SYTL4 (synaptotagmin like 4) - Rat Genome Database

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Gene: SYTL4 (synaptotagmin like 4) Homo sapiens
Analyze
Symbol: SYTL4
Name: synaptotagmin like 4
RGD ID: 734138
HGNC Page HGNC
Description: Predicted to have neurexin family protein binding activity and phospholipid binding activity. Involved in several processes, including plasma membrane repair; positive regulation of secretion by cell; and regulation of plasma membrane repair. Localizes to endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp451P0116; exophilin-2; FLJ40960; granuphilin-a; SLP4; synaptotagmin-like protein 4
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 EnsemblX100,674,491 - 100,732,123 (-)EnsemblGRCh38hg38GRCh38
GRCh38X100,671,964 - 100,732,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,929,488 - 99,987,108 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,816,144 - 99,873,154 (-)NCBINCBI36hg18NCBI36
Build 34X99,735,633 - 99,792,643NCBI
CeleraX100,448,228 - 100,505,895 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,729,520 - 89,785,468 (-)NCBIHuRef
CHM1_1X99,822,386 - 99,880,040 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2732579   PMID:10497219   PMID:11773082   PMID:11865063   PMID:11956164   PMID:12101244   PMID:12176990   PMID:12477932   PMID:12590134   PMID:12665801   PMID:14702039   PMID:15342556  
PMID:15489334   PMID:15563604   PMID:15772651   PMID:16189514   PMID:16344560   PMID:16831872   PMID:17081983   PMID:18029348   PMID:19615732   PMID:19966785   PMID:20360068   PMID:21873635  
PMID:23140275   PMID:24184645   PMID:24700782   PMID:25416956   PMID:25595293   PMID:26186194   PMID:26553929   PMID:27032672   PMID:27325790   PMID:28514442   PMID:28906046   PMID:30021884  
PMID:30194290   PMID:30442766   PMID:30639242   PMID:31515488   PMID:31930596   PMID:32120844   PMID:32296183  


Genomics

Comparative Map Data
SYTL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX100,674,491 - 100,732,123 (-)EnsemblGRCh38hg38GRCh38
GRCh38X100,671,964 - 100,732,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,929,488 - 99,987,108 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,816,144 - 99,873,154 (-)NCBINCBI36hg18NCBI36
Build 34X99,735,633 - 99,792,643NCBI
CeleraX100,448,228 - 100,505,895 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,729,520 - 89,785,468 (-)NCBIHuRef
CHM1_1X99,822,386 - 99,880,040 (-)NCBICHM1_1
Sytl4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X132,837,134 - 132,882,569 (-)NCBIGRCm39mm39
GRCm39 EnsemblX132,837,134 - 132,882,561 (-)Ensembl
GRCm38X133,936,385 - 133,981,821 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX133,936,385 - 133,981,812 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,470,924 - 130,516,322 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X129,282,735 - 129,328,133 (-)NCBImm8
CeleraX116,812,358 - 116,857,700 (-)NCBICelera
Cytogenetic MapXE3NCBI
Sytl4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,135,500 - 97,185,867 (-)NCBI
Rnor_6.0 EnsemblX104,765,294 - 104,814,145 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X104,763,961 - 104,814,152 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X104,598,207 - 104,648,029 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,473,414 - 121,499,134 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X121,546,846 - 121,572,567 (-)NCBI
CeleraX98,183,387 - 98,209,107 (-)NCBICelera
Cytogenetic MapXq32NCBI
Sytl4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555036,821,236 - 6,899,983 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555036,821,263 - 6,899,983 (-)NCBIChiLan1.0ChiLan1.0
SYTL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X100,024,434 - 100,051,663 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,024,434 - 100,051,663 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X89,885,478 - 89,941,381 (-)NCBIMhudiblu_PPA_v0panPan3
SYTL4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X74,537,937 - 74,617,580 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX74,539,183 - 74,565,753 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X75,947,618 - 76,027,046 (-)NCBI
UMICH_Zoey_3.1X73,510,069 - 73,589,479 (-)NCBI
UNSW_CanFamBas_1.0X75,180,356 - 75,259,782 (-)NCBI
UU_Cfam_GSD_1.0X74,941,410 - 75,020,845 (-)NCBI
Sytl4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,607,383 - 63,670,296 (+)NCBI
SpeTri2.0NW_0049365845,882,428 - 5,945,514 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYTL4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,367,549 - 82,437,404 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,367,546 - 82,437,439 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X90,208,955 - 90,310,119 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYTL4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X88,985,495 - 89,041,256 (-)NCBI
ChlSab1.1 EnsemblX88,987,016 - 89,041,194 (-)Ensembl
Sytl4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,876,608 - 1,945,728 (+)NCBI

Position Markers
DXS9763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X99,929,554 - 99,929,703UniSTSGRCh37
Build 36X99,816,210 - 99,816,359RGDNCBI36
CeleraX100,448,294 - 100,448,443RGD
Cytogenetic MapXq21.33-q23UniSTS
Cytogenetic MapXq21.33UniSTS
Stanford-G3 RH MapX3240.0UniSTS
GeneMap99-G3 RH MapX3261.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9039
Count of miRNA genes:1475
Interacting mature miRNAs:1997
Transcripts:ENST00000263033, ENST00000276141, ENST00000372981, ENST00000372989, ENST00000454200, ENST00000455616, ENST00000491326, ENST00000491602
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 416 14 512 34 26 33 482 163 700 54 664 325 2 148 392
Low 2015 2149 1181 578 576 420 3544 1877 2722 342 789 1250 169 1 1056 2294 5 1
Below cutoff 5 809 31 10 942 11 327 153 309 22 5 27 1 102

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF302493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP354718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB285556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z73900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263033   ⟹   ENSP00000263033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,675,897 - 100,732,121 (-)Ensembl
RefSeq Acc Id: ENST00000276141   ⟹   ENSP00000276141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,674,494 - 100,731,534 (-)Ensembl
RefSeq Acc Id: ENST00000372981   ⟹   ENSP00000362072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,684,696 - 100,732,120 (-)Ensembl
RefSeq Acc Id: ENST00000372989   ⟹   ENSP00000362080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,674,491 - 100,731,510 (-)Ensembl
RefSeq Acc Id: ENST00000491326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,731,414 - 100,732,123 (-)Ensembl
RefSeq Acc Id: ENST00000491602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,674,494 - 100,678,783 (-)Ensembl
RefSeq Acc Id: NM_001129896   ⟹   NP_001123368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
GRCh37X99,929,488 - 99,987,135 (-)RGD
CeleraX100,448,228 - 100,505,895 (-)RGD
HuRefX89,729,520 - 89,785,468 (-)ENTREZGENE
CHM1_1X99,822,386 - 99,880,040 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001174068   ⟹   NP_001167539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,731,534 (-)NCBI
GRCh37X99,929,488 - 99,987,135 (-)RGD
CeleraX100,448,228 - 100,505,895 (-)RGD
HuRefX89,729,520 - 89,785,468 (-)ENTREZGENE
CHM1_1X99,822,386 - 99,879,427 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370160   ⟹   NP_001357089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370161   ⟹   NP_001357090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370162   ⟹   NP_001357091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370163   ⟹   NP_001357092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370164   ⟹   NP_001357093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370165   ⟹   NP_001357094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370166   ⟹   NP_001357095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370167   ⟹   NP_001357096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370168   ⟹   NP_001357097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,732,121 (-)NCBI
RefSeq Acc Id: NM_001370169   ⟹   NP_001357098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,731,534 (-)NCBI
RefSeq Acc Id: NM_080737   ⟹   NP_542775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,674,491 - 100,731,534 (-)NCBI
GRCh37X99,929,488 - 99,987,135 (-)RGD
Build 36X99,816,144 - 99,873,154 (-)NCBI Archive
CeleraX100,448,228 - 100,505,895 (-)RGD
HuRefX89,729,520 - 89,785,468 (-)ENTREZGENE
CHM1_1X99,822,386 - 99,879,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029966   ⟹   XP_016885455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,671,964 - 100,732,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029967   ⟹   XP_016885456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,671,964 - 100,732,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029968   ⟹   XP_016885457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,671,964 - 100,732,121 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029969   ⟹   XP_016885458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,671,964 - 100,731,509 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029970   ⟹   XP_016885459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,671,964 - 100,704,850 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001123368 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357089 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357090 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357091 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357092 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357093 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357094 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357097 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357098 (Get FASTA)   NCBI Sequence Viewer  
  NP_542775 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885455 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885456 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885457 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885458 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885459 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14913 (Get FASTA)   NCBI Sequence Viewer  
  AAQ14492 (Get FASTA)   NCBI Sequence Viewer  
  BAF85277 (Get FASTA)   NCBI Sequence Viewer  
  BAG35911 (Get FASTA)   NCBI Sequence Viewer  
  BAG53606 (Get FASTA)   NCBI Sequence Viewer  
  CAD97652 (Get FASTA)   NCBI Sequence Viewer  
  CAI42004 (Get FASTA)   NCBI Sequence Viewer  
  CAI42005 (Get FASTA)   NCBI Sequence Viewer  
  CAI46126 (Get FASTA)   NCBI Sequence Viewer  
  EAX02813 (Get FASTA)   NCBI Sequence Viewer  
  EAX02814 (Get FASTA)   NCBI Sequence Viewer  
  EAX02815 (Get FASTA)   NCBI Sequence Viewer  
  Q96C24 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_542775   ⟸   NM_080737
- Peptide Label: isoform 1
- UniProtKB: Q96C24 (UniProtKB/Swiss-Prot),   A0A024RCF8 (UniProtKB/TrEMBL),   Q71SF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001167539   ⟸   NM_001174068
- Peptide Label: isoform 1
- UniProtKB: Q96C24 (UniProtKB/Swiss-Prot),   A0A024RCF8 (UniProtKB/TrEMBL),   B2R7R4 (UniProtKB/TrEMBL),   Q71SF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123368   ⟸   NM_001129896
- Peptide Label: isoform 1
- UniProtKB: Q96C24 (UniProtKB/Swiss-Prot),   A0A024RCF8 (UniProtKB/TrEMBL),   A8K973 (UniProtKB/TrEMBL),   Q71SF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885455   ⟸   XM_017029966
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885457   ⟸   XM_017029968
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885456   ⟸   XM_017029967
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885458   ⟸   XM_017029969
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885459   ⟸   XM_017029970
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001357090   ⟸   NM_001370161
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357093   ⟸   NM_001370164
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357095   ⟸   NM_001370166
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357097   ⟸   NM_001370168
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357092   ⟸   NM_001370163
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357091   ⟸   NM_001370162
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001357089   ⟸   NM_001370160
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357094   ⟸   NM_001370165
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357096   ⟸   NM_001370167
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357098   ⟸   NM_001370169
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000362072   ⟸   ENST00000372981
RefSeq Acc Id: ENSP00000362080   ⟸   ENST00000372989
RefSeq Acc Id: ENSP00000276141   ⟸   ENST00000276141
RefSeq Acc Id: ENSP00000263033   ⟸   ENST00000263033
Protein Domains
C2   RabBD

Promoters
RGD ID:6809304
Promoter ID:HG_KWN:67471
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000372989,   OTTHUMT00000057492,   UC004EGE.2,   UC004EGF.2,   UC004EGG.2,   UC010NNC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X99,873,071 - 99,873,872 (-)MPROMDB
RGD ID:13627592
Promoter ID:EPDNEW_H29072
Type:initiation region
Name:SYTL4_2
Description:synaptotagmin like 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29073  EPDNEW_H29074  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,731,530 - 100,731,590EPDNEW
RGD ID:13627596
Promoter ID:EPDNEW_H29073
Type:initiation region
Name:SYTL4_1
Description:synaptotagmin like 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29072  EPDNEW_H29074  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,732,120 - 100,732,180EPDNEW

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
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: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)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 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 Xp22.33-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: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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1(chrX:100665849-101051159)x2 copy number gain See cases [RCV000054229] ChrX:100665849..101051159 [GRCh38]
ChrX:99920846..100306148 [GRCh37]
ChrX:99807502..100192804 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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: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)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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.1(chrX:100286152-100924659)x2 copy number gain See cases [RCV000138284] ChrX:100286152..100924659 [GRCh38]
ChrX:99541150..100179648 [GRCh37]
ChrX:99427806..100066304 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq22.1(chrX:100650751-100680705)x3 copy number gain See cases [RCV000139310] ChrX:100650751..100680705 [GRCh38]
ChrX:99905748..99935702 [GRCh37]
ChrX:99792404..99822358 [NCBI36]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..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-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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)x1 copy number loss See cases [RCV000446413] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99920652-100125803)x2 copy number gain See cases [RCV000448899] ChrX:99920652..100125803 [GRCh37]
ChrX:Xq22.1
uncertain significance
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xq21.33-22.1(chrX:97026936-99973825)x3 copy number gain See cases [RCV000511720] ChrX:97026936..99973825 [GRCh37]
ChrX:Xq21.33-22.1
likely benign
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99764215-100150502)x3 copy number gain not provided [RCV000753686] ChrX:99764215..100150502 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2 copy number gain not provided [RCV000848726] ChrX:98987165..100421459 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99430457-100047314)x1 copy number loss not provided [RCV000845838] ChrX:99430457..100047314 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq22.1(chrX:99943376-100476729)x2 copy number gain not provided [RCV000849738] ChrX:99943376..100476729 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99858343-100348232)x3 copy number gain not provided [RCV001259486] ChrX:99858343..100348232 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99581496-100047228)x2 copy number gain not provided [RCV001259487] ChrX:99581496..100047228 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15588 AgrOrtholog
COSMIC SYTL4 COSMIC
Ensembl Genes ENSG00000102362 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000263033 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000276141 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362072 UniProtKB/Swiss-Prot
  ENSP00000362080 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263033 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000276141 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372981 UniProtKB/Swiss-Prot
  ENST00000372989 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102362 GTEx
HGNC ID HGNC:15588 ENTREZGENE
Human Proteome Map SYTL4 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYVE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYVE_Slp4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab_BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLP-4/5_C2A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYTL1-5_C2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYTL4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:94121 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 94121 ENTREZGENE
OMIM 300723 OMIM
PANTHER PTHR45716:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FYVE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37987 PharmGKB
PRINTS SYNAPTOTAGMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RCF8 ENTREZGENE, UniProtKB/TrEMBL
  A8K973 ENTREZGENE, UniProtKB/TrEMBL
  B2R7R4 ENTREZGENE, UniProtKB/TrEMBL
  Q71SF7 ENTREZGENE, UniProtKB/TrEMBL
  Q96C24 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5H9J3 UniProtKB/Swiss-Prot
  Q5JPG8 UniProtKB/Swiss-Prot
  Q8N9P4 UniProtKB/Swiss-Prot
  Q9H4R0 UniProtKB/Swiss-Prot
  Q9H4R1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SYTL4  synaptotagmin like 4    synaptotagmin-like 4  Symbol and/or name change 5135510 APPROVED