A (p.Ser298Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000721019]|not provided [RCV000926810] ChrX:48482730 [GRCh38]
ChrX:48341118 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.580G>A (p.Ala194Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719470] ChrX:48481640 [GRCh38]
ChrX:48340028 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48335335-48339840)x2 copy number gain not provided [RCV000753538] ChrX:48335335..48339840 [GRCh37]
ChrX:Xp11.23
benign
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: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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_012280.4(FTSJ1):c.877dup (p.Gln293fs) duplication not provided [RCV000762631] ChrX:48482709..48482710 [GRCh38]
ChrX:48341097..48341098 [GRCh37]
ChrX:Xp11.23
likely pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_012280.4(FTSJ1):c.329C>T (p.Ala110Val) single nucleotide variant not provided [RCV001091015] ChrX:48479084 [GRCh38]
ChrX:48337472 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_012280.4(FTSJ1):c.872G>A (p.Arg291His) single nucleotide variant not provided [RCV000923075] ChrX:48482709 [GRCh38]
ChrX:48341097 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.303C>T (p.Ile101=) single nucleotide variant not provided [RCV000928150] ChrX:48479058 [GRCh38]
ChrX:48337446 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.483G>A (p.Arg161=) single nucleotide variant not provided [RCV000901995] ChrX:48481440 [GRCh38]
ChrX:48339828 [GRCh37]
ChrX:Xp11.23
likely benign
NM_012280.4(FTSJ1):c.190G>A (p.Gly64Arg) single nucleotide variant not provided [RCV000924849] ChrX:48478517 [GRCh38]
ChrX:48336905 [GRCh37]
ChrX:Xp11.23
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_012280.4(FTSJ1):c.304A>T (p.Ile102Phe) single nucleotide variant not provided [RCV000901237] ChrX:48479059 [GRCh38]
ChrX:48337447 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.469-7C>T single nucleotide variant not provided [RCV000879522] ChrX:48481419 [GRCh38]
ChrX:48339807 [GRCh37]
ChrX:Xp11.23
likely benign
NM_012280.4(FTSJ1):c.654C>T (p.Tyr218=) single nucleotide variant not provided [RCV000897514] ChrX:48481714 [GRCh38]
ChrX:48340102 [GRCh37]
ChrX:Xp11.23
benign
NM_012280.4(FTSJ1):c.121+9C>G single nucleotide variant not provided [RCV000897340] ChrX:48478177 [GRCh38]
ChrX:48336565 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_012280.4(FTSJ1):c.*8C>T single nucleotide variant Intellectual disability [RCV001251769] ChrX:48483026 [GRCh38]
ChrX:48341414 [GRCh37]
ChrX:Xp11.23
likely benign
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:48182541-48630992)x3 copy number gain not provided [RCV000848540] ChrX:48182541..48630992 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_012280.4(FTSJ1):c.861C>G (p.Ala287=) single nucleotide variant not provided [RCV000915213] ChrX:48482698 [GRCh38]
ChrX:48341086 [GRCh37]
ChrX:Xp11.23
likely benign
NM_012280.4(FTSJ1):c.273C>T (p.Asp91=) single nucleotide variant not provided [RCV000926576] ChrX:48478698 [GRCh38]
ChrX:48337086 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_012280.4(FTSJ1):c.769G>A (p.Gly257Ser) single nucleotide variant not provided [RCV001171550] ChrX:48482606 [GRCh38]
ChrX:48340994 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_012280.4(FTSJ1):c.325C>T (p.Pro109Ser) single nucleotide variant not provided [RCV001035812] ChrX:48479080 [GRCh38]
ChrX:48337468 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:48237630-48590047)x2 copy number gain not provided [RCV001007302] ChrX:48237630..48590047 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_012280.4(FTSJ1):c.256del (p.Val86fs) deletion Mental retardation 9, X-linked [RCV001251770] ChrX:48478680 [GRCh38]
ChrX:48337068 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_012280.4(FTSJ1):c.469-33_469-14del deletion Intellectual disability [RCV001260766] ChrX:48481393..48481412 [GRCh38]
ChrX:48339781..48339800 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1 copy number loss not provided [RCV001258949] ChrX:48225025..48601326 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_012280.4(FTSJ1):c.362-2A>T single nucleotide variant Intellectual disability [RCV001260765] ChrX:48481149 [GRCh38]
ChrX:48339537 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13254 AgrOrtholog
COSMIC FTSJ1 COSMIC
Ensembl Genes ENSG00000068438 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000019019 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000326948 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380103 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000019019 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000348411 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396894 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000068438 GTEx
HGNC ID HGNC:13254 ENTREZGENE
Human Proteome Map FTSJ1 Human Proteome Map
InterPro Mononega_L_MeTrfase UniProtKB/TrEMBL
  RNA_methyltr_E_Trm7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  rRNA-MeTfrase_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  rRNA_MeTrfase_FtsJ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:24140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 24140 ENTREZGENE
OMIM 300499 OMIM
  309549 OMIM
PANTHER PTHR10920:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FtsJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28417 PharmGKB
PROSITE SAM_MT_MNV_L UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QYX5 ENTREZGENE, UniProtKB/TrEMBL
  B3KN91 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4K4 ENTREZGENE, UniProtKB/TrEMBL
  Q9UET6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RCJ0 UniProtKB/Swiss-Prot
  O75670 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 FTSJ1  FtsJ RNA 2'-O-methyltransferase 1    FtsJ RNA methyltransferase homolog 1  Symbol and/or name change 5135510 APPROVED
2017-08-15 FTSJ1  FtsJ RNA methyltransferase homolog 1    FtsJ RNA methyltransferase homolog 1 (E. coli)  Symbol and/or name change 5135510 APPROVED
2016-03-30 FTSJ1  FtsJ RNA methyltransferase homolog 1 (E. coli)  MRX9  mental retardation, X-linked 9  Data Merged 737654 PROVISIONAL
2016-03-25 FTSJ1  FtsJ RNA methyltransferase homolog 1 (E. coli)  MRX44  mental retardation, X-linked 44  Data Merged 737654 PROVISIONAL
2012-06-19 FTSJ1  FtsJ RNA methyltransferase homolog 1 (E. coli)  FTSJ1  FtsJ homolog 1 (E. coli)  Symbol and/or name change 5135510 APPROVED
2011-08-17 FTSJ1  FtsJ homolog 1 (E. coli)  FTSJ1  FtsJ homolog 1 (E. coli)  Symbol and/or name change 5135510 APPROVED