 |
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Colonic Neoplasms | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15059925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
|
|
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology Annotations
|
|
|
|
|
|
|
Molecular Pathway Annotations
|
Phenotype Annotations
|
|
|
References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Pipeline to import KEGG annotations from KEGG into RGD |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 7566098 8889549 9507006 9857189 10679202 10858458 10921882 11071869 11152963 11474197 11894095 11894096 12029088 12135478 12177062 12218189 12477932 12618476 12690097 12734385 12771190 12829691 12874286 12946264 14596919 15090612 15107835 15144186 15147912 15342556 15456872 15476827 15489334 15557335 15707590 15719014 15761153 15824310 15962011 16083285 16164598 16177060 16223483 16228008 16256071 16407834 16537602 16678097 16733801 16751601 16849543 16895919 17020880 17072306 17081983 17174262 17244534 17255943 17306257 17314030 17428861 17474147 17606992 17675467 17823309 18029348 18048363 18076569 18266907 18362180 18641129 18680311 19111555 19166927 19268472 19322201 19417776 19531213 20130058 20216986 20221403 20360068 20457601 20473970 20551902 20654576 20711168 20927317 21191027 21275903 21372129 21446695 21516116 21635887 21725061 21822214 21830225 21834987 21900206 22203040 22262777 22558309 22623531 22658674 22745667 22791810 22815893 22833562 22939629 23085457 23178720 23279575 23663663 24039852 24167568 25005938 25036637 25416956 25449262 25468996 25472714 25496667 25816594 26169354 26186194 26344197 26496610 26638075 27334924 27353366 27609421 28514442 29227594 29507755 29589748 29636373 30089695 31452512 |
Comparative Map Data| SH3KBP1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sh3kbp1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sh3kbp1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sh3kbp1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SH3KBP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SH3KBP1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sh3kbp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SH3KBP1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SH3KBP1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sh3kbp1 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| RH94355 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS8005 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS8004 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS443 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS3424 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| G62700 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| RH45953 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| SHGC-143702 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| 187J3_T7 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| 24O6_T7 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| 442A14_SP6 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| 692N21_SP6 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| 692N21_T7 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| G31065 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| RH18201 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| L77818 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS9770 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS8176 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| DXS8004 |
|
miRNA Target Status
| 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. |
||||||||
RNA-SEQ Expression| leukocyte | uterine cervix | nose | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | throat | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | penis | ovary | uterus | vagina | mammalian vulva | seminal vesicle | adipose tissue | musculature | chordate pharynx | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | epididymis | muscle of leg | muscle of arm | nasal septum | tongue | submandibular gland | skeletal muscle of trunk | parotid gland | temporal lobe | parietal lobe | caudate nucleus | putamen | globus pallidus | amygdala | forebrain | diencephalon | medulla oblongata | placenta | occipital lobe | hindbrain | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | tricuspid valve | mitral valve | pulmonary valve | locus ceruleus | spinal cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | bile duct | cartilage tissue | hippocampal formation | bone tissue | middle frontal gyrus | middle temporal gyrus | trachea | brain meninx | mouth mucosa | fallopian tube | left kidney | dorsal thalamus | umbilical cord blood | venous blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 1 | 30 | 12 | 298 | 23 | 87 | 3 | 617 | 130 | 17 | 1 | 20 | 66 | 24 | 108 | 1 | 3 | 175 | 42 | 3 | 3 | 4 | 2 | 30 | 2 | 1 | 1 | 2 | 1 | 46 | 1 | 1 | 1 | 23 | 107 | 1 | 1 | 8 | 1 | 18 | 4 | 11 | 1 | 55 | 243 | 2 | 115 | 2 | 3 | 174 | 1 | 1 | 17 | 5 | 4 | 6 | 2 | 5 | 81 | 2 | 2 | 38 | 30 | 1 | 1 | 11 | 8 | 1 | 1 | 1 | 1 | 1 | 1 | ||||||||||||||||||||||||||||||||||||
| Low | 10 | 1 | 5 | 2 | 2 | 1 | 1 | 4 | 34 | 12 | 7 | 5 | 2 | 1 | 5 | 8 | 1 | 3 | 1 | 7 | 1 | 2 | 1 | 16 | 5 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 5 | 63 | 1 | 118 | 1 | 90 | 1 | 1 | 3 | 1 | 11 | 1 | 1 | 1 | 1 | 5 | 1 | 1 | 1 | 13 | 1 | 2 | 1 | 1 | |||||||||||||||||||||||||||||||||||||||||
| Below cutoff | 1 | 1 | 1 | 5 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 3 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
Nucleotide Sequences| RefSeq Transcripts | NG_021367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001024666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001184960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_031892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011545503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF230904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF329267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF329268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF542051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK293234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK293237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK300189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK307276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK313308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL732325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL732327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL732409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL732423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL772197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY423734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY542305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC015806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC041055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC050663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP224209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CS300518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CS300519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC359739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC409010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DR000949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000379697 ⟹ ENSP00000369019 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000379698 ⟹ ENSP00000369020 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000379716 ⟹ ENSP00000369039 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000379726 ⟹ ENSP00000369049 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000397821 ⟹ ENSP00000380921 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000431164 ⟹ ENSP00000409292 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000432234 ⟹ ENSP00000388766 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000477102 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000494961 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001024666 ⟹ NP_001019837 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
|
|||||||||||||||||||||||||||||
| Sequence: |
AGAATAATTTTGCTGCCAAGTGAATCAGAGAGACTTGCAGTTCTCGGAGAGCACGGAACTTATThide sequence |
| RefSeq Acc Id: | NM_001184960 ⟹ NP_001171889 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
TCATTTGGTCCCAAGTATGACTCAGGGTTAGGCTGGGTCCTCAGGCTCCGTGCTGTTGGAAGGAhide sequence |
| RefSeq Acc Id: | NM_001353890 ⟹ NP_001340819 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TTTTTTTTTTTTTTTTTTTTTTTTTCGCAATTTCCACTCGCGGGGAGCAGGAAACCCGGCGCAGhide sequence |
| RefSeq Acc Id: | NM_001353891 ⟹ NP_001340820 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TTTTTTTTTTTTTTTTTTTTTTTTTCGCAATTTCCACTCGCGGGGAGCAGGAAACCCGGCGCAGhide sequence |
| RefSeq Acc Id: | NM_001353892 ⟹ NP_001340821 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TTTTTTTTTTTTTTTTTTTTTTTTTCGCAATTTCCACTCGCGGGGAGCAGGAAACCCGGCGCAGhide sequence |
| RefSeq Acc Id: | NM_001353893 ⟹ NP_001340822 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGAGGACCATGGGAAAGAGAGAGGAGGAGCCTGGGAAGGAGAAGGGACTGCAGCATCAGCTCCAhide sequence |
| RefSeq Acc Id: | NM_001353894 ⟹ NP_001340823 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGAGGACCATGGGAAAGAGAGAGGAGGAGCCTGGGAAGGAGAAGGGACTGCAGCATCAGCTCCAhide sequence |
| RefSeq Acc Id: | NM_001353895 ⟹ NP_001340824 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGAGGACCATGGGAAAGAGAGAGGAGGAGCCTGGGAAGGAGAAGGGACTGCAGCATCAGCTCCAhide sequence |
| RefSeq Acc Id: | NM_001353897 ⟹ NP_001340826 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TCATTTGGTCCCAAGTATGACTCAGGGTTAGGCTGGGTCCTCAGGCTCCGTGCTGTTGGAAGGAhide sequence |
| RefSeq Acc Id: | NM_031892 ⟹ NP_114098 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
|
|||||||||||||||||||||||||||||
| Sequence: |
TTTTTTTTTTTTTTTTTTTTTTTTTCGCAATTTCCACTCGCGGGGAGCAGGAAACCCGGCGCAGhide sequence |
| RefSeq Acc Id: | XM_011545498 ⟹ XP_011543800 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAGCAGGAGTCGCCCCGGGGhide sequence |
| RefSeq Acc Id: | XM_011545499 ⟹ XP_011543801 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
TGCCAAGTGAATCAGAGAGACTTGCAGTTCTCGGAGAGCACGGAACTTATTCCTGCCCAGAGTThide sequence |
| RefSeq Acc Id: | XM_011545500 ⟹ XP_011543802 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAGCAGGAGTCGCCCCGGGGhide sequence |
| RefSeq Acc Id: | XM_011545502 ⟹ XP_011543804 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GTTAGAAGCTGAGAAAGTAGACATACAATACTGTTGTTTTTTCAATTCAGAAGAGGCTAAAACAhide sequence |
| RefSeq Acc Id: | XM_011545503 ⟹ XP_011543805 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAGCAGGAGTCGCCCCGGGGhide sequence |
| RefSeq Acc Id: | XM_017029460 ⟹ XP_016884949 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GCCATAGTGGAGTTTGACTACCAGGCCCAGCACGATGATGAGCTGACGATCAGCGTGGGTGAAAhide sequence |
| RefSeq Acc Id: | XM_017029461 ⟹ XP_016884950 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GCCATAGTGGAGTTTGACTACCAGGCCCAGCACGATGATGAGCTGACGATCAGCGTGGGTGAAAhide sequence |
| RefSeq Acc Id: | XM_017029464 ⟹ XP_016884953 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CCACTCGCGGGGAGCAGGAAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAhide sequence |
| RefSeq Acc Id: | XM_017029465 ⟹ XP_016884954 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAGCAGGAGTCGCCCCGGGGhide sequence |
| RefSeq Acc Id: | XM_017029467 ⟹ XP_016884956 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
CACTCGCGGGGAGCAGGAAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAGhide sequence |
| RefSeq Acc Id: | XM_017029468 ⟹ XP_016884957 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAACCCGGCGCAGCCGGGCGCATTGGGCCGCGATGCAACAGCAGCAGCAGGAGTCGCCCCGGGGhide sequence |
| RefSeq Acc Id: | XM_017029469 ⟹ XP_016884958 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGAGAAGGGTATGTCCATGCAGAGCAAGCCAGCTGTGGGGCGTTTCACTCTTGAGGGTCACCGAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001019837 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001171889 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340819 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340820 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340821 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340822 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340823 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340824 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340826 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_114098 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011543800 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011543801 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011543802 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011543804 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011543805 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884949 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884950 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884953 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884954 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884956 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884957 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016884958 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF37854 | (Get FASTA) | NCBI Sequence Viewer |
| AAH15806 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH50663 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK95587 | (Get FASTA) | NCBI Sequence Viewer | |
| AAN77231 | (Get FASTA) | NCBI Sequence Viewer | |
| AAO13348 | (Get FASTA) | NCBI Sequence Viewer | |
| AAS00497 | (Get FASTA) | NCBI Sequence Viewer | |
| AAT08174 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG36113 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH11470 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH11471 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH13234 | (Get FASTA) | NCBI Sequence Viewer | |
| CAK32182 | (Get FASTA) | NCBI Sequence Viewer | |
| CAK32183 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW98964 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW98965 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW98966 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW98967 | (Get FASTA) | NCBI Sequence Viewer | |
| Q96B97 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_114098 ⟸ NM_031892 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot), Q5JPT6 (UniProtKB/TrEMBL) |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | NP_001019837 ⟸ NM_001024666 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEVSAAKAPSAADLSEIEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRhide sequence |
| RefSeq Acc Id: | NP_001171889 ⟸ NM_001184960 |
| - Peptide Label: | isoform c |
| - UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MGEETIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKDCIhide sequence |
| RefSeq Acc Id: | XP_011543802 ⟸ XM_011545500 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | XP_011543800 ⟸ XM_011545498 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | XP_011543801 ⟸ XM_011545499 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEVSAAKAPSAADLSEIEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRhide sequence |
| RefSeq Acc Id: | XP_011543804 ⟸ XM_011545502 |
| - Peptide Label: | isoform X10 |
| - Sequence: |
MPTHGSNLPEQYLSQYQHAVETIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDEhide sequence |
| RefSeq Acc Id: | XP_011543805 ⟸ XM_011545503 |
| - Peptide Label: | isoform X11 |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | XP_016884957 ⟸ XM_017029468 |
| - Peptide Label: | isoform X9 |
| - Sequence: |
MEAGGRDRSTAGEEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVhide sequence |
| RefSeq Acc Id: | XP_016884953 ⟸ XM_017029464 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MEAGGRDRSTAGEEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVhide sequence |
| RefSeq Acc Id: | XP_016884956 ⟸ XM_017029467 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MEAGGRDRSTAGEEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVhide sequence |
| RefSeq Acc Id: | XP_016884954 ⟸ XM_017029465 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MEAGGRDRSTAGEEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVhide sequence |
| RefSeq Acc Id: | XP_016884950 ⟸ XM_017029461 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MEAGGRDRSTAGEEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVhide sequence |
| RefSeq Acc Id: | XP_016884949 ⟸ XM_017029460 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MEAGGRDRSTAGEEIKKEMKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVhide sequence |
| RefSeq Acc Id: | XP_016884958 ⟸ XM_017029469 |
| - Peptide Label: | isoform X12 |
| - UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot), B7Z6E8 (UniProtKB/TrEMBL) |
| - Sequence: |
MDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKDCIDVGWWEGELNGRRGVFPDNFVKLhide sequence |
| RefSeq Acc Id: | NP_001340819 ⟸ NM_001353890 |
| - Peptide Label: | isoform d |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | NP_001340821 ⟸ NM_001353892 |
| - Peptide Label: | isoform f |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | NP_001340820 ⟸ NM_001353891 |
| - Peptide Label: | isoform e |
| - Sequence: |
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEMKKDPhide sequence |
| RefSeq Acc Id: | NP_001340823 ⟸ NM_001353894 |
| - Peptide Label: | isoform h |
| - Sequence: |
MKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVAFSYLPQNDDELELKVGDhide sequence |
| RefSeq Acc Id: | NP_001340822 ⟸ NM_001353893 |
| - Peptide Label: | isoform g |
| - Sequence: |
MKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVAFSYLPQNDDELELKVGDhide sequence |
| RefSeq Acc Id: | NP_001340824 ⟸ NM_001353895 |
| - Peptide Label: | isoform i |
| - Sequence: |
MKKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVAFSYLPQNDDELELKVGDhide sequence |
| RefSeq Acc Id: | NP_001340826 ⟸ NM_001353897 |
| - Peptide Label: | isoform j |
| - Sequence: |
MGEETIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKDCIhide sequence |
| RefSeq Acc Id: | ENSP00000369019 ⟸ ENST00000379697 |
| RefSeq Acc Id: | ENSP00000369020 ⟸ ENST00000379698 |
| RefSeq Acc Id: | ENSP00000369039 ⟸ ENST00000379716 |
| RefSeq Acc Id: | ENSP00000369049 ⟸ ENST00000379726 |
| RefSeq Acc Id: | ENSP00000409292 ⟸ ENST00000431164 |
| RefSeq Acc Id: | ENSP00000388766 ⟸ ENST00000432234 |
| RefSeq Acc Id: | ENSP00000380921 ⟸ ENST00000397821 |
Promoters| RGD ID: | 6808585 | |||||||||
| Promoter ID: | HG_KWN:66186 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid, NB4 | |||||||||
| Transcripts: | UC010NFM.1 | |||||||||
| Position: |
|
| RGD ID: | 6808729 | |||||||||
| Promoter ID: | HG_KWN:66187 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | ENST00000397811 | |||||||||
| Position: |
|
| RGD ID: | 6809259 | |||||||||
| Promoter ID: | HG_KWN:66188 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000055998 | |||||||||
| Position: |
|
| RGD ID: | 6809253 | |||||||||
| Promoter ID: | HG_KWN:66189 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3 | |||||||||
| Transcripts: | NM_001184960 | |||||||||
| Position: |
|
| RGD ID: | 6809260 | |||||||||
| Promoter ID: | HG_KWN:66190 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell_12Hour, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000056000 | |||||||||
| Position: |
|
| RGD ID: | 6808730 | |||||||||
| Promoter ID: | HG_KWN:66191 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid | |||||||||
| Transcripts: | ENST00000397804 | |||||||||
| Position: |
|
| RGD ID: | 6809257 | |||||||||
| Promoter ID: | HG_KWN:66192 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Jurkat, K562, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000055997 | |||||||||
| Position: |
|
| RGD ID: | 6809254 | |||||||||
| Promoter ID: | HG_KWN:66193 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000055995 | |||||||||
| Position: |
|
| RGD ID: | 6809258 | |||||||||
| Promoter ID: | HG_KWN:66194 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000055996 | |||||||||
| Position: |
|
| RGD ID: | 6809252 | |||||||||
| Promoter ID: | HG_KWN:66195 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Jurkat, Lymphoblastoid | |||||||||
| Transcripts: | NM_001024666 | |||||||||
| Position: |
|
| RGD ID: | 6814835 | |||||||||
| Promoter ID: | HG_XEF:8539 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid, NB4 | |||||||||
| Transcripts: | NM_001030805 | |||||||||
| Position: |
|
| RGD ID: | 13604886 | |||||||||
| Promoter ID: | EPDNEW_H28628 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SH3KBP1_2 | |||||||||
| Description: | SH3 domain containing kinase binding protein 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28629 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6808723 | |||||||||
| Promoter ID: | HG_KWN:66196 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000379697, ENST00000379702, ENST00000397808, NM_031892 | |||||||||
| Position: |
|
| RGD ID: | 13604890 | |||||||||
| Promoter ID: | EPDNEW_H28629 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SH3KBP1_1 | |||||||||
| Description: | SH3 domain containing kinase binding protein 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28628 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
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 |
| NM_031892.2(SH3KBP1):c.1494+1496C>A | single nucleotide variant | Lung cancer [RCV000102464] | ChrX:19548478 [GRCh38] ChrX:19566596 [GRCh37] ChrX:Xp22.12 |
uncertain significance |
| NM_031892.2(SH3KBP1):c.727-14586A>G | single nucleotide variant | Lung cancer [RCV000102465] | ChrX:19660061 [GRCh38] ChrX:19678179 [GRCh37] ChrX:Xp22.12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | Ventricular septal defect [RCV000050889]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|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:10679-156013167)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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|Postaxial polydactyly A5 [RCV000050698]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | Coarse facial features [RCV000050699]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|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 Xp22.13-22.12(chrX:18660565-19743908)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051384]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051384]|See cases [RCV000051384] | ChrX:18660565..19743908 [GRCh38] ChrX:18678685..19762026 [GRCh37] ChrX:18588606..19671947 [NCBI36] ChrX:Xp22.13-22.12 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 | copy number loss | Corpus callosum agenesis [RCV000051385]|See cases [RCV000051385] | ChrX:19677033..19881974 [GRCh38] ChrX:19695151..19900092 [GRCh37] ChrX:19605072..19810013 [NCBI36] ChrX:Xp22.12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051026]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051026]|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 | Obesity [RCV000052322]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|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 | Hypertelorism [RCV000052324]|See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 | copy number gain | Global developmental delay [RCV000052328]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052384]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052384]|See cases [RCV000052384] | ChrX:19624798..20573750 [GRCh38] ChrX:19642916..20591868 [GRCh37] ChrX:19552837..20501789 [NCBI36] ChrX:Xp22.12 |
pathogenic |
| GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3 | copy number gain | Nonsyndromic microcephaly [RCV000052385]|See cases [RCV000052385] | ChrX:19878110..20395102 [GRCh38] ChrX:19896228..20413220 [GRCh37] ChrX:19806149..20323141 [NCBI36] ChrX:Xp22.12 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | Global developmental delay [RCV000053005]|See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052981]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052981]|See cases [RCV000052981] | ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 | copy number loss | Global developmental delay [RCV000053007]|See cases [RCV000053007] | ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 | copy number loss | Global developmental delay [RCV000052990]|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 | Short stature [RCV000052993]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052994]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052994]|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 Xp22.33-11.21(chrX:10679-55550898)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] | ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 | copy number gain | Specific learning disability [RCV000053817]|See cases [RCV000053817] | ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
| NM_031892.2(SH3KBP1):c.1387T>C (p.Leu463=) | single nucleotide variant | Malignant melanoma [RCV000073147] | ChrX:19550081 [GRCh38] ChrX:19568199 [GRCh37] ChrX:19478120 [NCBI36] ChrX:Xp22.12 |
not provided |
| NM_031892.3(SH3KBP1):c.1258A>G (p.Arg420Gly) | single nucleotide variant | not provided [RCV000087241] | ChrX:19588683 [GRCh38] ChrX:19606801 [GRCh37] ChrX:Xp22.12 |
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 Xp22.33-11.22(chrX:10701-52857805)x1 | copy number loss | See cases [RCV000133817] | ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 | copy number loss | See cases [RCV000133745] | ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 | copy number loss | See cases [RCV000134568] | ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 | copy number loss | See cases [RCV000134026] | ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 | copy number loss | See cases [RCV000135305] | ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 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 |
| GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 | copy number gain | See cases [RCV000134875] | ChrX:15173626..23952585 [GRCh38] ChrX:15191748..23970702 [GRCh37] ChrX:15101669..23880623 [NCBI36] ChrX:Xp22.2-22.11 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 | copy number gain | See cases [RCV000134957] | ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 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-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 Xp22.33-11.22(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 Xp22.13-22.12(chrX:19073372-19743908)x2 | copy number gain | See cases [RCV000137714] | ChrX:19073372..19743908 [GRCh38] ChrX:19091490..19762026 [GRCh37] ChrX:19001411..19671947 [NCBI36] ChrX:Xp22.13-22.12 |
uncertain significance |
| 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 Xp22.33-22.12(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 Xp22.33-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 Xp22.2-21.2(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 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 | copy number loss | See cases [RCV000139343] | ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
| GRCh38/hg38 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 |
| GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 | copy number loss | See cases [RCV000142035] | ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 | copy number loss | See cases [RCV000143348] | ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 | copy number loss | See cases [RCV000143130] | ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-21.1(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 |
| 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 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 | copy number loss | See cases [RCV000239814] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
| SH3KBP1, 247.5-KB DEL | deletion | Agammaglobulinemia X-linked type 2 [RCV000768376]|Immunodeficiency 61 [RCV000768376] | ChrX:Xp22.12 | 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-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:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 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: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 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:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [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 |
| 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 Xp22.33-11.21(chrX:60814-55476165)x1 | copy number loss | not provided [RCV000753275] | ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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 Xp22.33-11.21(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:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [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-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:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
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:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..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 Xp22.12(chrX:19855485-20154502)x3 | copy number gain | See cases [RCV000446019] | ChrX:19855485..20154502 [GRCh37] ChrX:Xp22.12 |
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 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 | copy number loss | See cases [RCV000447773] | ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(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 |
| 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 Xp22.33-21.1(chrX:168546-35841052)x1 | copy number loss | See cases [RCV000510308] | ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1 |
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 Xp22.33-11.1(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:168546-57504183)x1 | copy number loss | See cases [RCV000511615] | ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)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 Xp22.2-21.2(chrX:15290524-29747172)x2 | copy number gain | See cases [RCV000511443] | ChrX:15290524..29747172 [GRCh37] ChrX:Xp22.2-21.2 |
likely 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:168546-54996659)x1 | copy number loss | See cases [RCV000510822] | ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
| Single allele | duplication | MECP2 duplication syndrome [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) | copy number gain | Congenital cerebellar hypoplasia [RCV000626551]|Torticollis [RCV000626551] | ChrX:19030055..19591281 [GRCh37] ChrX:Xp22.13-22.12 |
uncertain significance |
| 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-q13.3(chrX:168546-74549686) | copy number loss | See cases [RCV000512142] | ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 | copy number loss | See cases [RCV000512339] | ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
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 Xp22.33-22.11(chrX:168546-23785738)x1 | copy number loss | not provided [RCV000684183] | ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.3(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 Xp22.33-11.23(chrX:60814-48317386)x1 | copy number loss | not provided [RCV000753273] | ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
| GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 | copy number loss | not provided [RCV000846273] | ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.12(chrX:19515847-19825756)x2 | copy number gain | not provided [RCV000753415] | ChrX:19515847..19825756 [GRCh37] ChrX:Xp22.12 |
benign |
| GRCh37/hg19 Xp22.12(chrX:19561853-19949936)x3 | copy number gain | not provided [RCV000753416] | ChrX:19561853..19949936 [GRCh37] ChrX:Xp22.12 |
benign |
| 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-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [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:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] 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 |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] | 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 |
| NM_031892.3(SH3KBP1):c.801G>C (p.Lys267Asn) | single nucleotide variant | Esophageal atresia [RCV000984679] | ChrX:19645401 [GRCh38] ChrX:19663519 [GRCh37] ChrX:Xp22.12 |
likely 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 |
| Single allele | deletion | Neurodevelopmental disorder [RCV000787440] | ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 | copy number loss | See cases [RCV000790583] | ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 | copy number gain | not provided [RCV000849766] | ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11 |
pathogenic |
| GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 | copy number gain | not provided [RCV000849768] | ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11 |
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 |
| GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 | copy number gain | not provided [RCV000846517] | ChrX:15330714..21915234 [GRCh37] ChrX:Xp22.2-22.11 |
pathogenic |
| GRCh37/hg19 Xp22.12(chrX:19560561-19952212)x2 | copy number gain | not provided [RCV000846452] | ChrX:19560561..19952212 [GRCh37] ChrX:Xp22.12 |
uncertain significance |
| 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 |
| GRCh37/hg19 Xp22.12(chrX:19665569-19942210)x3 | copy number gain | not provided [RCV000846563] | ChrX:19665569..19942210 [GRCh37] ChrX:Xp22.12 |
uncertain significance |
| GRCh37/hg19 Xp22.13-22.12(chrX:19258311-20193960)x2 | copy number gain | not provided [RCV000845973] | ChrX:19258311..20193960 [GRCh37] ChrX:Xp22.13-22.12 |
uncertain significance |
| NM_031892.3(SH3KBP1):c.1621C>G (p.Gln541Glu) | single nucleotide variant | not provided [RCV000963537] | ChrX:19545924 [GRCh38] ChrX:19564042 [GRCh37] ChrX:Xp22.12 |
benign |
| NM_031892.3(SH3KBP1):c.42C>T (p.His14=) | single nucleotide variant | not provided [RCV000948149] | ChrX:19836245 [GRCh38] ChrX:19854363 [GRCh37] ChrX:Xp22.12 |
benign |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:13867 | AgrOrtholog |
| COSMIC | SH3KBP1 | COSMIC |
| Ensembl Genes | ENSG00000147010 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000369019 | UniProtKB/TrEMBL |
| ENSP00000369020 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000369039 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000369049 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000380921 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000388766 | UniProtKB/TrEMBL | |
| ENSP00000409292 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000379697 | UniProtKB/TrEMBL |
| ENST00000379698 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000379716 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000379726 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000397821 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000431164 | UniProtKB/TrEMBL | |
| ENST00000432234 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000147010 | GTEx |
| HGNC ID | HGNC:13867 | ENTREZGENE |
| Human Proteome Map | SH3KBP1 | Human Proteome Map |
| InterPro | CIN85_SH3_1 | UniProtKB/Swiss-Prot |
| CIN85_SH3_2 | UniProtKB/Swiss-Prot | |
| CIN85_SH3_3 | UniProtKB/Swiss-Prot | |
| SH3-like_dom_sf | UniProtKB/Swiss-Prot | |
| SH3_domain | UniProtKB/Swiss-Prot | |
| Sorbin_SH3 | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:30011 | UniProtKB/Swiss-Prot |
| NCBI Gene | 30011 | ENTREZGENE |
| OMIM | 300310 | OMIM |
| 300374 | OMIM | |
| PANTHER | PTHR14167:SF6 | UniProtKB/Swiss-Prot |
| Pfam | SH3_9 | UniProtKB/Swiss-Prot |
| PharmGKB | PA37822 | PharmGKB |
| PRINTS | SH3DOMAIN | UniProtKB/Swiss-Prot |
| PROSITE | SH3 | UniProtKB/Swiss-Prot |
| SMART | SH3 | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF50044 | UniProtKB/Swiss-Prot |
| UniGene | Hs.726365 | ENTREZGENE |
| UniProt | B7Z6E8 | ENTREZGENE, UniProtKB/TrEMBL |
| L0R6P6_HUMAN | UniProtKB/TrEMBL | |
| Q5JPT1_HUMAN | UniProtKB/TrEMBL | |
| Q5JPT2_HUMAN | UniProtKB/TrEMBL | |
| Q5JPT3_HUMAN | UniProtKB/TrEMBL | |
| Q5JPT6 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q5VSN0_HUMAN | UniProtKB/TrEMBL | |
| Q96B97 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | B7Z1D5 | UniProtKB/Swiss-Prot |
| Q5JPT4 | UniProtKB/Swiss-Prot | |
| Q5JPT5 | UniProtKB/Swiss-Prot | |
| Q8IWX6 | UniProtKB/Swiss-Prot | |
| Q8IX98 | UniProtKB/Swiss-Prot | |
| Q96RN4 | UniProtKB/Swiss-Prot | |
| Q9NYR0 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-05-03 | SH3KBP1 | SH3 domain containing kinase binding protein 1 | SH3-domain kinase binding protein 1 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on SH3KBP1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 732890 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2020-01-07 |
| Status: | ACTIVE |
 |
 |
 |
 |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
