WBP2NL (WBP2 N-terminal like) - Rat Genome Database

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Gene: WBP2NL (WBP2 N-terminal like) Homo sapiens
Analyze
Symbol: WBP2NL
Name: WBP2 N-terminal like
RGD ID: 1604730
HGNC Page HGNC
Description: Predicted to enable WW domain binding activity; chromatin DNA binding activity; and transcription coactivator activity. Predicted to be involved in egg activation; male pronucleus assembly; and positive regulation of transcription, DNA-templated. Located in sperm flagellum and sperm head.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ26145; GRAMD7; MGC26816; PAWP; postacrosomal sheath WW domain-binding protein; WW domain-binding protein 2-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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 Ensembl2241,998,725 - 42,058,456 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,995,103 - 42,059,402 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,394,792 - 42,424,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,724,738 - 40,754,425 (+)NCBINCBI36hg18NCBI36
Celera2226,200,953 - 26,230,676 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,360,930 - 25,390,655 (+)NCBIHuRef
CHM1_12242,354,919 - 42,384,632 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15461802   PMID:16344560   PMID:17289678   PMID:21873635   PMID:24528284   PMID:24907910   PMID:25056061   PMID:25417742   PMID:25722320   PMID:26116451   PMID:26186194  
PMID:26721930   PMID:27089467   PMID:28076980   PMID:28444612   PMID:28514442   PMID:28954204   PMID:29271520   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
WBP2NL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,998,725 - 42,058,456 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,995,103 - 42,059,402 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,394,792 - 42,424,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,724,738 - 40,754,425 (+)NCBINCBI36hg18NCBI36
Celera2226,200,953 - 26,230,676 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,360,930 - 25,390,655 (+)NCBIHuRef
CHM1_12242,354,919 - 42,384,632 (+)NCBICHM1_1
Wbp2nl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,183,126 - 82,198,848 (+)NCBIGRCm39mm39
GRCm39 Ensembl1582,183,155 - 82,198,824 (+)Ensembl
GRCm381582,298,925 - 82,314,647 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,298,954 - 82,314,623 (+)EnsemblGRCm38mm10GRCm38
MGSCv371582,129,414 - 82,144,988 (+)NCBIGRCm37mm9NCBIm37
MGSCv361582,126,719 - 82,142,107 (+)NCBImm8
Celera1584,423,079 - 84,438,650 (+)NCBICelera
Cytogenetic Map15E1NCBI
Wbp2nl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,814,793 - 113,831,974 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,814,992 - 113,831,333 (+)Ensembl
Rnor_6.07123,531,657 - 123,548,574 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,531,682 - 123,548,081 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,516,366 - 123,533,289 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,674,629 - 120,689,938 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7110,129,903 - 110,146,820 (+)NCBICelera
Cytogenetic Map7q34NCBI
Wbp2nl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,402,545 - 27,436,906 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,402,614 - 27,442,106 (+)NCBIChiLan1.0ChiLan1.0
WBP2NL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,974,715 - 41,008,296 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,974,715 - 41,004,007 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,891,166 - 22,926,920 (+)NCBIMhudiblu_PPA_v0panPan3
WBP2NL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,333,420 - 23,368,234 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,344,094 - 23,368,153 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,267,499 - 23,302,315 (-)NCBI
ROS_Cfam_1.01024,077,925 - 24,112,940 (-)NCBI
UMICH_Zoey_3.11023,795,297 - 23,830,271 (-)NCBI
UNSW_CanFamBas_1.01024,116,424 - 24,151,255 (-)NCBI
UU_Cfam_GSD_1.01024,290,357 - 24,325,371 (-)NCBI
LOC101960563
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049456,999,791 - 7,000,591 (-)NCBI
SpeTri2.0NW_00493649210,208 - 13,477 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WBP2NL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,533,727 - 24,573,482 (+)NCBI
ChlSab1.1 Ensembl1924,554,895 - 24,567,023 (+)Ensembl
Vero_WHO_p1.0NW_023666045100,834,032 - 100,875,955 (-)NCBI
Wbp2nl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,689,501 - 6,736,053 (-)NCBI

Position Markers
D22S1261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,393,997 - 42,394,221UniSTSGRCh37
Build 362240,723,943 - 40,724,167RGDNCBI36
Celera2226,200,221 - 26,200,445RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,360,198 - 25,360,422UniSTS
GeneMap99-GB4 RH Map22136.98UniSTS
Whitehead-RH Map22158.5UniSTS
D22S410E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,394,023 - 42,394,112UniSTSGRCh37
Build 362240,723,969 - 40,724,058RGDNCBI36
Celera2226,200,247 - 26,200,336RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,360,224 - 25,360,313UniSTS
AL008657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,412,883 - 42,413,020UniSTSGRCh37
Build 362240,742,829 - 40,742,966RGDNCBI36
Celera2226,219,101 - 26,219,238RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,379,081 - 25,379,218UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2609
Count of miRNA genes:1116
Interacting mature miRNAs:1366
Transcripts:ENST00000328823, ENST00000329620, ENST00000412113, ENST00000436265, ENST00000445185, ENST00000461730, ENST00000470812, ENST00000475341, ENST00000487176, ENST00000543212
Prediction methods:Microtar, 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 1 1 337
Low 737 82 1055 158 787 67 1719 184 2464 189 827 1183 98 1 209 1153 2 2
Below cutoff 1683 2869 661 456 1126 388 2571 1991 1261 222 280 412 76 995 1631 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_152613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF393575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB079211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328823   ⟹   ENSP00000332983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,788 - 42,028,475 (+)Ensembl
RefSeq Acc Id: ENST00000329620   ⟹   ENSP00000328800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,725 - 42,032,929 (+)Ensembl
RefSeq Acc Id: ENST00000412113   ⟹   ENSP00000389598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,725 - 42,032,769 (+)Ensembl
RefSeq Acc Id: ENST00000436265   ⟹   ENSP00000401002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,772 - 42,058,456 (+)Ensembl
RefSeq Acc Id: ENST00000445185   ⟹   ENSP00000400236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,793 - 42,026,794 (+)Ensembl
RefSeq Acc Id: ENST00000461730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,793 - 42,003,463 (+)Ensembl
RefSeq Acc Id: ENST00000470812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,030,546 - 42,032,931 (+)Ensembl
RefSeq Acc Id: ENST00000475341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,998,788 - 42,027,040 (+)Ensembl
RefSeq Acc Id: ENST00000487176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,027,163 - 42,032,769 (+)Ensembl
RefSeq Acc Id: ENST00000543212   ⟹   ENSP00000442447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,019,713 - 42,032,650 (+)Ensembl
RefSeq Acc Id: NM_152613   ⟹   NP_689826
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,998,788 - 42,028,475 (+)NCBI
GRCh372242,391,607 - 42,428,935 (+)NCBI
Build 362240,724,738 - 40,754,425 (+)NCBI Archive
Celera2226,200,953 - 26,230,676 (+)RGD
HuRef2225,360,930 - 25,390,655 (+)RGD
CHM1_12242,354,919 - 42,384,632 (+)NCBI
Sequence:
RefSeq Acc Id: XR_244353
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,995,103 - 42,032,769 (+)NCBI
GRCh372242,391,607 - 42,428,935 (+)NCBI
Sequence:
RefSeq Acc Id: XR_244354
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,995,103 - 42,032,931 (+)NCBI
GRCh372242,391,607 - 42,428,935 (+)NCBI
Sequence:
RefSeq Acc Id: XR_430402
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,019,311 - 42,032,931 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937827
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,995,103 - 42,032,931 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937828
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,995,103 - 42,059,402 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937829
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,995,103 - 42,058,456 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937830
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,995,103 - 42,032,931 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689826   ⟸   NM_152613
- UniProtKB: Q6ICG8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000442447   ⟸   ENST00000543212
RefSeq Acc Id: ENSP00000389598   ⟸   ENST00000412113
RefSeq Acc Id: ENSP00000400236   ⟸   ENST00000445185
RefSeq Acc Id: ENSP00000332983   ⟸   ENST00000328823
RefSeq Acc Id: ENSP00000328800   ⟸   ENST00000329620
RefSeq Acc Id: ENSP00000401002   ⟸   ENST00000436265
Protein Domains
GRAM

Promoters
RGD ID:6800485
Promoter ID:HG_KWN:43038
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000328823,   ENST00000329620,   OTTHUMT00000322039,   OTTHUMT00000322040,   OTTHUMT00000322041,   OTTHUMT00000322042,   OTTHUMT00000322043
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,724,431 - 40,724,931 (+)MPROMDB
RGD ID:13604300
Promoter ID:EPDNEW_H28334
Type:initiation region
Name:WBP2NL_1
Description:WBP2 N-terminal like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,998,802 - 41,998,862EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000262.3(NAGA):c.*1299C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000380526]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000269614] Chr22:42058980 [GRCh38]
Chr22:42454984 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_000262.3(NAGA):c.*1929C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000382486]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000288226] Chr22:42058350 [GRCh38]
Chr22:42454354 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.*1789del deletion Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000349138]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000313100] Chr22:42058490 [GRCh38]
Chr22:42454494 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 copy number gain See cases [RCV000142720] Chr22:41764466..41998153 [GRCh38]
Chr22:42160470..42394157 [GRCh37]
Chr22:40490416..40724103 [NCBI36]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1035G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000387189]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000295309] Chr22:42059244 [GRCh38]
Chr22:42455248 [GRCh37]
Chr22:22q13.2
benign|likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000262.3(NAGA):c.*1252T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000383874]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000327051] Chr22:42059027 [GRCh38]
Chr22:42455031 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1696C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000260311]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000355090] Chr22:42058583 [GRCh38]
Chr22:42454587 [GRCh37]
Chr22:22q13.2
benign|uncertain significance
NM_000262.3(NAGA):c.*926C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000352562]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000397719] Chr22:42059353 [GRCh38]
Chr22:42455357 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1090G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000291933]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000349008] Chr22:42059189 [GRCh38]
Chr22:42455193 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1333T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000266251]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000323621] Chr22:42058946 [GRCh38]
Chr22:42454950 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_000262.3(NAGA):c.*1814C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000395216]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000347831] Chr22:42058465 [GRCh38]
Chr22:42454469 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.*1501C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000301495]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000358679] Chr22:42058778 [GRCh38]
Chr22:42454782 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1788_*1789del deletion Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000399400]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000314331] Chr22:42058490..42058491 [GRCh38]
Chr22:42454494..42454495 [GRCh37]
Chr22:22q13.2
benign
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_000262.3(NAGA):c.*1103T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001147378]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001147377] Chr22:42059176 [GRCh38]
Chr22:42455180 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.*1930G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001148196]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001148197] Chr22:42058349 [GRCh38]
Chr22:42454353 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.*1862C>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001148198]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149753] Chr22:42058417 [GRCh38]
Chr22:42454421 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1724C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001149755]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149754] Chr22:42058555 [GRCh38]
Chr22:42454559 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_000262.3(NAGA):c.*1555C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001149756]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145432] Chr22:42058724 [GRCh38]
Chr22:42454728 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1311T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145435]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001147376] Chr22:42058968 [GRCh38]
Chr22:42454972 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.*1484A>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145433]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145434] Chr22:42058795 [GRCh38]
Chr22:42454799 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3 copy number gain not provided [RCV001258784] Chr22:42158393..42409550 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28389 AgrOrtholog
COSMIC WBP2NL COSMIC
Ensembl Genes ENSG00000183066 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000328800 UniProtKB/Swiss-Prot
  ENSP00000332983 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389598 UniProtKB/TrEMBL
  ENSP00000400236 UniProtKB/TrEMBL
  ENSP00000401002 UniProtKB/Swiss-Prot
  ENSP00000442447 UniProtKB/TrEMBL
Ensembl Transcript ENST00000328823 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000329620 UniProtKB/Swiss-Prot
  ENST00000412113 UniProtKB/TrEMBL
  ENST00000436265 UniProtKB/Swiss-Prot
  ENST00000445185 UniProtKB/TrEMBL
  ENST00000543212 UniProtKB/TrEMBL
GTEx ENSG00000183066 GTEx
HGNC ID HGNC:28389 ENTREZGENE
Human Proteome Map WBP2NL Human Proteome Map
InterPro GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WBP2NL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:164684 UniProtKB/Swiss-Prot
NCBI Gene 164684 ENTREZGENE
OMIM 610981 OMIM
PANTHER PTHR31606:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145147710 PharmGKB
UniProt F5H7L2_HUMAN UniProtKB/TrEMBL
  F8WCF8_HUMAN UniProtKB/TrEMBL
  F8WDR4_HUMAN UniProtKB/TrEMBL
  L8E9M8_HUMAN UniProtKB/TrEMBL
  Q6ICG8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A3KFF7 UniProtKB/Swiss-Prot
  A8MSG5 UniProtKB/Swiss-Prot
  B3KXX4 UniProtKB/Swiss-Prot
  Q8TBF0 UniProtKB/Swiss-Prot
  Q8TBF3 UniProtKB/Swiss-Prot