TPPP (tubulin polymerization promoting protein) - Rat Genome Database
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Gene: TPPP (tubulin polymerization promoting protein) Homo sapiens
Analyze
Symbol: TPPP
Name: tubulin polymerization promoting protein
RGD ID: 1605400
HGNC Page HGNC
Description: Exhibits several functions, including GTPase activity; magnesium ion binding activity; and protein homodimerization activity. Involved in several processes, including microtubule cytoskeleton organization; negative regulation of tubulin deacetylation; and positive regulation of protein polymerization. Localizes to several cellular components, including mitochondrion; mitotic spindle; and perinuclear region of cytoplasm. Colocalizes with microtubule and microtubule bundle; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 25 kDa brain-specific protein; brain specific protein p25 alpha; glycogen synthase kinase 3 (GSK3) inhibitor p24; p24; p25; p25-alpha; p25alpha; TPPP/p25; TPPP1; tubulin polymerization-promoting protein
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5659,862 - 693,352 (-)EnsemblGRCh38hg38GRCh38
GRCh385659,862 - 700,727 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375659,977 - 693,510 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh375659,977 - 693,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365712,977 - 746,510 (-)NCBINCBI36hg18NCBI36
Celera5756,043 - 773,959 (-)NCBI
Cytogenetic Map5p15.33NCBI
HuRef5643,544 - 661,474 (-)NCBIHuRef
CHM1_15655,371 - 689,478 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:8889548   PMID:10083737   PMID:11781156   PMID:12093283   PMID:12477932   PMID:14623963   PMID:14702039   PMID:15489334   PMID:15564385   PMID:15590652   PMID:15822905   PMID:16879710  
PMID:17027006   PMID:17105200   PMID:17693641   PMID:17823288   PMID:18025801   PMID:18028908   PMID:18029348   PMID:18204489   PMID:18311157   PMID:18728964   PMID:18854154   PMID:19382230  
PMID:19698783   PMID:20228799   PMID:20308065   PMID:20849899   PMID:21316364   PMID:21565174   PMID:21616478   PMID:21832049   PMID:21857997   PMID:21873635   PMID:21900749   PMID:21988832  
PMID:21995432   PMID:22083140   PMID:22326478   PMID:22328514   PMID:23093407   PMID:23161404   PMID:23355470   PMID:23727580   PMID:24655651   PMID:25445539   PMID:26186194   PMID:26289831  
PMID:26317805   PMID:26760575   PMID:27258419   PMID:27630306   PMID:27671864   PMID:28074911   PMID:28271739   PMID:28514442   PMID:29449217   PMID:29507755   PMID:30021884   PMID:31505170  
PMID:31522887   PMID:31631174   PMID:32296183   PMID:32457219   PMID:32814053  


Genomics

Comparative Map Data
TPPP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5659,862 - 693,352 (-)EnsemblGRCh38hg38GRCh38
GRCh385659,862 - 700,727 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375659,977 - 693,510 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh375659,977 - 693,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365712,977 - 746,510 (-)NCBINCBI36hg18NCBI36
Celera5756,043 - 773,959 (-)NCBI
Cytogenetic Map5p15.33NCBI
HuRef5643,544 - 661,474 (-)NCBIHuRef
CHM1_15655,371 - 689,478 (-)NCBICHM1_1
Tppp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391374,157,538 - 74,183,872 (+)NCBIGRCm39mm39
GRCm381374,009,419 - 74,035,753 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1374,009,407 - 74,035,753 (+)EnsemblGRCm38mm10GRCm38
MGSCv371374,146,867 - 74,173,201 (+)NCBIGRCm37mm9NCBIm37
MGSCv361374,475,480 - 74,501,755 (+)NCBImm8
Celera1376,339,205 - 76,365,541 (+)NCBICelera
Cytogenetic Map13C1NCBI
Tppp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2129,257,111 - 29,281,134 (-)NCBI
Rnor_6.0 Ensembl131,870,899 - 31,890,778 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0131,866,755 - 31,890,778 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0133,291,317 - 33,315,340 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4130,067,686 - 30,087,564 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1130,070,826 - 30,081,026 (-)NCBI
Celera127,912,466 - 27,932,345 (-)NCBICelera
Cytogenetic Map1p11NCBI
TPPP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15779,090 - 797,445 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5779,090 - 797,979 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05721,703 - 739,788 (-)NCBIMhudiblu_PPA_v0panPan3
TPPP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3411,629,378 - 11,642,639 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13411,633,054 - 11,645,585 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Tppp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936815842,279 - 882,985 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPPP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1679,538,752 - 79,557,889 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11679,535,037 - 79,556,383 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103214905
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.14532,328 - 565,826 (-)NCBI
ChlSab1.1 Ensembl4538,739 - 552,024 (-)Ensembl
Tppp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624751355,887 - 375,564 (-)NCBI

Position Markers
RH44504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375660,639 - 660,806UniSTSGRCh37
Build 365713,639 - 713,806RGDNCBI36
Celera5756,703 - 756,870RGD
Cytogenetic Map5p15.3UniSTS
HuRef5644,204 - 644,371UniSTS
GeneMap99-GB4 RH Map512.63UniSTS
WI-16049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375659,998 - 660,127UniSTSGRCh37
Build 365712,998 - 713,127RGDNCBI36
Celera5756,064 - 756,193RGD
Cytogenetic Map5p15.3UniSTS
HuRef5643,565 - 643,694UniSTS
GeneMap99-GB4 RH Map512.63UniSTS
Whitehead-RH Map515.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR206hsa-miR-206Mirtarbaseexternal_infoImmunoblot//Immunocytochemistry//Luciferase reportFunctional MTI19606501

Predicted Target Of
Summary Value
Count of predictions:2129
Count of miRNA genes:950
Interacting mature miRNAs:1115
Transcripts:ENST00000360578
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1611 1209 584 41 89 13 1352 1095 3014 90 175 819 29 101 938
Low 816 1237 1102 560 1073 428 2985 1077 708 312 1243 778 145 1 1103 1850 4 2
Below cutoff 12 543 36 22 757 23 16 24 9 16 41 13 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_007030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB017016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI796918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW955330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY319261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ066916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU726600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB478250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB546894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360578   ⟹   ENSP00000353785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5659,862 - 693,352 (-)Ensembl
RefSeq Acc Id: NM_007030   ⟹   NP_008961
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385659,862 - 693,352 (-)NCBI
GRCh375659,977 - 693,510 (-)ENTREZGENE
GRCh375659,977 - 693,510 (-)NCBI
Build 365712,977 - 746,510 (-)NCBI Archive
HuRef5643,544 - 661,474 (-)ENTREZGENE
CHM1_15655,371 - 689,478 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248237   ⟹   XP_005248294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385659,862 - 692,743 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008993   ⟹   XP_016864482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385659,862 - 681,625 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454346   ⟹   XP_024310114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385659,862 - 700,727 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008961   ⟸   NM_007030
- UniProtKB: O94811 (UniProtKB/Swiss-Prot),   Q4L233 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248294   ⟸   XM_005248237
- Peptide Label: isoform X2
- UniProtKB: O94811 (UniProtKB/Swiss-Prot),   Q4L233 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864482   ⟸   XM_017008993
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024310114   ⟸   XM_024454346
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000353785   ⟸   ENST00000360578

Promoters
RGD ID:6869138
Promoter ID:EPDNEW_H7734
Type:initiation region
Name:TPPP_1
Description:tubulin polymerization promoting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7735  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385693,314 - 693,374EPDNEW
RGD ID:6803618
Promoter ID:HG_KWN:49694
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003JBG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365731,931 - 732,431 (-)MPROMDB
RGD ID:6803617
Promoter ID:HG_KWN:49695
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_007030
Position:
Human AssemblyChrPosition (strand)Source
Build 365746,511 - 747,011 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 copy number loss See cases [RCV000050885] Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 copy number loss See cases [RCV000050655] Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:629340-820360)x1 copy number loss See cases [RCV000050363] Chr5:629340..820360 [GRCh38]
Chr5:629455..820475 [GRCh37]
Chr5:682455..873475 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 copy number loss See cases [RCV000051100] Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:138272-710438)x3 copy number gain See cases [RCV000051102] Chr5:138272..710438 [GRCh38]
Chr5:138387..710553 [GRCh37]
Chr5:191387..763553 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 copy number gain See cases [RCV000051808] Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 copy number gain See cases [RCV000051809] Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33(chr5:316478-937457)x3 copy number gain See cases [RCV000051661] Chr5:316478..937457 [GRCh38]
Chr5:316593..937572 [GRCh37]
Chr5:369593..990572 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 copy number loss See cases [RCV000053397] Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 copy number loss See cases [RCV000053400] Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 copy number loss See cases [RCV000053420] Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 copy number loss See cases [RCV000053421] Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 copy number loss See cases [RCV000053423] Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 copy number loss See cases [RCV000053444] Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:629340-820360)x3 copy number gain See cases [RCV000133834] Chr5:629340..820360 [GRCh38]
Chr5:629455..820475 [GRCh37]
Chr5:682455..873475 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 copy number gain See cases [RCV000135393] Chr5:22149..1278576 [GRCh38]
Chr5:22149..1278691 [GRCh37]
Chr5:75149..1331691 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:692766-772959)x1 copy number loss See cases [RCV000136442] Chr5:692766..772959 [GRCh38]
Chr5:692881..773074 [GRCh37]
Chr5:745881..826074 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:692766-795659)x3 copy number gain See cases [RCV000136177] Chr5:692766..795659 [GRCh38]
Chr5:692881..795774 [GRCh37]
Chr5:745881..848774 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 copy number loss See cases [RCV000136900] Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:435846-981479)x3 copy number gain See cases [RCV000137119] Chr5:435846..981479 [GRCh38]
Chr5:435961..981594 [GRCh37]
Chr5:488961..1034594 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:648037-820360)x3 copy number gain See cases [RCV000137202] Chr5:648037..820360 [GRCh38]
Chr5:648152..820475 [GRCh37]
Chr5:701152..873475 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 copy number loss See cases [RCV000138215] Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-946680)x1 copy number loss See cases [RCV000138166] Chr5:22149..946680 [GRCh38]
Chr5:22149..946795 [GRCh37]
Chr5:75149..999795 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 copy number loss See cases [RCV000137942] Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1
likely benign
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 copy number gain See cases [RCV000139303] Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3619159) copy number gain See cases [RCV000139908] Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 copy number loss See cases [RCV000141244] Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 copy number loss See cases [RCV000141930] Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 copy number loss See cases [RCV000141898] Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 copy number loss See cases [RCV000143018] Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:629140-820501)x3 copy number gain See cases [RCV000142544] Chr5:629140..820501 [GRCh38]
Chr5:629255..820616 [GRCh37]
Chr5:682255..873616 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 copy number loss See cases [RCV000142697] Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33(chr5:574789-759113)x1 copy number loss See cases [RCV000142745] Chr5:574789..759113 [GRCh38]
Chr5:574904..759228 [GRCh37]
Chr5:627904..812228 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 copy number gain See cases [RCV000142646] Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 copy number loss See cases [RCV000143332] Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:629340-820360)x1 copy number loss See cases [RCV000148184] Chr5:629340..820360 [GRCh38]
Chr5:629455..820475 [GRCh37]
Chr5:682455..873475 [NCBI36]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 copy number loss See cases [RCV000447679] Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 copy number loss See cases [RCV000446677] Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 copy number loss See cases [RCV000446523] Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 copy number loss See cases [RCV000446665] Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 copy number loss See cases [RCV000448543] Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 copy number loss See cases [RCV000447780] Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 copy number gain See cases [RCV000447969] Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:560768-667623)x3 copy number gain See cases [RCV000448388] Chr5:560768..667623 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 copy number loss See cases [RCV000511088] Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 copy number loss See cases [RCV000512452] Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 copy number loss not provided [RCV000682510] Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 copy number loss not provided [RCV000682511] Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 copy number loss not provided [RCV000682512] Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 copy number loss not provided [RCV000682513] Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 copy number loss not provided [RCV000682509] Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:403286-685504)x3 copy number gain not provided [RCV000744337] Chr5:403286..685504 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:403929-685748)x3 copy number gain not provided [RCV000744338] Chr5:403929..685748 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:403929-1065399)x3 copy number gain not provided [RCV000744339] Chr5:403929..1065399 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:594083-685748)x3 copy number gain not provided [RCV000744348] Chr5:594083..685748 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:652034-685748)x3 copy number gain not provided [RCV000744349] Chr5:652034..685748 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:668286-670706)x0 copy number loss not provided [RCV000744350] Chr5:668286..670706 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:677974-821992)x1 copy number loss not provided [RCV000744351] Chr5:677974..821992 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:681625-785864)x0 copy number loss not provided [RCV000744352] Chr5:681625..785864 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:681625-820185)x1 copy number loss not provided [RCV000744353] Chr5:681625..820185 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 copy number loss not provided [RCV000762763] Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33
likely pathogenic
NM_007030.3(TPPP):c.311+7G>T single nucleotide variant not provided [RCV000928654] Chr5:677743 [GRCh38]
Chr5:677858 [GRCh37]
Chr5:5p15.33
likely benign
NM_007030.3(TPPP):c.501G>A (p.Thr167=) single nucleotide variant not provided [RCV000950674] Chr5:665261 [GRCh38]
Chr5:665376 [GRCh37]
Chr5:5p15.33
benign
NM_007030.3(TPPP):c.444G>A (p.Ala148=) single nucleotide variant not provided [RCV000898439] Chr5:665991 [GRCh38]
Chr5:666106 [GRCh37]
Chr5:5p15.33
likely benign
NM_007030.3(TPPP):c.312-7_312-6insGCCTGTGCCCTAAGTCGACT insertion not provided [RCV000972109] Chr5:666129..666130 [GRCh38]
Chr5:666244..666245 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 copy number loss not provided [RCV001005645] Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)del deletion Idiopathic Pulmonary Fibrosis [RCV001032442] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
NM_007030.3(TPPP):c.57G>A (p.Pro19=) single nucleotide variant not provided [RCV000905510] Chr5:678004 [GRCh38]
Chr5:678119 [GRCh37]
Chr5:5p15.33
benign
NM_007030.3(TPPP):c.603T>C (p.Tyr201=) single nucleotide variant not provided [RCV000923868] Chr5:665159 [GRCh38]
Chr5:665274 [GRCh37]
Chr5:5p15.33
likely benign
NM_007030.3(TPPP):c.621C>T (p.His207=) single nucleotide variant not provided [RCV000963011] Chr5:665141 [GRCh38]
Chr5:665256 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 copy number loss not provided [RCV001005646] Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_007030.3(TPPP):c.171C>T (p.Arg57=) single nucleotide variant not provided [RCV000962101] Chr5:677890 [GRCh38]
Chr5:678005 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_007030.3(TPPP):c.519G>A (p.Thr173=) single nucleotide variant not provided [RCV000909869] Chr5:665243 [GRCh38]
Chr5:665358 [GRCh37]
Chr5:5p15.33
likely benign
NM_007030.3(TPPP):c.633C>T (p.Tyr211=) single nucleotide variant not provided [RCV000910273] Chr5:665129 [GRCh38]
Chr5:665244 [GRCh37]
Chr5:5p15.33
likely benign
NM_007030.3(TPPP):c.116G>C (p.Gly39Ala) single nucleotide variant not provided [RCV000946828] Chr5:677945 [GRCh38]
Chr5:678060 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 copy number loss not provided [RCV001005641] Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33
pathogenic
NC_000005.10:g.(?_218346)_(1295046_?)del deletion Idiopathic Pulmonary Fibrosis [RCV001031825] Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)dup duplication Idiopathic Pulmonary Fibrosis [RCV001031280] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 copy number loss not provided [RCV001005640] Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33
likely pathogenic
GRCh37/hg19 5p15.33(chr5:499883-1309062)x3 copy number gain not provided [RCV001258845] Chr5:499883..1309062 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 copy number loss not provided [RCV001258846] Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:481399-1021206)x3 copy number gain not provided [RCV001258847] Chr5:481399..1021206 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 copy number loss not provided [RCV001258849] Chr5:113576..1286005 [GRCh37]
Chr5:5p15.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24164 AgrOrtholog
COSMIC TPPP COSMIC
Ensembl Genes ENSG00000171368 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000353785 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000360578 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000171368 GTEx
HGNC ID HGNC:24164 ENTREZGENE
Human Proteome Map TPPP Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P25-alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPPP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11076 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11076 ENTREZGENE
OMIM 608773 OMIM
PANTHER PTHR12932 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12932:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p25-alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162406809 PharmGKB
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O94811 ENTREZGENE
  Q4L233 ENTREZGENE, UniProtKB/TrEMBL
  TPPP_HUMAN UniProtKB/Swiss-Prot