PABIR1 (PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1) - Rat Genome Database

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Gene: PABIR1 (PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1) Homo sapiens
Analyze
Symbol: PABIR1
Name: PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
RGD ID: 1321149
HGNC Page HGNC:23490
Description: Enables protein serine/threonine phosphatase inhibitor activity. Involved in mitotic G2/M transition checkpoint; positive regulation of cell growth; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytoplasm and nuclear body.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf42; FAM122A; family with sequence similarity 122A; hypothetical protein LOC116224; MGC17347; PABIR family member 1; PPP2R1A-PPP2R2A-interacting phosphatase regulator 1
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
GRCh38968,780,065 - 68,785,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl968,780,065 - 68,785,566 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,394,981 - 71,400,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,584,784 - 70,588,429 (+)NCBINCBI36Build 36hg18NCBI36
Build 34968,624,517 - 68,628,163NCBI
Celera941,990,151 - 41,993,796 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,240,535 - 41,244,180 (+)NCBIHuRef
CHM1_1971,542,188 - 71,545,833 (+)NCBICHM1_1
T2T-CHM13v2.0980,953,589 - 80,959,090 (+)NCBIT2T-CHM13v2.0
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
cytoplasm  (IBA,IDA,IEA)
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889549   PMID:10737800   PMID:12107410   PMID:14702039   PMID:15164053   PMID:15489334   PMID:17081983   PMID:17207965   PMID:19156129   PMID:20383146   PMID:21044950   PMID:21832049  
PMID:21873635   PMID:25735772   PMID:26186194   PMID:26496610   PMID:26673895   PMID:27588481   PMID:27880917   PMID:28330616   PMID:28514442   PMID:29678583   PMID:32354864   PMID:32694731  
PMID:32763160   PMID:32866497   PMID:33108758   PMID:33262527   PMID:33961781   PMID:36931259   PMID:37689310  


Genomics

Comparative Map Data
PABIR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38968,780,065 - 68,785,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl968,780,065 - 68,785,566 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,394,981 - 71,400,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,584,784 - 70,588,429 (+)NCBINCBI36Build 36hg18NCBI36
Build 34968,624,517 - 68,628,163NCBI
Celera941,990,151 - 41,993,796 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,240,535 - 41,244,180 (+)NCBIHuRef
CHM1_1971,542,188 - 71,545,833 (+)NCBICHM1_1
T2T-CHM13v2.0980,953,589 - 80,959,090 (+)NCBIT2T-CHM13v2.0
Pabir1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,451,270 - 24,454,819 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1924,453,866 - 24,454,720 (-)EnsemblGRCm39 Ensembl
GRCm381924,475,779 - 24,477,474 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,476,502 - 24,477,356 (-)EnsemblGRCm38mm10GRCm38
MGSCv371924,550,269 - 24,551,964 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361924,542,874 - 24,544,571 (-)NCBIMGSCv36mm8
Celera1925,245,132 - 25,246,827 (-)NCBICelera
Cytogenetic Map19BNCBI
cM Map1919.53NCBI
Pabir1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81231,541,411 - 231,542,717 (-)NCBIGRCr8
mRatBN7.21222,114,988 - 222,116,294 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1222,112,591 - 222,116,396 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1230,569,504 - 230,570,810 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01237,499,564 - 237,500,870 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01230,317,572 - 230,318,878 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01242,372,458 - 242,373,764 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1242,372,458 - 242,373,764 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01249,645,665 - 249,646,971 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,891,961 - 227,893,267 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11228,055,985 - 228,057,290 (-)NCBI
Celera1219,325,874 - 219,327,180 (-)NCBICelera
Cytogenetic Map1q51NCBI
Pabir1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554344,250,105 - 4,251,508 (-)NCBIChiLan1.0ChiLan1.0
PABIR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21167,990,179 - 67,994,514 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1967,996,121 - 67,997,502 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0956,007,323 - 56,011,655 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1967,544,336 - 67,548,928 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl967,544,489 - 67,545,352 (+)Ensemblpanpan1.1panPan2
PABIR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1188,580,008 - 88,587,037 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha189,051,624 - 89,054,254 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0189,130,513 - 89,133,147 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1188,775,055 - 88,782,390 (-)NCBIUMICH_Zoey_3.1
UU_Cfam_GSD_1.0189,251,913 - 89,254,544 (-)NCBIUU_Cfam_GSD_1.0
Pabir1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947136,069,528 - 136,077,031 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365035,096,112 - 5,096,963 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365035,095,986 - 5,097,274 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PABIR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11222,114,314 - 222,122,337 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21248,522,179 - 248,524,787 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PABIR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11279,877,288 - 79,879,862 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1279,877,416 - 79,878,279 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603868,283,246 - 68,287,889 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pabir1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247364,340,195 - 4,341,058 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247364,333,707 - 4,341,205 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PABIR1
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 copy number loss See cases [RCV000052904] Chr9:68426796..69606104 [GRCh38]
Chr9:71130848..72221020 [GRCh37]
Chr9:70231532..71410840 [NCBI36]
Chr9:9q21.11-21.12		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12		 likely pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3 copy number gain See cases [RCV000240188] Chr9:71395668..71944494 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71395537-71967664)x3 copy number gain See cases [RCV000511186] Chr9:71395537..71967664 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.398C>G (p.Ser133Cys) single nucleotide variant Inborn genetic diseases [RCV003279478] Chr9:68780562 [GRCh38]
Chr9:71395478 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3 copy number gain not provided [RCV000847751] Chr9:71221738..71660766 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.-68C>G single nucleotide variant not provided [RCV000949536] Chr9:68780097 [GRCh38]
Chr9:71395013 [GRCh37]
Chr9:9q21.11		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_138333.5(PABIR1):c.32A>G (p.Glu11Gly) single nucleotide variant Inborn genetic diseases [RCV003241919] Chr9:68780196 [GRCh38]
Chr9:71395112 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13		 uncertain significance
NM_138333.5(PABIR1):c.706G>T (p.Gly236Cys) single nucleotide variant Inborn genetic diseases [RCV003211610] Chr9:68780870 [GRCh38]
Chr9:71395786 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_138333.5(PABIR1):c.196C>T (p.Pro66Ser) single nucleotide variant Inborn genetic diseases [RCV003363806] Chr9:68780360 [GRCh38]
Chr9:71395276 [GRCh37]
Chr9:9q21.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:928
Count of miRNA genes:628
Interacting mature miRNAs:691
Transcripts:ENST00000394264
Prediction methods:Miranda, 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.

Markers in Region
A009P17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,396,877 - 71,397,142UniSTSGRCh37
Build 36970,586,697 - 70,586,962RGDNCBI36
Celera941,992,064 - 41,992,329RGD
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,242,448 - 41,242,713UniSTS
GeneMap99-GB4 RH Map9233.1UniSTS
NCBI RH Map9653.8UniSTS
G60071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,397,563 - 71,397,887UniSTSGRCh37
Build 36970,587,383 - 70,587,707RGDNCBI36
Celera941,992,750 - 41,993,074RGD
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,243,134 - 41,243,458UniSTS
TNG Radiation Hybrid Map922584.0UniSTS
WIAF-1634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,397,707 - 71,397,821UniSTSGRCh37
Build 36970,587,527 - 70,587,641RGDNCBI36
Celera941,992,894 - 41,993,008RGD
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,243,278 - 41,243,392UniSTS
GeneMap99-GB4 RH Map9237.09UniSTS
NCBI RH Map9653.8UniSTS
G32732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,396,877 - 71,397,142UniSTSGRCh37
Celera941,992,064 - 41,992,329UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map9q13UniSTS
HuRef941,242,448 - 41,242,713UniSTS


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 1703 1484 1272 250 1092 117 3353 847 1537 267 1299 1443 147 1 1071 1967 5 2
Low 736 1507 454 374 859 348 1004 1350 2197 151 161 170 28 133 821 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_138333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA418448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE778779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF086285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI757526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX110658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA390009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD517474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H54102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY099611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N54502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000394264   ⟹   ENSP00000377807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl968,780,065 - 68,785,566 (+)Ensembl
RefSeq Acc Id: NM_138333   ⟹   NP_612206
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38968,780,065 - 68,785,566 (+)NCBI
GRCh37971,394,964 - 71,398,609 (+)RGD
Build 36970,584,784 - 70,588,429 (+)NCBI Archive
Celera941,990,151 - 41,993,796 (+)RGD
HuRef941,240,535 - 41,244,180 (+)RGD
CHM1_1971,542,146 - 71,546,019 (+)NCBI
T2T-CHM13v2.0980,953,589 - 80,959,090 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_612206 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH13062 (Get FASTA)   NCBI Sequence Viewer  
  BAG54319 (Get FASTA)   NCBI Sequence Viewer  
  BAG65004 (Get FASTA)   NCBI Sequence Viewer  
  EAW62468 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000377807
  ENSP00000377807.5
GenBank Protein Q96E09 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_612206   ⟸   NM_138333
- UniProtKB: Q96E09 (UniProtKB/Swiss-Prot),   B3KX07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000377807   ⟸   ENST00000394264

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96E09-F1-model_v2 AlphaFold Q96E09 1-287 view protein structure

Promoters
RGD ID:6807668
Promoter ID:HG_KWN:63581
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052556
Position:
Human AssemblyChrPosition (strand)Source
Build 36970,584,581 - 70,587,582 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23490 AgrOrtholog
COSMIC PABIR1 COSMIC
Ensembl Genes ENSG00000187866 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000394264 ENTREZGENE
  ENST00000394264.7 UniProtKB/Swiss-Prot
GTEx ENSG00000187866 GTEx
HGNC ID HGNC:23490 ENTREZGENE
Human Proteome Map PABIR1 Human Proteome Map
InterPro FAM122 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:116224 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 116224 ENTREZGENE
OMIM 617249 OMIM
PANTHER PPP2R1A-PPP2R2A-INTERACTING PHOSPHATASE REGULATOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22227 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KX07 ENTREZGENE, UniProtKB/TrEMBL
  F122A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-10-19 PABIR1  PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1  FAM122A  family with sequence similarity 122A  Symbol and/or name change 19259463 PROVISIONAL