THAP4 (THAP domain containing 4) - Rat Genome Database

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Gene: THAP4 (THAP domain containing 4) Homo sapiens
Analyze
Symbol: THAP4
Name: THAP domain containing 4
RGD ID: 1342863
HGNC Page HGNC
Description: Enables several functions, including heme binding activity; identical protein binding activity; and peroxynitrite isomerase activity. Involved in nitrate metabolic process and tyrosine metabolic process. Predicted to be located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CGI-36; ferric Homo sapiens nitrobindin; hs-Nb(III); Nb(III); nitrobindin; peroxynitrite isomerase THAP4; PP238; THAP domain-containing protein 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,584,405 - 241,637,158 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,584,405 - 241,637,543 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,523,820 - 242,576,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,172,493 - 242,225,328 (-)NCBINCBI36hg18NCBI36
Celera2236,191,554 - 236,248,451 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2234,277,652 - 234,329,989 (-)NCBIHuRef
CHM1_12242,529,419 - 242,582,861 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10810093   PMID:12477932   PMID:12575992   PMID:14702039   PMID:15489334   PMID:15498874   PMID:15815621   PMID:16169070   PMID:19274049   PMID:20171287   PMID:21244100  
PMID:21387410   PMID:21832049   PMID:21900206   PMID:22939624   PMID:23535732   PMID:26186194   PMID:28514442   PMID:28611215   PMID:29117863   PMID:29509190   PMID:30021884   PMID:30524950  
PMID:30561431   PMID:30804502   PMID:31391242   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
THAP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,584,405 - 241,637,158 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,584,405 - 241,637,543 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,523,820 - 242,576,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,172,493 - 242,225,328 (-)NCBINCBI36hg18NCBI36
Celera2236,191,554 - 236,248,451 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2234,277,652 - 234,329,989 (-)NCBIHuRef
CHM1_12242,529,419 - 242,582,861 (-)NCBICHM1_1
Thap4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,633,113 - 93,682,560 (-)NCBIGRCm39mm39
GRCm39 Ensembl193,629,657 - 93,682,586 (-)Ensembl
GRCm38193,705,391 - 93,754,838 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,701,935 - 93,754,864 (-)EnsemblGRCm38mm10GRCm38
MGSCv37195,601,968 - 95,651,415 (-)NCBIGRCm37mm9NCBIm37
MGSCv36195,535,797 - 95,585,244 (-)NCBImm8
MGSCv36194,158,268 - 94,207,849 (-)NCBImm8
Celera196,650,530 - 96,699,008 (-)NCBICelera
Cytogenetic Map1DNCBI
Thap4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2994,242,581 - 94,282,312 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl994,242,581 - 94,282,306 (-)Ensembl
Rnor_6.09100,848,597 - 100,888,107 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9100,848,598 - 100,888,107 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09100,501,661 - 100,541,256 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,989,072 - 93,031,408 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1993,193,841 - 93,236,177 (-)NCBI
Celera991,777,055 - 91,816,491 (-)NCBICelera
Cytogenetic Map9q36NCBI
Thap4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542195,088 - 217,831 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955542192,888 - 217,985 (+)NCBIChiLan1.0ChiLan1.0
THAP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B247,650,249 - 247,684,576 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B247,650,249 - 247,701,219 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B128,858,512 - 128,913,474 (-)NCBIMhudiblu_PPA_v0panPan3
THAP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12551,456,349 - 51,480,753 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,456,344 - 51,494,367 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,674,803 - 51,713,677 (-)NCBI
ROS_Cfam_1.02551,654,937 - 51,693,321 (-)NCBI
ROS_Cfam_1.0 Ensembl2551,654,925 - 51,693,318 (-)Ensembl
UMICH_Zoey_3.12551,504,264 - 51,543,189 (-)NCBI
UNSW_CanFamBas_1.02551,244,160 - 51,282,359 (-)NCBI
UU_Cfam_GSD_1.02551,520,478 - 51,559,045 (-)NCBI
Thap4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,881,163 - 192,902,172 (-)NCBI
SpeTri2.0NW_004936745324,988 - 338,257 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THAP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15140,185,680 - 140,223,477 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115140,190,198 - 140,223,454 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215154,825,625 - 154,838,103 (-)NCBISscrofa10.2Sscrofa10.2susScr3
THAP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,643,567 - 127,689,582 (-)NCBIChlSab1.1chlSab2
ChlSab1.110127,643,567 - 127,689,582 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl10127,643,102 - 127,689,377 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604071,633,005 - 71,678,844 (+)NCBIVero_WHO_p1.0
Thap4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248475,579,521 - 5,605,447 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D2S2817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,523,941 - 242,524,032UniSTSGRCh37
Build 362242,172,614 - 242,172,705RGDNCBI36
Celera2236,191,675 - 236,191,766RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,277,773 - 234,277,864UniSTS
Stanford-G3 RH Map29372.0UniSTS
GeneMap99-G3 RH Map210211.0UniSTS
A003A42  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,523,872 - 242,524,024UniSTSGRCh37
Build 362242,172,545 - 242,172,697RGDNCBI36
Celera2236,191,606 - 236,191,758RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,277,704 - 234,277,856UniSTS
GeneMap99-GB4 RH Map2747.4UniSTS
NCBI RH Map21915.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1018
Count of miRNA genes:443
Interacting mature miRNAs:484
Transcripts:ENST00000321679, ENST00000402136, ENST00000402545, ENST00000407315, ENST00000497486
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2431 2477 1686 588 1492 430 4354 2134 3511 416 1446 1607 171 1204 2788 3
Low 8 514 40 36 457 35 2 61 217 3 9 6 4 1 2 2
Below cutoff 1 1 5 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001164356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC133528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX405245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000321679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,420 - 241,602,170 (-)Ensembl
RefSeq Acc Id: ENST00000402136   ⟹   ENSP00000385931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,405 - 241,617,501 (-)Ensembl
RefSeq Acc Id: ENST00000402545   ⟹   ENSP00000384352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,427 - 241,617,490 (-)Ensembl
RefSeq Acc Id: ENST00000407315   ⟹   ENSP00000385006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,405 - 241,637,158 (-)Ensembl
RefSeq Acc Id: ENST00000497486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,591,951 - 241,602,994 (-)Ensembl
RefSeq Acc Id: ENST00000612200   ⟹   ENSP00000482312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,428 - 241,633,364 (-)Ensembl
RefSeq Acc Id: NM_001164356   ⟹   NP_001157828
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,584,405 - 241,617,492 (-)NCBI
GRCh372242,523,820 - 242,576,753 (-)NCBI
Celera2236,191,554 - 236,248,451 (-)RGD
HuRef2234,277,652 - 234,329,989 (-)RGD
CHM1_12242,529,419 - 242,563,052 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015963   ⟹   NP_057047
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,584,405 - 241,637,158 (-)NCBI
GRCh372242,523,820 - 242,576,753 (-)NCBI
Build 362242,172,493 - 242,225,328 (-)NCBI Archive
Celera2236,191,554 - 236,248,451 (-)RGD
HuRef2234,277,652 - 234,329,989 (-)RGD
CHM1_12242,529,419 - 242,582,861 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247016   ⟹   XP_005247073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,584,405 - 241,637,543 (-)NCBI
GRCh372242,523,820 - 242,576,753 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511291   ⟹   XP_011509593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,584,405 - 241,637,533 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004256   ⟹   XP_016859745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,584,405 - 241,637,525 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057047   ⟸   NM_015963
- Peptide Label: isoform 1
- UniProtKB: Q8WY91 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157828   ⟸   NM_001164356
- Peptide Label: isoform 2
- UniProtKB: Q8WY91 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247073   ⟸   XM_005247016
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509593   ⟸   XM_011511291
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859745   ⟸   XM_017004256
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000482312   ⟸   ENST00000612200
RefSeq Acc Id: ENSP00000385931   ⟸   ENST00000402136
RefSeq Acc Id: ENSP00000384352   ⟸   ENST00000402545
RefSeq Acc Id: ENSP00000385006   ⟸   ENST00000407315
Protein Domains
DUF1794

Promoters
RGD ID:6863366
Promoter ID:EPDNEW_H4848
Type:initiation region
Name:THAP4_1
Description:THAP domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4850  EPDNEW_H4849  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,617,476 - 241,617,536EPDNEW
RGD ID:6863496
Promoter ID:EPDNEW_H4849
Type:initiation region
Name:THAP4_2
Description:THAP domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4848  EPDNEW_H4850  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,637,092 - 241,637,152EPDNEW
RGD ID:6863370
Promoter ID:EPDNEW_H4850
Type:initiation region
Name:THAP4_3
Description:THAP domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4848  EPDNEW_H4849  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,637,546 - 241,637,606EPDNEW
RGD ID:6798316
Promoter ID:HG_KWN:38229
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000402136,   ENST00000402545
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,205,556 - 242,206,107 (-)MPROMDB
RGD ID:6798315
Promoter ID:HG_KWN:38230
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407315
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,224,901 - 242,225,401 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1 copy number loss See cases [RCV000050955] Chr2:241582713..242065208 [GRCh38]
Chr2:242522128..243007359 [GRCh37]
Chr2:242170801..242656032 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705] Chr2:241179464..242065349 [GRCh38]
Chr2:242118879..243007500 [GRCh37]
Chr2:241767552..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 copy number loss See cases [RCV000052706] Chr2:241249295..242086301 [GRCh38]
Chr2:242188710..243028452 [GRCh37]
Chr2:241837383..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|See cases [RCV000052707] Chr2:241179664..242065208 [GRCh38]
Chr2:242119079..243007359 [GRCh37]
Chr2:241767752..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 copy number gain See cases [RCV000052980] Chr2:240910571..242126392 [GRCh38]
Chr2:241849988..243059659 [GRCh37]
Chr2:241498661..242717216 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3 copy number gain See cases [RCV000133843] Chr2:241522479..242126245 [GRCh38]
Chr2:242461894..243059659 [GRCh37]
Chr2:242110567..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1 copy number loss See cases [RCV000134170] Chr2:241481406..242126245 [GRCh38]
Chr2:242420821..243059659 [GRCh37]
Chr2:242069494..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1 copy number loss See cases [RCV000141625] Chr2:241565848..242110155 [GRCh38]
Chr2:242505263..243052306 [GRCh37]
Chr2:242153936..242700979 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242416476-242783384)x1 copy number loss See cases [RCV000446678] Chr2:242416476..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242539054-242783384)x3 copy number gain See cases [RCV000447061] Chr2:242539054..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 copy number loss See cases [RCV000448540] Chr2:242045569..243040217 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242305098-242783384)x3 copy number gain See cases [RCV000510462] Chr2:242305098..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3 copy number gain See cases [RCV000512463] Chr2:241997911..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 copy number loss not provided [RCV000682102] Chr2:242016876..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 copy number loss not provided [RCV000682110] Chr2:241810311..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 copy number loss not provided [RCV000741039] Chr2:241847589..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242560241-242838636)x3 copy number gain not provided [RCV000741052] Chr2:242560241..242838636 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1 copy number loss not provided [RCV001005387] Chr2:241880799..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242340265-242783384)x1 copy number loss not provided [RCV001005390] Chr2:242340265..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 copy number loss not provided [RCV000997728] Chr2:241404033..242684292 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 copy number loss not provided [RCV001005388] Chr2:242011633..243199373 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_241808273)_(242708241_?)del deletion not provided [RCV001031165] Chr2:241808273..242708241 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242471243-242760670)x3 copy number gain not provided [RCV001259193] Chr2:242471243..242760670 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23187 AgrOrtholog
COSMIC THAP4 COSMIC
Ensembl Genes ENSG00000176946 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000384352 UniProtKB/TrEMBL
  ENSP00000385006 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385931 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482312 UniProtKB/TrEMBL
Ensembl Transcript ENST00000402136 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402545 UniProtKB/TrEMBL
  ENST00000407315 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612200 UniProtKB/TrEMBL
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.210.20 UniProtKB/Swiss-Prot
GTEx ENSG00000176946 GTEx
HGNC ID HGNC:23187 ENTREZGENE
Human Proteome Map THAP4 Human Proteome Map
InterPro Calycin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1794 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THAP_Znf UniProtKB/Swiss-Prot
  THAP_Znf_sf UniProtKB/Swiss-Prot
KEGG Report hsa:51078 UniProtKB/Swiss-Prot
NCBI Gene 51078 ENTREZGENE
OMIM 612533 OMIM
Pfam DUF1794 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THAP UniProtKB/Swiss-Prot
PharmGKB PA134864723 PharmGKB
PROSITE ZF_THAP UniProtKB/Swiss-Prot
SMART DM3 UniProtKB/Swiss-Prot
  THAP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5MCC0_HUMAN UniProtKB/TrEMBL
  Q8WY91 ENTREZGENE
  Q9BQ29_HUMAN UniProtKB/TrEMBL
  THAP4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D6RGW3 UniProtKB/TrEMBL
  Q53NU7 UniProtKB/Swiss-Prot
  Q6GRN0 UniProtKB/Swiss-Prot
  Q6IPJ3 UniProtKB/Swiss-Prot
  Q9NW26 UniProtKB/Swiss-Prot
  Q9Y325 UniProtKB/Swiss-Prot