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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Colonic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15059925 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Colonic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15059925 | |
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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 |
PMID:7566098 | PMID:8889549 | PMID:9507006 | PMID:9857189 | PMID:10679202 | PMID:10858458 | PMID:10921882 | PMID:11071869 | PMID:11152963 | PMID:11474197 | PMID:11894095 | PMID:11894096 |
PMID:12029088 | PMID:12135478 | PMID:12177062 | PMID:12218189 | PMID:12477932 | PMID:12618476 | PMID:12690097 | PMID:12734385 | PMID:12771190 | PMID:12829691 | PMID:12874286 | PMID:12946264 |
PMID:14596919 | PMID:15090612 | PMID:15107835 | PMID:15144186 | PMID:15147912 | PMID:15342556 | PMID:15456872 | PMID:15476827 | PMID:15489334 | PMID:15557335 | PMID:15707590 | PMID:15719014 |
PMID:15761153 | PMID:15824310 | PMID:15962011 | PMID:16083285 | PMID:16164598 | PMID:16177060 | PMID:16223483 | PMID:16228008 | PMID:16256071 | PMID:16407834 | PMID:16537602 | PMID:16678097 |
PMID:16733801 | PMID:16751601 | PMID:16849543 | PMID:16895919 | PMID:17020880 | PMID:17072306 | PMID:17081983 | PMID:17174262 | PMID:17244534 | PMID:17255943 | PMID:17306257 | PMID:17314030 |
PMID:17428861 | PMID:17474147 | PMID:17606992 | PMID:17675467 | PMID:17823309 | PMID:18029348 | PMID:18048363 | PMID:18076569 | PMID:18266907 | PMID:18362180 | PMID:18641129 | PMID:18680311 |
PMID:19111555 | PMID:19166927 | PMID:19268472 | PMID:19322201 | PMID:19417776 | PMID:19531213 | PMID:20130058 | PMID:20216986 | PMID:20221403 | PMID:20360068 | PMID:20457601 | PMID:20473970 |
PMID:20551902 | PMID:20654576 | PMID:20711168 | PMID:20927317 | PMID:21191027 | PMID:21275903 | PMID:21372129 | PMID:21446695 | PMID:21516116 | PMID:21635887 | PMID:21725061 | PMID:21822214 |
PMID:21830225 | PMID:21834987 | PMID:21900206 | PMID:22203040 | PMID:22262777 | PMID:22558309 | PMID:22623531 | PMID:22658674 | PMID:22745667 | PMID:22791810 | PMID:22815893 | PMID:22833562 |
PMID:22939629 | PMID:23085457 | PMID:23178720 | PMID:23279575 | PMID:23506116 | PMID:23663663 | PMID:24039852 | PMID:24167568 | PMID:25005938 | PMID:25036637 | PMID:25416956 | PMID:25449262 |
PMID:25468996 | PMID:25472714 | PMID:25496667 | PMID:25816594 | PMID:26169354 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:26638075 | PMID:27334924 | PMID:27353366 | PMID:27609421 |
PMID:28514442 | PMID:29227594 | PMID:29507755 | PMID:29589748 | PMID:29636373 | PMID:29791485 | PMID:30089695 | PMID:30397336 | PMID:31142511 | PMID:31413325 | PMID:31452512 | PMID:31586073 |
PMID:31980649 | PMID:32203420 | PMID:32296183 | PMID:32814053 | PMID:33430321 |
SH3KBP1 (Homo sapiens - human) |
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Sh3kbp1 (Mus musculus - house mouse) |
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Sh3kbp1 (Rattus norvegicus - Norway rat) |
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Sh3kbp1 (Chinchilla lanigera - long-tailed chinchilla) |
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SH3KBP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SH3KBP1 (Canis lupus familiaris - dog) |
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Sh3kbp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SH3KBP1 (Sus scrofa - pig) |
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SH3KBP1 (Chlorocebus sabaeus - African green monkey) |
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Sh3kbp1 (Heterocephalus glaber - naked mole-rat) |
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RH94355 |
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DXS8005 |
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DXS8004 |
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DXS443 |
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DXS3424 |
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G62700 |
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RH45953 |
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SHGC-143702 |
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187J3_T7 |
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24O6_T7 |
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442A14_SP6 |
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692N21_SP6 |
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692N21_T7 |
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G31065 |
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RH18201 |
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L77818 |
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DXS9770 |
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DXS8176 |
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DXS8004 |
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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. |
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 | 1147 | 1870 | 1082 | 162 | 1863 | 123 | 3156 | 591 | 2430 | 231 | 637 | 1529 | 52 | 1204 | 1601 | 4 | ||
Low | 1288 | 1115 | 641 | 462 | 85 | 341 | 1199 | 1603 | 1297 | 187 | 815 | 77 | 120 | 1187 | 1 | 2 | ||
Below cutoff | 2 | 2 | 1 | 3 | 1 | 1 | 1 | 1 | 6 | 5 | 1 | 1 |
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: |
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RefSeq Acc Id: | ENST00000379698 ⟹ ENSP00000369020 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000379716 ⟹ ENSP00000369039 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000379726 ⟹ ENSP00000369049 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000397821 ⟹ ENSP00000380921 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000431164 ⟹ ENSP00000409292 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000432234 ⟹ ENSP00000388766 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000477102 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000494961 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001024666 ⟹ NP_001019837 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001184960 ⟹ NP_001171889 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353890 ⟹ NP_001340819 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353891 ⟹ NP_001340820 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353892 ⟹ NP_001340821 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353893 ⟹ NP_001340822 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353894 ⟹ NP_001340823 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353895 ⟹ NP_001340824 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001353897 ⟹ NP_001340826 | ||||||||
RefSeq Status: | REVIEWED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_031892 ⟹ NP_114098 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545498 ⟹ XP_011543800 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545499 ⟹ XP_011543801 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545500 ⟹ XP_011543802 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545502 ⟹ XP_011543804 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011545503 ⟹ XP_011543805 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029460 ⟹ XP_016884949 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029461 ⟹ XP_016884950 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029464 ⟹ XP_016884953 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029465 ⟹ XP_016884954 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029467 ⟹ XP_016884956 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029468 ⟹ XP_016884957 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029469 ⟹ XP_016884958 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
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: |
RefSeq Acc Id: | NP_001019837 ⟸ NM_001024666 |
- Peptide Label: | isoform b |
- UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001171889 ⟸ NM_001184960 |
- Peptide Label: | isoform c |
- UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011543802 ⟸ XM_011545500 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011543800 ⟸ XM_011545498 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011543801 ⟸ XM_011545499 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011543804 ⟸ XM_011545502 |
- Peptide Label: | isoform X10 |
- Sequence: |
RefSeq Acc Id: | XP_011543805 ⟸ XM_011545503 |
- Peptide Label: | isoform X11 |
- Sequence: |
RefSeq Acc Id: | XP_016884957 ⟸ XM_017029468 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | XP_016884953 ⟸ XM_017029464 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_016884956 ⟸ XM_017029467 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016884954 ⟸ XM_017029465 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_016884950 ⟸ XM_017029461 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_016884949 ⟸ XM_017029460 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016884958 ⟸ XM_017029469 |
- Peptide Label: | isoform X12 |
- UniProtKB: | Q96B97 (UniProtKB/Swiss-Prot), B7Z6E8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001340819 ⟸ NM_001353890 |
- Peptide Label: | isoform d |
- Sequence: |
RefSeq Acc Id: | NP_001340821 ⟸ NM_001353892 |
- Peptide Label: | isoform f |
- Sequence: |
RefSeq Acc Id: | NP_001340820 ⟸ NM_001353891 |
- Peptide Label: | isoform e |
- Sequence: |
RefSeq Acc Id: | NP_001340823 ⟸ NM_001353894 |
- Peptide Label: | isoform h |
- Sequence: |
RefSeq Acc Id: | NP_001340822 ⟸ NM_001353893 |
- Peptide Label: | isoform g |
- Sequence: |
RefSeq Acc Id: | NP_001340824 ⟸ NM_001353895 |
- Peptide Label: | isoform i |
- Sequence: |
RefSeq Acc Id: | NP_001340826 ⟸ NM_001353897 |
- Peptide Label: | isoform j |
- 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 |
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: |
|
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 | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-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 Xp22.13-22.12(chrX:18660565-19743908)x1 | copy number loss | 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 | 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 | See cases [RCV000051026] | ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 | copy number gain | See cases [RCV000052328] | ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3 | copy number gain | 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 | 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 | 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 | 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 | See cases [RCV000053007] | ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 | copy number loss | See cases [RCV000052990] | ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 | copy number loss | See cases [RCV000052993] | ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 | copy number loss | See cases [RCV000052994] | ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] | ChrX:10679..21811030 [GRCh38] ChrX:60679..21829148 [GRCh37] ChrX:679..21739069 [NCBI36] ChrX:Xp22.33-22.12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] | ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 | copy number gain | See cases [RCV000053817] | ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
NM_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 |
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) | copy number gain | Unilateral renal agenesis [RCV001291960] | ChrX:19183657..20215858 [GRCh37] ChrX:Xp22.13-22.12 |
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 |
NC_000023.10:g.19667630_19886572del | deletion | 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 | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) | copy number gain | 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] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 | copy number gain | not provided [RCV001007268] | ChrX:16194993..20640014 [GRCh37] ChrX:Xp22.2-22.12 |
pathogenic |
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 | copy number gain | not provided [RCV001007235] | ChrX:1240318..20986848 [GRCh37] ChrX:Xp22.33-22.12 |
pathogenic |
NM_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 Xp22.33-22.11(chrX:537158-22883547)x1 | copy number loss | not provided [RCV001007223] | ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 | copy number loss | not provided [RCV001007224] | ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
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 |
GRCh37/hg19 Xp22.13-22.12(chrX:19167477-19595672)x3 | copy number gain | not provided [RCV001007270] | ChrX:19167477..19595672 [GRCh37] ChrX:Xp22.13-22.12 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 | copy number loss | not provided [RCV001007559] | ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 | copy number loss | See cases [RCV001263061] | ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_031892.3(SH3KBP1):c.1657C>T (p.Pro553Ser) | single nucleotide variant | not provided [RCV001320559] | ChrX:19542160 [GRCh38] ChrX:19560278 [GRCh37] ChrX:Xp22.12 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 | copy number loss | not provided [RCV001281358] | ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NC_000023.10:g.(?_17393881)_(20284750_?)dup | duplication | Early infantile epileptic encephalopathy 2 [RCV001345684] | ChrX:17393881..20284750 [GRCh37] ChrX:Xp22.13-22.12 |
uncertain significance |
NM_031892.3(SH3KBP1):c.264G>A (p.Thr88=) | single nucleotide variant | not provided [RCV001311820] | ChrX:19746340 [GRCh38] ChrX:19764458 [GRCh37] ChrX:Xp22.12 |
likely benign |
NM_031892.3(SH3KBP1):c.1635C>A (p.Asn545Lys) | single nucleotide variant | not provided [RCV001294600] | ChrX:19542182 [GRCh38] ChrX:19560300 [GRCh37] ChrX:Xp22.12 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:13867 | AgrOrtholog |
COSMIC | SH3KBP1 | COSMIC |
Ensembl Genes | ENSG00000147010 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 | CD2AP | UniProtKB/TrEMBL |
CIN85_SH3_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
CIN85_SH3_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
CIN85_SH3_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sorbin_SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:30011 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 30011 | ENTREZGENE |
OMIM | 300310 | OMIM |
300374 | OMIM | |
PANTHER | PTHR14167:SF23 | UniProtKB/TrEMBL |
PTHR14167:SF6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | SH3_9 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA37822 | PharmGKB |
PRINTS | SH3DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF50044 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 |
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 |