PANX1 (pannexin 1) - Rat Genome Database

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Gene: PANX1 (pannexin 1) Homo sapiens
Analyze
Symbol: PANX1
Name: pannexin 1
RGD ID: 1347653
HGNC Page HGNC
Description: Enables channel activity; identical protein binding activity; and signaling receptor binding activity. Involved in calcium ion transport and positive regulation of interleukin-1 beta production. Located in bleb; endoplasmic reticulum; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: innexin; MGC21309; MRS1; OOMD7; pannexin-1; PX1; UNQ2529
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 Ensembl1194,128,841 - 94,181,968 (+)EnsemblGRCh38hg38GRCh38
GRCh381194,128,841 - 94,185,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371193,862,007 - 93,915,134 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,501,742 - 93,554,786 (+)NCBINCBI36hg18NCBI36
Build 341193,501,741 - 93,554,783NCBI
Celera1191,149,894 - 91,202,958 (+)NCBI
Cytogenetic Map11q21NCBI
HuRef1189,937,250 - 89,990,295 (+)NCBIHuRef
CHM1_11193,745,100 - 93,798,158 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:14597722   PMID:15028292   PMID:15489334   PMID:16293724   PMID:16303743   PMID:16682648   PMID:16690868   PMID:16908669   PMID:17036048   PMID:17240370  
PMID:17715132   PMID:17925379   PMID:18029348   PMID:18596211   PMID:19056988   PMID:19150332   PMID:19213873   PMID:19946888   PMID:20086016   PMID:20516070   PMID:20622111   PMID:20628624  
PMID:20660288   PMID:20884646   PMID:20944749   PMID:21606493   PMID:21659516   PMID:21791690   PMID:21859844   PMID:21865551   PMID:21873635   PMID:22311122   PMID:22311983   PMID:22753409  
PMID:22947051   PMID:22972801   PMID:23033481   PMID:23456773   PMID:23549611   PMID:23594276   PMID:23700432   PMID:23798685   PMID:23918924   PMID:23936165   PMID:24146091   PMID:24418937  
PMID:24531690   PMID:24646995   PMID:24655807   PMID:24671093   PMID:25008946   PMID:25112874   PMID:25170954   PMID:25239622   PMID:25301060   PMID:25947940   PMID:26009197   PMID:26009198  
PMID:26054298   PMID:26098574   PMID:26186194   PMID:26223428   PMID:26242575   PMID:26385361   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26755773   PMID:26823467   PMID:27025600  
PMID:27109381   PMID:27129271   PMID:27518505   PMID:27720686   PMID:27741412   PMID:27883084   PMID:28036289   PMID:28134257   PMID:28142297   PMID:28298427   PMID:28389204   PMID:28514442  
PMID:28692057   PMID:28735901   PMID:28855161   PMID:29222846   PMID:29357945   PMID:29393654   PMID:29507755   PMID:29676177   PMID:29802622   PMID:29848662   PMID:29882918   PMID:29932112  
PMID:30061676   PMID:30377218   PMID:30442766   PMID:30639242   PMID:30814251   PMID:30918116   PMID:31056421   PMID:31110238   PMID:31211503   PMID:31242494   PMID:31278290   PMID:31410978  
PMID:31678930   PMID:31694915   PMID:31698505   PMID:32023876   PMID:32203128   PMID:32231289   PMID:32246089   PMID:32284561   PMID:32296183   PMID:32312847   PMID:32494015   PMID:32639715  
PMID:32688074   PMID:32931038   PMID:33050989   PMID:33052098   PMID:33243234   PMID:33345473   PMID:33394272   PMID:33405952   PMID:33499026   PMID:33564071   PMID:33647315   PMID:33961781  
PMID:34067798   PMID:34079125   PMID:34301959   PMID:34380770   PMID:34709727  


Genomics

Comparative Map Data
PANX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1194,128,841 - 94,181,968 (+)EnsemblGRCh38hg38GRCh38
GRCh381194,128,841 - 94,185,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371193,862,007 - 93,915,134 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,501,742 - 93,554,786 (+)NCBINCBI36hg18NCBI36
Build 341193,501,741 - 93,554,783NCBI
Celera1191,149,894 - 91,202,958 (+)NCBI
Cytogenetic Map11q21NCBI
HuRef1189,937,250 - 89,990,295 (+)NCBIHuRef
CHM1_11193,745,100 - 93,798,158 (+)NCBICHM1_1
Panx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,917,081 - 14,956,774 (-)NCBIGRCm39mm39
GRCm39 Ensembl914,913,424 - 14,956,774 (-)Ensembl
GRCm38915,005,785 - 15,045,478 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl915,002,128 - 15,045,478 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,810,229 - 14,849,922 (-)NCBIGRCm37mm9NCBIm37
MGSCv36914,756,178 - 14,795,871 (-)NCBImm8
Celera912,286,408 - 12,326,356 (-)NCBICelera
Cytogenetic Map9A2NCBI
Panx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2811,851,176 - 11,889,774 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl811,850,730 - 11,889,774 (-)Ensembl
Rnor_6.0813,567,185 - 13,606,040 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl813,566,739 - 13,606,040 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0813,508,401 - 13,547,151 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4811,809,752 - 11,849,392 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1811,809,751 - 11,849,392 (-)NCBI
Celera813,320,676 - 13,358,794 (-)NCBICelera
Cytogenetic Map8q12NCBI
Panx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955414401,188 - 448,470 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955414405,483 - 448,470 (-)NCBIChiLan1.0ChiLan1.0
PANX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11192,628,760 - 92,685,118 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1192,628,760 - 92,685,109 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01189,142,686 - 89,295,972 (+)NCBIMhudiblu_PPA_v0panPan3
PANX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1216,665,730 - 6,715,272 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl216,668,269 - 6,715,858 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha216,675,643 - 6,724,808 (-)NCBI
ROS_Cfam_1.0216,846,046 - 6,895,302 (-)NCBI
ROS_Cfam_1.0 Ensembl216,846,046 - 6,895,402 (-)Ensembl
UMICH_Zoey_3.1216,626,593 - 6,676,016 (-)NCBI
UNSW_CanFamBas_1.0216,695,903 - 6,745,264 (-)NCBI
UU_Cfam_GSD_1.0216,746,177 - 6,795,582 (-)NCBI
Panx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494779,118,039 - 79,154,514 (+)NCBI
SpeTri2.0NW_004936674736,911 - 773,406 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PANX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl926,443,815 - 26,491,002 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1926,443,425 - 26,491,010 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2930,047,789 - 30,182,476 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PANX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1185,356,507 - 85,413,146 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl185,356,610 - 85,409,275 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604340,394,937 - 40,454,501 (-)NCBIVero_WHO_p1.0
Panx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473538,766,973 - 38,823,284 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-149437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371193,908,462 - 93,908,756UniSTSGRCh37
Build 361193,548,110 - 93,548,404RGDNCBI36
Celera1191,196,282 - 91,196,576RGD
Cytogenetic Map11q21UniSTS
HuRef1189,983,619 - 89,983,913UniSTS
TNG Radiation Hybrid Map1143369.0UniSTS
WIAF-1483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371193,914,923 - 93,915,073UniSTSGRCh37
Build 361193,554,571 - 93,554,721RGDNCBI36
Celera1191,202,743 - 91,202,893RGD
Cytogenetic Map11q21UniSTS
HuRef1189,990,080 - 89,990,230UniSTS
GeneMap99-GB4 RH Map11315.21UniSTS
NCBI RH Map11791.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1195
Count of miRNA genes:496
Interacting mature miRNAs:533
Transcripts:ENST00000227638, ENST00000436171
Prediction methods:Microtar, 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 1363 1499 838 247 752 202 3169 1111 952 238 1066 1326 59 765 2059 4
Low 1076 1455 888 377 1167 263 1187 1080 2769 180 394 287 116 1 439 729 2 2
Below cutoff 37 31 6 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF398509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY048509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM201789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000227638   ⟹   ENSP00000227638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1194,128,841 - 94,181,968 (+)Ensembl
RefSeq Acc Id: ENST00000436171   ⟹   ENSP00000411461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1194,128,929 - 94,181,966 (+)Ensembl
RefSeq Acc Id: NM_015368   ⟹   NP_056183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,128,841 - 94,181,968 (+)NCBI
GRCh371193,862,094 - 93,918,762 (+)NCBI
Build 361193,501,742 - 93,554,786 (+)NCBI Archive
HuRef1189,937,250 - 89,990,295 (+)ENTREZGENE
CHM1_11193,745,100 - 93,798,158 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542734   ⟹   XP_011541036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,153,561 - 94,185,596 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017464   ⟹   XP_016872953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,129,125 - 94,185,596 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056183   ⟸   NM_015368
- UniProtKB: Q96RD7 (UniProtKB/Swiss-Prot),   A0A024R397 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541036   ⟸   XM_011542734
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016872953   ⟸   XM_017017464
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000227638   ⟸   ENST00000227638
RefSeq Acc Id: ENSP00000411461   ⟸   ENST00000436171

Promoters
RGD ID:6789201
Promoter ID:HG_KWN:13970
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015368,   UC001PEQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361193,501,459 - 93,501,959 (+)MPROMDB
RGD ID:7221831
Promoter ID:EPDNEW_H16661
Type:initiation region
Name:PANX1_1
Description:pannexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16662  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,128,874 - 94,128,934EPDNEW
RGD ID:7221833
Promoter ID:EPDNEW_H16662
Type:initiation region
Name:PANX1_2
Description:pannexin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16661  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,129,145 - 94,129,205EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
NM_015368.4(PANX1):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV000234929] Chr11:94179706 [GRCh38]
Chr11:93912872 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser) single nucleotide variant Oocyte maturation defect 7 [RCV000850136] Chr11:94180096 [GRCh38]
Chr11:93913262 [GRCh37]
Chr11:11q21
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_015368.4(PANX1):c.15A>C (p.Gln5His) single nucleotide variant not provided [RCV001665358] Chr11:94129327 [GRCh38]
Chr11:93862493 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.-21C>G single nucleotide variant not provided [RCV001645053] Chr11:94129292 [GRCh38]
Chr11:93862458 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.321+42G>C single nucleotide variant not provided [RCV001648841] Chr11:94153672 [GRCh38]
Chr11:93886838 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.99T>C (p.Ala33=) single nucleotide variant not provided [RCV000899156] Chr11:94129411 [GRCh38]
Chr11:93862577 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.*94A>G single nucleotide variant not provided [RCV001643438] Chr11:94180963 [GRCh38]
Chr11:93914129 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.868G>A (p.Val290Met) single nucleotide variant not provided [RCV000910239] Chr11:94179924 [GRCh38]
Chr11:93913090 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.1201+9T>G single nucleotide variant not provided [RCV000916590] Chr11:94180266 [GRCh38]
Chr11:93913432 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.465G>C (p.Lys155Asn) single nucleotide variant not provided [RCV000965219] Chr11:94178512 [GRCh38]
Chr11:93911678 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.81G>T (p.Gly27=) single nucleotide variant not provided [RCV000963285] Chr11:94129393 [GRCh38]
Chr11:93862559 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del) deletion Oocyte maturation defect 7 [RCV000850138] Chr11:94129366..94129374 [GRCh38]
Chr11:93862532..93862540 [GRCh37]
Chr11:11q21
pathogenic
NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter) single nucleotide variant Oocyte maturation defect 7 [RCV000850135] Chr11:94180230 [GRCh38]
Chr11:93913396 [GRCh37]
Chr11:11q21
pathogenic
NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu) single nucleotide variant Oocyte maturation defect 7 [RCV000850137] Chr11:94180092 [GRCh38]
Chr11:93913258 [GRCh37]
Chr11:11q21
pathogenic
NM_015368.4(PANX1):c.1170G>T (p.Glu390Asp) single nucleotide variant not provided [RCV001713409] Chr11:94180226 [GRCh38]
Chr11:93913392 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1202-265C>T single nucleotide variant not provided [RCV001651568] Chr11:94180525 [GRCh38]
Chr11:93913691 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.546-148C>T single nucleotide variant not provided [RCV001689003] Chr11:94179454 [GRCh38]
Chr11:93912620 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.-223CCGCC[3] microsatellite not provided [RCV001681661] Chr11:94129089..94129093 [GRCh38]
Chr11:93862255..93862259 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1202-264T>C single nucleotide variant not provided [RCV001656262] Chr11:94180526 [GRCh38]
Chr11:93913692 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.-459C>T single nucleotide variant not provided [RCV001616136] Chr11:94128854 [GRCh38]
Chr11:93862020 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.546-130A>G single nucleotide variant not provided [RCV001674895] Chr11:94179472 [GRCh38]
Chr11:93912638 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1133T>C (p.Val378Ala) single nucleotide variant not provided [RCV000901256] Chr11:94180189 [GRCh38]
Chr11:93913355 [GRCh37]
Chr11:11q21
likely benign
NM_015368.4(PANX1):c.1187C>T (p.Thr396Met) single nucleotide variant not provided [RCV000956992] Chr11:94180243 [GRCh38]
Chr11:93913409 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.814A>G (p.Ile272Val) single nucleotide variant not provided [RCV001660834] Chr11:94179870 [GRCh38]
Chr11:93913036 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.1201+69T>C single nucleotide variant not provided [RCV001620788] Chr11:94180326 [GRCh38]
Chr11:93913492 [GRCh37]
Chr11:11q21
benign
GRCh37/hg19 11q21(chr11:93297444-94041273)x3 copy number gain not provided [RCV001006434] Chr11:93297444..94041273 [GRCh37]
Chr11:11q21
uncertain significance
NM_015368.4(PANX1):c.1201+35T>C single nucleotide variant not provided [RCV001651800] Chr11:94180292 [GRCh38]
Chr11:93913458 [GRCh37]
Chr11:11q21
benign
NM_015368.4(PANX1):c.545+98C>T single nucleotide variant not provided [RCV001616948] Chr11:94178690 [GRCh38]
Chr11:93911856 [GRCh37]
Chr11:11q21
benign
Single allele single nucleotide variant not provided [RCV001652065] Chr11:94128631 [GRCh38]
Chr11:93861797 [GRCh37]
Chr11:11q21
benign
GRCh37/hg19 11q21(chr11:93676223-94342737)x3 copy number gain not provided [RCV001260146] Chr11:93676223..94342737 [GRCh37]
Chr11:11q21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8599 AgrOrtholog
COSMIC PANX1 COSMIC
Ensembl Genes ENSG00000110218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000227638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411461 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000227638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000436171 UniProtKB/Swiss-Prot
GTEx ENSG00000110218 GTEx
HGNC ID HGNC:8599 ENTREZGENE
Human Proteome Map PANX1 Human Proteome Map
InterPro Innexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pannexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:24145 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 24145 ENTREZGENE
OMIM 608420 OMIM
  618550 OMIM
PANTHER PTHR15759 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Innexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32929 PharmGKB
PROSITE PANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R397 ENTREZGENE, UniProtKB/TrEMBL
  B6ETL5_HUMAN UniProtKB/TrEMBL
  PANX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O75968 UniProtKB/Swiss-Prot
  Q543A0 UniProtKB/Swiss-Prot
  Q6UW26 UniProtKB/Swiss-Prot
  Q96AM9 UniProtKB/Swiss-Prot
  Q96L77 UniProtKB/Swiss-Prot
  Q96RS5 UniProtKB/Swiss-Prot