FRMPD4 (FERM and PDZ domain containing 4) - Rat Genome Database

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Gene: FRMPD4 (FERM and PDZ domain containing 4) Homo sapiens
Analyze
Symbol: FRMPD4
Name: FERM and PDZ domain containing 4
RGD ID: 1353602
HGNC Page HGNC
Description: Exhibits phosphatidylinositol-4,5-bisphosphate binding activity. Involved in positive regulation of synapse structural plasticity. Localizes to dendritic spine and protein-containing complex. Implicated in non-syndromic X-linked intellectual disability 104.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FERM and PDZ domain-containing protein 4; KIAA0316; MGC142260; MGC142262; MRX104; PDZ domain containing 10; PDZ domain-containing protein 10; PDZD10; PDZK10; Preso; PSD-95-interacting FERM and PDZ domain protein; PSD-95-interacting regulator of spine morphogenesis
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 EnsemblX11,822,423 - 12,724,523 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,822,439 - 12,724,523 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,840,558 - 12,742,642 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X12,066,506 - 12,650,450 (+)NCBINCBI36hg18NCBI36
CeleraX16,274,012 - 16,856,608 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,927,416 - 10,509,157 (+)NCBIHuRef
CHM1_1X12,187,174 - 12,773,028 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormality of the pinna  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad nasal tip  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Delayed ability to walk  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial palsy  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Meckel diverticulum  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic atrophy  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor eye contact  (IAGP)
Poor speech  (IAGP)
Pyloric stenosis  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Urinary incontinence  (IAGP)
Wide nasal bridge  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9205841   PMID:12421765   PMID:12477932   PMID:19118189   PMID:19913121   PMID:20628086   PMID:21873635   PMID:22074847   PMID:22321011   PMID:24550280   PMID:25664792   PMID:25798074  
PMID:26555035   PMID:29267967   PMID:30126976   PMID:33216857  


Genomics

Comparative Map Data
FRMPD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,822,423 - 12,724,523 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,822,439 - 12,724,523 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,840,558 - 12,742,642 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X12,066,506 - 12,650,450 (+)NCBINCBI36hg18NCBI36
CeleraX16,274,012 - 16,856,608 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,927,416 - 10,509,157 (+)NCBIHuRef
CHM1_1X12,187,174 - 12,773,028 (+)NCBICHM1_1
Frmpd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X166,254,297 - 167,360,230 (-)NCBIGRCm39mm39
GRCm39 EnsemblX166,254,305 - 167,360,227 (-)Ensembl
GRCm38X167,471,306 - 168,577,241 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX167,471,309 - 168,577,231 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X163,909,241 - 165,015,165 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X162,815,414 - 163,921,338 (-)NCBImm8
CeleraX150,648,006 - 151,744,590 (-)NCBICelera
Cytogenetic MapXF5NCBI
Frmpd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X25,853,849 - 26,814,642 (+)NCBI
Rnor_6.0 EnsemblX28,072,826 - 28,204,260 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X27,231,648 - 28,206,890 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X27,955,922 - 28,600,017 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X47,683,734 - 47,814,085 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX27,055,940 - 27,185,801 (+)NCBICelera
Cytogenetic MapXq13NCBI
Frmpd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955544584,686 - 1,151,938 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955544586,991 - 1,152,195 (-)NCBIChiLan1.0ChiLan1.0
FRMPD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X12,399,567 - 12,624,370 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX12,399,479 - 12,622,978 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X4,450,486 - 5,336,784 (+)NCBIMhudiblu_PPA_v0panPan3
FRMPD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X8,663,015 - 9,229,269 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX8,664,739 - 9,226,025 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX8,619,305 - 9,185,368 (+)NCBI
ROS_Cfam_1.0X8,616,367 - 9,181,282 (+)NCBI
UMICH_Zoey_3.1X8,599,446 - 9,165,435 (+)NCBI
UNSW_CanFamBas_1.0X8,635,573 - 9,205,459 (+)NCBI
UU_Cfam_GSD_1.0X8,631,669 - 9,197,726 (+)NCBI
Frmpd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X1,690,540 - 2,469,067 (+)NCBI
SpeTri2.0NW_0049364701,923,328 - 2,469,067 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FRMPD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX8,873,119 - 9,438,354 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X8,625,039 - 9,451,433 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X10,224,041 - 10,300,128 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FRMPD4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X10,364,458 - 11,213,356 (+)NCBI
ChlSab1.1 EnsemblX10,996,515 - 11,214,725 (+)Ensembl
Frmpd4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248821,554,597 - 2,152,481 (-)NCBI

Position Markers
DXS7104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,154,977 - 12,155,153UniSTSGRCh37
Build 36X12,064,898 - 12,065,074RGDNCBI36
CeleraX16,272,402 - 16,272,580RGD
Cytogenetic MapXp22.2UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,925,806 - 9,925,984UniSTS
Marshfield Genetic MapX20.27RGD
Marshfield Genetic MapX20.27UniSTS
Genethon Genetic MapX19.4UniSTS
deCODE Assembly MapX22.02UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS6723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,637,339 - 12,637,543UniSTSGRCh37
Build 36X12,547,260 - 12,547,464RGDNCBI36
CeleraX16,751,845 - 16,752,049RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,405,753 - 10,405,957UniSTS
Whitehead-YAC Contig MapX UniSTS
STS-Z41089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,742,450 - 12,742,509UniSTSGRCh37
Build 36X12,652,371 - 12,652,430RGDNCBI36
CeleraX16,856,416 - 16,856,475RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,508,965 - 10,509,024UniSTS
GeneMap99-GB4 RH MapX85.4UniSTS
NCBI RH MapX10.0UniSTS
DXS7562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,175,049 - 12,175,121UniSTSGRCh37
Build 36X12,084,970 - 12,085,042RGDNCBI36
CeleraX16,292,477 - 16,292,549RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,945,840 - 9,945,912UniSTS
DXS1434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,636,370 - 12,636,485UniSTSGRCh37
Build 36X12,546,291 - 12,546,406RGDNCBI36
CeleraX16,750,876 - 16,750,991RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,404,784 - 10,404,899UniSTS
DXS1444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,191,635 - 12,191,695UniSTSGRCh37
Build 36X12,101,556 - 12,101,616RGDNCBI36
CeleraX16,309,068 - 16,309,128RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,963,577 - 9,963,637UniSTS
G63266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,432,571 - 12,432,899UniSTSGRCh37
Build 36X12,342,492 - 12,342,820RGDNCBI36
CeleraX16,546,763 - 16,547,091RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,202,043 - 10,202,371UniSTS
TNG Radiation Hybrid MapX2933.0UniSTS
SHGC-111221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,540,147 - 12,540,481UniSTSGRCh37
Build 36X12,450,068 - 12,450,402RGDNCBI36
CeleraX16,654,320 - 16,654,654RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,308,872 - 10,309,206UniSTS
TNG Radiation Hybrid MapX2964.0UniSTS
SHGC-111274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,387,424 - 12,387,739UniSTSGRCh37
Build 36X12,297,345 - 12,297,660RGDNCBI36
CeleraX16,501,300 - 16,501,615RGD
Cytogenetic MapXp22.2UniSTS
TNG Radiation Hybrid MapX2927.0UniSTS
SHGC-68548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,540,251 - 12,540,481UniSTSGRCh37
Build 36X12,450,172 - 12,450,402RGDNCBI36
CeleraX16,654,424 - 16,654,654RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,308,976 - 10,309,206UniSTS
TNG Radiation Hybrid MapX2964.0UniSTS
SHGC-152226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,155,010 - 12,155,301UniSTSGRCh37
GRCh37X12,155,022 - 12,155,301UniSTSGRCh37
Build 36X12,064,931 - 12,065,222RGDNCBI36
CeleraX16,272,461 - 16,272,728UniSTS
CeleraX16,272,439 - 16,272,728RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,925,843 - 9,926,132UniSTS
HuRefX9,925,865 - 9,926,132UniSTS
TNG Radiation Hybrid Map1310456.0UniSTS
DXS7005E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,223,026 - 12,223,199UniSTSGRCh37
Build 36X12,132,947 - 12,133,120RGDNCBI36
CeleraX16,340,448 - 16,340,621RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,994,918 - 9,995,091UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
SHGC-154904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,723,714 - 12,724,027UniSTSGRCh37
Build 36X12,633,635 - 12,633,948RGDNCBI36
CeleraX16,837,277 - 16,837,590RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,490,231 - 10,490,544UniSTS
TNG Radiation Hybrid MapX2987.0UniSTS
RH77767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,221,300 - 12,221,496UniSTSGRCh37
Build 36X12,131,221 - 12,131,417RGDNCBI36
CeleraX16,338,722 - 16,338,918RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,993,192 - 9,993,388UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
DXS7510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,476,966 - 12,477,203UniSTSGRCh37
Build 36X12,386,887 - 12,387,124RGDNCBI36
CeleraX16,591,116 - 16,591,353RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,246,186 - 10,246,423UniSTS
Whitehead-RH MapX9.3UniSTS
NCBI RH MapX10.0UniSTS
G18214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,645,569 - 12,645,713UniSTSGRCh37
Build 36X12,555,490 - 12,555,634RGDNCBI36
CeleraX16,758,891 - 16,759,035RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,412,698 - 10,412,842UniSTS
152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,175,049 - 12,175,121UniSTSGRCh37
Build 36X12,084,970 - 12,085,042RGDNCBI36
CeleraX16,292,477 - 16,292,549RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,945,840 - 9,945,912UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
DXS7753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,703,344 - 12,703,502UniSTSGRCh37
Build 36X12,613,265 - 12,613,423RGDNCBI36
CeleraX16,816,983 - 16,817,141RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,470,088 - 10,470,246UniSTS
REN32501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37674,066,035 - 74,066,279UniSTSGRCh37
GRCh37X12,603,645 - 12,603,889UniSTSGRCh37
Build 36X12,513,566 - 12,513,810RGDNCBI36
CeleraX16,718,116 - 16,718,360RGD
Celera674,460,573 - 74,460,817UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX10,372,705 - 10,372,949UniSTS
HuRef671,264,465 - 71,264,709UniSTS
DXS1006E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,174,938 - 12,175,114UniSTSGRCh37
Build 36X12,084,859 - 12,085,035RGDNCBI36
CeleraX16,292,366 - 16,292,542RGD
Cytogenetic MapXp22.2UniSTS
HuRefX9,945,729 - 9,945,905UniSTS
Stanford-G3 RH MapX816.0UniSTS
NCBI RH MapX8.8UniSTS
GeneMap99-G3 RH MapX0.0UniSTS
SHGC-36795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,742,483 - 12,742,601UniSTSGRCh37
Build 36X12,652,404 - 12,652,522RGDNCBI36
CeleraX16,856,449 - 16,856,567RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,508,998 - 10,509,116UniSTS
AF020095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,614,325 - 12,614,395UniSTSGRCh37
Build 36X12,524,246 - 12,524,316RGDNCBI36
CeleraX16,728,797 - 16,728,867RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,382,936 - 10,383,006UniSTS
DXS7727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,601,357 - 12,601,419UniSTSGRCh37
Build 36X12,511,278 - 12,511,340RGDNCBI36
CeleraX16,715,827 - 16,715,889RGD
Cytogenetic MapXp22.2UniSTS
DXS7740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,742,903 - 12,743,027UniSTSGRCh37
Build 36X12,652,824 - 12,652,948RGDNCBI36
CeleraX16,856,869 - 16,856,993RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,509,418 - 10,509,542UniSTS
RH47776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,430,823 - 12,431,000UniSTSGRCh37
Build 36X12,340,744 - 12,340,921RGDNCBI36
CeleraX16,545,015 - 16,545,192RGD
Cytogenetic MapXp22.2UniSTS
HuRefX10,200,298 - 10,200,475UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
PDZK10__5852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,739,957 - 12,740,546UniSTSGRCh37
Build 36X12,649,878 - 12,650,467RGDNCBI36
CeleraX16,853,923 - 16,854,512RGD
HuRefX10,506,472 - 10,507,061UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2358
Count of miRNA genes:1135
Interacting mature miRNAs:1385
Transcripts:ENST00000380682
Prediction methods:Miranda, Pita
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 adipose tissue appendage
High
Medium 1 3 2 3 2 1 308 1 6
Low 618 256 35 4 34 4 160 260 2120 46 254 82 4 35 16
Below cutoff 1604 2018 1116 291 804 155 3597 1837 1248 165 889 1141 141 1140 2371

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX089361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380682   ⟹   ENSP00000370057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,138,466 - 12,724,523 (+)Ensembl
RefSeq Acc Id: ENST00000616992   ⟹   ENSP00000482182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,498,673 - 12,724,514 (+)Ensembl
RefSeq Acc Id: ENST00000640291   ⟹   ENSP00000492353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,822,440 - 12,722,121 (+)Ensembl
RefSeq Acc Id: ENST00000656302   ⟹   ENSP00000499481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,822,423 - 12,722,185 (+)Ensembl
RefSeq Acc Id: ENST00000657176   ⟹   ENSP00000499417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,877,763 - 12,702,010 (+)Ensembl
RefSeq Acc Id: ENST00000657982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,378,354 - 12,722,229 (+)Ensembl
RefSeq Acc Id: ENST00000672010   ⟹   ENSP00000499962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,137,440 - 12,724,523 (+)Ensembl
RefSeq Acc Id: ENST00000672340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,494,965 - 12,704,365 (+)Ensembl
RefSeq Acc Id: ENST00000672861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,341,541 - 12,724,399 (+)Ensembl
RefSeq Acc Id: ENST00000672869   ⟹   ENSP00000500566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,498,672 - 12,724,514 (+)Ensembl
RefSeq Acc Id: ENST00000673271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,341,541 - 12,724,496 (+)Ensembl
RefSeq Acc Id: ENST00000675598   ⟹   ENSP00000502607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,138,473 - 12,724,523 (+)Ensembl
RefSeq Acc Id: NM_001368395   ⟹   NP_001355324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,822,439 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368396   ⟹   NP_001355325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,138,473 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368397   ⟹   NP_001355326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,138,473 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368398   ⟹   NP_001355327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,822,439 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368399   ⟹   NP_001355328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,137,415 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368400   ⟹   NP_001355329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,065,541 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368401   ⟹   NP_001355330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,138,473 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_001368402   ⟹   NP_001355331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,065,541 - 12,724,523 (+)NCBI
RefSeq Acc Id: NM_014728   ⟹   NP_055543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,138,466 - 12,724,523 (+)NCBI
GRCh37X12,156,585 - 12,742,642 (+)RGD
Build 36X12,066,506 - 12,650,450 (+)NCBI Archive
CeleraX16,274,012 - 16,856,608 (+)RGD
HuRefX9,927,416 - 10,509,157 (+)RGD
CHM1_1X12,187,174 - 12,773,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274632   ⟹   XP_005274689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,494,845 - 12,724,523 (+)NCBI
GRCh37X12,156,585 - 12,742,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029983   ⟹   XP_016885472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,137,329 - 12,724,523 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029984   ⟹   XP_016885473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,494,844 - 12,724,523 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029985   ⟹   XP_016885474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,494,847 - 12,724,523 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055543   ⟸   NM_014728
- Peptide Label: isoform e
- UniProtKB: Q14CM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274689   ⟸   XM_005274632
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885472   ⟸   XM_017029983
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885473   ⟸   XM_017029984
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885474   ⟸   XM_017029985
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001355327   ⟸   NM_001368398
- Peptide Label: isoform d
RefSeq Acc Id: NP_001355324   ⟸   NM_001368395
- Peptide Label: isoform a
RefSeq Acc Id: NP_001355331   ⟸   NM_001368402
- Peptide Label: isoform h
RefSeq Acc Id: NP_001355329   ⟸   NM_001368400
- Peptide Label: isoform g
RefSeq Acc Id: NP_001355328   ⟸   NM_001368399
- Peptide Label: isoform f
RefSeq Acc Id: NP_001355330   ⟸   NM_001368401
- Peptide Label: isoform h
RefSeq Acc Id: NP_001355326   ⟸   NM_001368397
- Peptide Label: isoform c
RefSeq Acc Id: NP_001355325   ⟸   NM_001368396
- Peptide Label: isoform b
RefSeq Acc Id: ENSP00000492353   ⟸   ENST00000640291
RefSeq Acc Id: ENSP00000482182   ⟸   ENST00000616992
RefSeq Acc Id: ENSP00000499481   ⟸   ENST00000656302
RefSeq Acc Id: ENSP00000499417   ⟸   ENST00000657176
RefSeq Acc Id: ENSP00000370057   ⟸   ENST00000380682
RefSeq Acc Id: ENSP00000499962   ⟸   ENST00000672010
RefSeq Acc Id: ENSP00000500566   ⟸   ENST00000672869
RefSeq Acc Id: ENSP00000502607   ⟸   ENST00000675598
Protein Domains
FERM   PDZ   WW

Promoters
RGD ID:13604740
Promoter ID:EPDNEW_H28554
Type:initiation region
Name:FRMPD4_2
Description:FERM and PDZ domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28555  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,137,636 - 12,137,696EPDNEW
RGD ID:13604742
Promoter ID:EPDNEW_H28555
Type:initiation region
Name:FRMPD4_1
Description:FERM and PDZ domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28554  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,138,479 - 12,138,539EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.10:g.11600773_12249902del649130 deletion Intellectual disability [RCV000656444] ChrX:11600773..12249902 [GRCh37]
ChrX:Xp22.2
likely 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
NM_014728.3(FRMPD4):c.41+133707C>G single nucleotide variant Lung cancer [RCV000102271] ChrX:12272719 [GRCh38]
ChrX:12290838 [GRCh37]
ChrX:Xp22.2
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 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 Xp22.2(chrX:11803888-12169218)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051383]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051383]|See cases [RCV000051383] ChrX:11803888..12169218 [GRCh38]
ChrX:11822007..12187337 [GRCh37]
ChrX:11731928..12097258 [NCBI36]
ChrX:Xp22.2
uncertain significance
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 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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 Xp22.33-11.21(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 Xp22.2(chrX:11658644-12174505)x2 copy number gain See cases [RCV000054142] ChrX:11658644..12174505 [GRCh38]
ChrX:11676764..12192624 [GRCh37]
ChrX:11586685..12102545 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2(chrX:12169159-12615106)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054143]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054143]|See cases [RCV000054143] ChrX:12169159..12615106 [GRCh38]
ChrX:12187278..12633225 [GRCh37]
ChrX:12097199..12543146 [NCBI36]
ChrX:Xp22.2
uncertain significance
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_014728.3(FRMPD4):c.3948G>A (p.Lys1316=) single nucleotide variant Malignant melanoma [RCV000073063] ChrX:12718774 [GRCh38]
ChrX:12736893 [GRCh37]
ChrX:12646814 [NCBI36]
ChrX:Xp22.2
not provided
NM_001368397.1(FRMPD4):c.3523G>A (p.Asp1175Asn) single nucleotide variant not provided [RCV000117101] ChrX:12718349 [GRCh38]
ChrX:12736468 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.1197+12C>G single nucleotide variant not specified [RCV000081647] ChrX:12704497 [GRCh38]
ChrX:12722616 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.3765C>T (p.Gly1255=) single nucleotide variant not provided [RCV000967597]|not specified [RCV000081648] ChrX:12718591 [GRCh38]
ChrX:12736710 [GRCh37]
ChrX:Xp22.2
benign
NM_014728.3(FRMPD4):c.42-10T>C single nucleotide variant not provided [RCV000081649] ChrX:12498670 [GRCh38]
ChrX:12516789 [GRCh37]
ChrX:Xp22.2
other|not provided
NM_001368397.1(FRMPD4):c.42-10del deletion not specified [RCV000081650] ChrX:12498659 [GRCh38]
ChrX:12516778 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=) single nucleotide variant not specified [RCV000117098] ChrX:12707582 [GRCh38]
ChrX:12725701 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001368397.1(FRMPD4):c.1470+9C>T single nucleotide variant not specified [RCV000117099] ChrX:12707660 [GRCh38]
ChrX:12725779 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=) single nucleotide variant not specified [RCV000117100] ChrX:12716466 [GRCh38]
ChrX:12734585 [GRCh37]
ChrX:Xp22.2
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_001368397.1(FRMPD4):c.42-10dup duplication not specified [RCV000175860] ChrX:12498658..12498659 [GRCh38]
ChrX:12516789 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu) single nucleotide variant Mental retardation, X-linked 104 [RCV001333087] ChrX:12716396 [GRCh38]
ChrX:12734515 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11541839-12655449)x3 copy number gain See cases [RCV000184087] ChrX:11541839..12655449 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe) single nucleotide variant Mental retardation, X-linked 104 [RCV001333088] ChrX:12718107 [GRCh38]
ChrX:12736226 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.422+9C>T single nucleotide variant Mental retardation, X-linked 104 [RCV001333089] ChrX:12614890 [GRCh38]
ChrX:12633009 [GRCh37]
ChrX:Xp22.2
uncertain significance
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: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: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 Xp22.33-11.23(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 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 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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=) single nucleotide variant not provided [RCV000175078] ChrX:12718564 [GRCh38]
ChrX:12736683 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=) single nucleotide variant not provided [RCV000175079] ChrX:12717655 [GRCh38]
ChrX:12735774 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
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 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
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 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 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 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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
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 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
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 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 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 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
NM_014728.3(FRMPD4):c.721G>C (p.Gly241Arg) single nucleotide variant not provided [RCV000514687] ChrX:12690234 [GRCh38]
ChrX:12708353 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.2(chrX:11674170-12615106)x3 copy number gain See cases [RCV000142591] ChrX:11674170..12615106 [GRCh38]
ChrX:11692290..12633225 [GRCh37]
ChrX:11602211..12543146 [NCBI36]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys) single nucleotide variant not provided [RCV000904861]|not specified [RCV000153275] ChrX:12718205 [GRCh38]
ChrX:12736324 [GRCh37]
ChrX:Xp22.2
benign|likely benign
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_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000659681]|not provided [RCV000723906]|not specified [RCV000153276] ChrX:12718763 [GRCh38]
ChrX:12736882 [GRCh37]
ChrX:Xp22.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001368397.1(FRMPD4):c.1070+7G>A single nucleotide variant not specified [RCV000192388] ChrX:12702017 [GRCh38]
ChrX:12720136 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2182G>A (p.Ala728Thr) single nucleotide variant not specified [RCV000192644] ChrX:12716641 [GRCh38]
ChrX:12734760 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr) single nucleotide variant not provided [RCV000958468]|not specified [RCV000192896] ChrX:12614847 [GRCh38]
ChrX:12632966 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001368397.1(FRMPD4):c.2903C>T (p.Ser968Leu) single nucleotide variant not specified [RCV000193481] ChrX:12717729 [GRCh38]
ChrX:12735848 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly) single nucleotide variant not specified [RCV000193561] ChrX:12716507 [GRCh38]
ChrX:12734626 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3938G>A (p.Arg1313Gln) single nucleotide variant not specified [RCV000194122] ChrX:12718764 [GRCh38]
ChrX:12736883 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3261C>T (p.Arg1087=) single nucleotide variant not specified [RCV000194682] ChrX:12718087 [GRCh38]
ChrX:12736206 [GRCh37]
ChrX:Xp22.2
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
NM_001368397.1(FRMPD4):c.2154C>T (p.Asn718=) single nucleotide variant not specified [RCV000194792] ChrX:12716613 [GRCh38]
ChrX:12734732 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 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
NM_001368397.1(FRMPD4):c.981T>C (p.Tyr327=) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000659680] ChrX:12701921 [GRCh38]
ChrX:12720040 [GRCh37]
ChrX:Xp22.2
likely benign
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_014728.3(FRMPD4):c.1657T>C (p.Cys553Arg) single nucleotide variant Mental retardation, X-linked 104 [RCV000252374] ChrX:12716116 [GRCh38]
ChrX:12734235 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014728.3(FRMPD4):c.1851del (p.Cys618fs) deletion Mental retardation, X-linked 104 [RCV000247605] ChrX:12716306 [GRCh38]
ChrX:12734425 [GRCh37]
ChrX:Xp22.2
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_001368397.1(FRMPD4):c.2878G>A (p.Ala960Thr) single nucleotide variant not provided [RCV000487715] ChrX:12717704 [GRCh38]
ChrX:12735823 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
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_001368397.1(FRMPD4):c.1399G>A (p.Val467Ile) single nucleotide variant not provided [RCV000585353] ChrX:12707580 [GRCh38]
ChrX:12725699 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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 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: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 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 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 Xp22.2(chrX:11258243-14177713)x1 copy number loss See cases [RCV000448381] ChrX:11258243..14177713 [GRCh37]
ChrX:Xp22.2
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
NM_001368397.1(FRMPD4):c.1287+26del deletion not specified [RCV000455641] ChrX:12706924 [GRCh38]
ChrX:12725043 [GRCh37]
ChrX:Xp22.2
benign
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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001368397.1(FRMPD4):c.42-9C>A single nucleotide variant not specified [RCV000503328] ChrX:12498671 [GRCh38]
ChrX:12516790 [GRCh37]
ChrX:Xp22.2
uncertain significance
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_001368397.1(FRMPD4):c.3813C>T (p.His1271=) single nucleotide variant not specified [RCV000503798] ChrX:12718639 [GRCh38]
ChrX:12736758 [GRCh37]
ChrX:Xp22.2
benign|likely benign
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp) single nucleotide variant not provided [RCV000964198]|not specified [RCV000502341] ChrX:12717058 [GRCh38]
ChrX:12735177 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001368397.1(FRMPD4):c.3067T>C (p.Cys1023Arg) single nucleotide variant not specified [RCV000502167] ChrX:12717893 [GRCh38]
ChrX:12736012 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.1924G>A (p.Ala642Thr) single nucleotide variant not specified [RCV000500282] ChrX:12716383 [GRCh38]
ChrX:12734502 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
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 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:11622217-12676877)x2 copy number gain not provided [RCV000684273] ChrX:11622217..12676877 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11770846-12680420)x3 copy number gain not provided [RCV000684275] ChrX:11770846..12680420 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.2(chrX:11688762-12188817)x2 copy number gain not provided [RCV000684274] ChrX:11688762..12188817 [GRCh37]
ChrX:Xp22.2
uncertain significance
NC_000023.10:g.12515801_12581900del deletion Mental retardation, X-linked 104 [RCV000735867] ChrX:12515801..12581900 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_014728.3(FRMPD4):c.856C>T (p.Arg286Ter) single nucleotide variant Mental retardation, X-linked 104 [RCV000735868] ChrX:12694377 [GRCh38]
ChrX:12712496 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:12395322-12551001)x1 copy number loss not provided [RCV000753384] ChrX:12395322..12551001 [GRCh37]
ChrX:Xp22.2
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
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
NM_001368397.1(FRMPD4):c.2868C>T (p.Ser956=) single nucleotide variant not provided [RCV000916796] ChrX:12717694 [GRCh38]
ChrX:12735813 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1061A>G (p.Lys354Arg) single nucleotide variant not provided [RCV000762605] ChrX:12702001 [GRCh38]
ChrX:12720120 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2402G>A (p.Arg801His) single nucleotide variant not provided [RCV000762606] ChrX:12716861 [GRCh38]
ChrX:12734980 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3713C>T (p.Pro1238Leu) single nucleotide variant not provided [RCV000762607] ChrX:12718539 [GRCh38]
ChrX:12736658 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2003C>A (p.Thr668Asn) single nucleotide variant not provided [RCV000929221] ChrX:12716462 [GRCh38]
ChrX:12734581 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.3702C>T (p.Pro1234=) single nucleotide variant not provided [RCV000922819] ChrX:12718528 [GRCh38]
ChrX:12736647 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.2859C>T (p.Phe953=) single nucleotide variant not provided [RCV000924759] ChrX:12717685 [GRCh38]
ChrX:12735804 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1821C>T (p.Asn607=) single nucleotide variant not provided [RCV000965517] ChrX:12716280 [GRCh38]
ChrX:12734399 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.1287+15_1287+26dup duplication not provided [RCV000971835] ChrX:12706923..12706924 [GRCh38]
ChrX:12725042..12725043 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.3964+7C>A single nucleotide variant not provided [RCV000922196] ChrX:12718797 [GRCh38]
ChrX:12736916 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.3260G>A (p.Arg1087His) single nucleotide variant not provided [RCV000981838] ChrX:12718086 [GRCh38]
ChrX:12736205 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.3880C>T (p.Leu1294=) single nucleotide variant not provided [RCV000927049] ChrX:12718706 [GRCh38]
ChrX:12736825 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1398C>T (p.His466=) single nucleotide variant not provided [RCV000904759] ChrX:12707579 [GRCh38]
ChrX:12725698 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.2760T>C (p.Ser920=) single nucleotide variant not provided [RCV000928980] ChrX:12717586 [GRCh38]
ChrX:12735705 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.255C>T (p.Pro85=) single nucleotide variant not provided [RCV000922485] ChrX:12609817 [GRCh38]
ChrX:12627936 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) single nucleotide variant Mental retardation, X-linked 104 [RCV000984494] ChrX:12707469 [GRCh38]
ChrX:12725588 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
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
NM_001368397.1(FRMPD4):c.3438A>C (p.Gln1146His) single nucleotide variant not provided [RCV000898178] ChrX:12718264 [GRCh38]
ChrX:12736383 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.3566G>A (p.Arg1189His) single nucleotide variant not provided [RCV000907168] ChrX:12718392 [GRCh38]
ChrX:12736511 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.2346C>T (p.Asp782=) single nucleotide variant not provided [RCV000921080] ChrX:12716805 [GRCh38]
ChrX:12734924 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.2604C>T (p.Ala868=) single nucleotide variant not provided [RCV000918587] ChrX:12717063 [GRCh38]
ChrX:12735182 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.3907C>T (p.Leu1303=) single nucleotide variant not provided [RCV000915054] ChrX:12718733 [GRCh38]
ChrX:12736852 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.3567C>G (p.Arg1189=) single nucleotide variant not provided [RCV000925907] ChrX:12718393 [GRCh38]
ChrX:12736512 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) single nucleotide variant not provided [RCV000915212] ChrX:12706852 [GRCh38]
ChrX:12724971 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.2892T>C (p.Pro964=) single nucleotide variant not provided [RCV000931939] ChrX:12717718 [GRCh38]
ChrX:12735837 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1728G>A (p.Lys576=) single nucleotide variant not provided [RCV000924442] ChrX:12716187 [GRCh38]
ChrX:12734306 [GRCh37]
ChrX:Xp22.2
benign
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_001368397.1(FRMPD4):c.2907C>T (p.His969=) single nucleotide variant not provided [RCV000914349] ChrX:12717733 [GRCh38]
ChrX:12735852 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh38/hg38 Xp22.2(chrX:11240104-11903527)x3 copy number gain See cases [RCV000054141] ChrX:11240104..11903527 [GRCh38]
ChrX:11258224..11921646 [GRCh37]
ChrX:11168145..11831567 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_001368397.1(FRMPD4):c.3459C>T (p.Asp1153=) single nucleotide variant not provided [RCV000999321] ChrX:12718285 [GRCh38]
ChrX:12736404 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11688774-12188818)x2 copy number gain not provided [RCV000846746] ChrX:11688774..12188818 [GRCh37]
ChrX:Xp22.2
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
NM_001368397.1(FRMPD4):c.1736C>T (p.Thr579Met) single nucleotide variant not provided [RCV000942349] ChrX:12716195 [GRCh38]
ChrX:12734314 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.2640C>T (p.Ser880=) single nucleotide variant not provided [RCV000942576] ChrX:12717099 [GRCh38]
ChrX:12735218 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001368397.1(FRMPD4):c.3822C>G (p.Thr1274=) single nucleotide variant not provided [RCV000914058] ChrX:12718648 [GRCh38]
ChrX:12736767 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.937T>C (p.Cys313Arg) single nucleotide variant not provided [RCV000999319] ChrX:12701877 [GRCh38]
ChrX:12719996 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3743T>G (p.Ile1248Ser) single nucleotide variant not provided [RCV000999322] ChrX:12718569 [GRCh38]
ChrX:12736688 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:11741385-12371156)x1 copy number loss not provided [RCV001007262] ChrX:11741385..12371156 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.182T>A (p.Phe61Tyr) single nucleotide variant not specified [RCV001199913] ChrX:12609744 [GRCh38]
ChrX:12627863 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_001368397.1(FRMPD4):c.2684T>A (p.Ile895Asn) single nucleotide variant not provided [RCV000999320] ChrX:12717510 [GRCh38]
ChrX:12735629 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_001368397.1(FRMPD4):c.2605G>A (p.Val869Ile) single nucleotide variant not provided [RCV001200205] ChrX:12717064 [GRCh38]
ChrX:12735183 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val) single nucleotide variant Mental retardation, X-linked 104 [RCV001198441] ChrX:12716384 [GRCh38]
ChrX:12734503 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2775A>T (p.Ala925=) single nucleotide variant not provided [RCV000930318] ChrX:12717601 [GRCh38]
ChrX:12735720 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1021G>A (p.Ala341Thr) single nucleotide variant not provided [RCV000896720] ChrX:12701961 [GRCh38]
ChrX:12720080 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=) single nucleotide variant not provided [RCV000887304] ChrX:12690254 [GRCh38]
ChrX:12708373 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.1840G>A (p.Gly614Arg) single nucleotide variant not provided [RCV000914946] ChrX:12716299 [GRCh38]
ChrX:12734418 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.528C>G (p.Val176=) single nucleotide variant not provided [RCV000901503] ChrX:12683542 [GRCh38]
ChrX:12701661 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.2841A>G (p.Ala947=) single nucleotide variant not provided [RCV000920695] ChrX:12717667 [GRCh38]
ChrX:12735786 [GRCh37]
ChrX:Xp22.2
benign
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_001368397.1(FRMPD4):c.78G>A (p.Ser26=) single nucleotide variant not provided [RCV000911108] ChrX:12498716 [GRCh38]
ChrX:12516835 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.1287+13_1287+26dup duplication not provided [RCV000955994] ChrX:12706923..12706924 [GRCh38]
ChrX:12725042..12725043 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.2160C>T (p.Gly720=) single nucleotide variant not provided [RCV000912371] ChrX:12716619 [GRCh38]
ChrX:12734738 [GRCh37]
ChrX:Xp22.2
benign
NM_001368397.1(FRMPD4):c.933+1G>A single nucleotide variant not provided [RCV001093291] ChrX:12694455 [GRCh38]
ChrX:12712574 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile) single nucleotide variant Mental retardation, X-linked 104 [RCV001170006] ChrX:12686103 [GRCh38]
ChrX:12704222 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_001368397.1(FRMPD4):c.2494G>A (p.Glu832Lys) single nucleotide variant Intellectual disability [RCV001251760] ChrX:12716953 [GRCh38]
ChrX:12735072 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs) deletion Mental retardation, X-linked 104 [RCV001253352] ChrX:12707476 [GRCh38]
ChrX:12725595 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:12656082-12975881)x3 copy number gain not provided [RCV001259462] ChrX:12656082..12975881 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.572C>T (p.Ser191Leu) single nucleotide variant Inborn genetic diseases [RCV001265784] ChrX:12683586 [GRCh38]
ChrX:12701705 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3308A>G (p.Glu1103Gly) single nucleotide variant Inborn genetic diseases [RCV001266482] ChrX:12718134 [GRCh38]
ChrX:12736253 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.238G>A (p.Glu80Lys) single nucleotide variant Inborn genetic diseases [RCV001266624] ChrX:12609800 [GRCh38]
ChrX:12627919 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro) single nucleotide variant Inborn genetic diseases [RCV001267539] ChrX:12717563 [GRCh38]
ChrX:12735682 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=) single nucleotide variant Mental retardation, X-linked 104 [RCV001334785] ChrX:12718138 [GRCh38]
ChrX:12736257 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys) single nucleotide variant Mental retardation, X-linked 104 [RCV001262275] ChrX:12707604 [GRCh38]
ChrX:12725723 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.230G>A (p.Arg77Gln) single nucleotide variant Inborn genetic diseases [RCV001267633] ChrX:12609792 [GRCh38]
ChrX:12627911 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro) single nucleotide variant Inborn genetic diseases [RCV001266814] ChrX:12716641 [GRCh38]
ChrX:12734760 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3794C>T (p.Ala1265Val) single nucleotide variant Inborn genetic diseases [RCV001265663] ChrX:12718620 [GRCh38]
ChrX:12736739 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.3059C>T (p.Ala1020Val) single nucleotide variant Inborn genetic diseases [RCV001266386] ChrX:12717885 [GRCh38]
ChrX:12736004 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.213C>G (p.Ile71Met) single nucleotide variant Inborn genetic diseases [RCV001266599] ChrX:12609775 [GRCh38]
ChrX:12627894 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met) single nucleotide variant Mental retardation, X-linked 104 [RCV001334784] ChrX:12717866 [GRCh38]
ChrX:12735985 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg) single nucleotide variant Mental retardation, X-linked 104 [RCV001333086] ChrX:12710400 [GRCh38]
ChrX:12728519 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val) single nucleotide variant Mental retardation, X-linked 104 [RCV001334783] ChrX:12716642 [GRCh38]
ChrX:12734761 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29007 AgrOrtholog
COSMIC FRMPD4 COSMIC
Ensembl Genes ENSG00000169933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370057 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482182 UniProtKB/TrEMBL
  ENSP00000492353 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499417 UniProtKB/TrEMBL
  ENSP00000499481 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499962 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500566 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502607 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616992 UniProtKB/TrEMBL
  ENST00000640291 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000656302 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000657176 UniProtKB/TrEMBL
  ENST00000672010 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672869 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000673271 ENTREZGENE
  ENST00000675598 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169933 GTEx
HGNC ID HGNC:29007 ENTREZGENE
Human Proteome Map FRMPD4 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FRMPD1/3/4_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9758 UniProtKB/Swiss-Prot
NCBI Gene 9758 ENTREZGENE
OMIM 300838 OMIM
  300983 OMIM
Pfam FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134977575 PharmGKB
PROSITE FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYX8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQW0_HUMAN UniProtKB/TrEMBL
  A0A590UJI1_HUMAN UniProtKB/TrEMBL
  A0A590UJL7_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH12_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHT2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH73_HUMAN UniProtKB/TrEMBL
  B7ZLE1_HUMAN UniProtKB/TrEMBL
  FRPD4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K0X9 UniProtKB/Swiss-Prot
  O15032 UniProtKB/Swiss-Prot