PPP1R7 (protein phosphatase 1 regulatory subunit 7) - Rat Genome Database

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Gene: PPP1R7 (protein phosphatase 1 regulatory subunit 7) Homo sapiens
Analyze
Symbol: PPP1R7
Name: protein phosphatase 1 regulatory subunit 7
RGD ID: 1317789
HGNC Page HGNC:9295
Description: Predicted to enable protein phosphatase regulator activity. Acts upstream of or within positive regulation of protein dephosphorylation. Located in chromosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: protein phosphatase 1 regulatory subunit 22; protein phosphatase 1, regulatory (inhibitor) subunit 7; protein phosphatase-1 regulatory subunit 7 alpha2; protein phosphatase-1 regulatory subunit 7 beta1; protein phosphatase-1 regulatory subunit 7 beta2; SDS22; testis secretory sperm-binding protein Li 210a
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
GRCh382241,149,573 - 241,183,652 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2241,149,576 - 241,183,652 (+)EnsemblGRCh38hg38GRCh38
GRCh372242,088,988 - 242,123,067 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,738,575 - 241,771,112 (+)NCBINCBI36Build 36hg18NCBI36
Build 342241,809,891 - 241,842,429NCBI
Celera2235,759,626 - 235,792,623 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2233,846,344 - 233,879,486 (+)NCBIHuRef
CHM1_12242,095,958 - 242,128,538 (+)NCBICHM1_1
T2T-CHM13v2.02241,648,673 - 241,683,461 (+)NCBIT2T-CHM13v2.0
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
chromosome  (IDA)
cytoplasm  (IEA,TAS)
extracellular exosome  (HDA)
nucleus  (HDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7498485   PMID:7670491   PMID:8889548   PMID:10231361   PMID:12226088   PMID:12477932   PMID:15489334   PMID:16344560   PMID:17081983   PMID:17353931   PMID:17630778   PMID:19019082  
PMID:19056867   PMID:20360068   PMID:20921135   PMID:21399659   PMID:21630459   PMID:21873635   PMID:21900206   PMID:22801782   PMID:22863883   PMID:23376485   PMID:23414517   PMID:23533145  
PMID:24366813   PMID:25036637   PMID:25298395   PMID:25416956   PMID:25544563   PMID:25593058   PMID:25814554   PMID:26168397   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26496610  
PMID:27173435   PMID:27557660   PMID:27609421   PMID:27685628   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28718761   PMID:29599191   PMID:29669786   PMID:29676528   PMID:30344098  
PMID:30500680   PMID:30661852   PMID:31056421   PMID:31548429   PMID:32296183   PMID:32963011   PMID:32994395   PMID:33058883   PMID:33060197   PMID:33961781   PMID:34011540   PMID:34373451  
PMID:34709727   PMID:34824462   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35831314   PMID:35944360   PMID:36215168  


Genomics

Comparative Map Data
PPP1R7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382241,149,573 - 241,183,652 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2241,149,576 - 241,183,652 (+)EnsemblGRCh38hg38GRCh38
GRCh372242,088,988 - 242,123,067 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,738,575 - 241,771,112 (+)NCBINCBI36Build 36hg18NCBI36
Build 342241,809,891 - 241,842,429NCBI
Celera2235,759,626 - 235,792,623 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2233,846,344 - 233,879,486 (+)NCBIHuRef
CHM1_12242,095,958 - 242,128,538 (+)NCBICHM1_1
T2T-CHM13v2.02241,648,673 - 241,683,461 (+)NCBIT2T-CHM13v2.0
Ppp1r7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,271,350 - 93,295,344 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl193,270,576 - 93,301,211 (+)EnsemblGRCm39 Ensembl
GRCm38193,343,610 - 93,367,616 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,342,854 - 93,373,489 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,240,222 - 95,264,195 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36195,174,051 - 95,198,024 (+)NCBIMGSCv36mm8
Celera196,288,260 - 96,312,213 (+)NCBICelera
Cytogenetic Map1DNCBI
cM Map147.24NCBI
Ppp1r7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89101,333,472 - 101,358,589 (+)NCBIGRCr8
mRatBN7.2993,886,068 - 93,911,198 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl993,886,143 - 93,914,850 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9102,321,658 - 102,346,746 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09107,457,461 - 107,482,640 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09105,813,603 - 105,838,783 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0999,556,587 - 100,504,077 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0999,226,358 - 99,235,083 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.09100,116,100 - 100,160,432 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,624,083 - 92,648,034 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1992,828,851 - 92,852,802 (+)NCBI
Celera991,421,088 - 91,444,915 (+)NCBICelera
Cytogenetic Map9q36NCBI
Ppp1r7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955542520,605 - 539,699 (-)NCBIChiLan1.0ChiLan1.0
PPP1R7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213143,849,616 - 143,883,834 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B143,864,512 - 143,898,730 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B128,418,212 - 128,452,417 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B247,214,953 - 247,248,761 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B247,214,882 - 247,248,761 (+)Ensemblpanpan1.1panPan2
PPP1R7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12551,181,092 - 51,206,237 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,181,053 - 51,206,193 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,393,754 - 51,418,900 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02551,375,512 - 51,400,669 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2551,375,474 - 51,401,299 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12551,223,238 - 51,248,373 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02550,962,763 - 50,987,892 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02551,239,231 - 51,264,386 (+)NCBIUU_Cfam_GSD_1.0
Ppp1r7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,555,414 - 192,584,880 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936745639,379 - 663,926 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15139,917,257 - 139,941,251 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115139,918,006 - 139,937,168 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215155,032,379 - 155,050,592 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPP1R7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,206,233 - 127,243,577 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604072,137,475 - 72,176,353 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp1r7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248475,246,734 - 5,263,867 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248475,247,094 - 5,263,873 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP1R7
7 total Variants

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(chr2:236555233-242126245)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(chr2:241179664-242065208)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 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [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(chr2:240712924-241408725)x3 copy number gain See cases [RCV000052979] Chr2:240712924..241408725 [GRCh38]
Chr2:241652341..242348140 [GRCh37]
Chr2:241301014..241996813 [NCBI36]
Chr2:2q37.3		 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
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 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
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 2q37.2-37.3(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 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [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 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 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
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 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 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 2q37.3(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 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(chr2:241704379-242375813)x4 copy number gain not provided [RCV000682097] Chr2:241704379..242375813 [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 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(chr2:238037759-243101834)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(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3		 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 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(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3		 likely 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 2q37.2-37.3(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(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
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(chr2:241582582-242285265)x3 copy number gain not provided [RCV000846002] Chr2:241582582..242285265 [GRCh37]
Chr2:2q37.3		 uncertain significance
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 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_002712.3(PPP1R7):c.975A>G (p.Thr325=) single nucleotide variant not provided [RCV000892434] Chr2:241182715 [GRCh38]
Chr2:242122130 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
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(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [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(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3		 uncertain significance
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 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [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 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 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
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3 copy number gain not provided [RCV001827620] Chr2:240208466..243199373 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1 copy number loss not provided [RCV001834263] Chr2:239436367..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1 [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1 copy number loss not provided [RCV002293050] Chr2:239229304..243199373 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_002712.3(PPP1R7):c.535A>G (p.Ile179Val) single nucleotide variant Inborn genetic diseases [RCV002836541] Chr2:241160432 [GRCh38]
Chr2:242099847 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_002712.3(PPP1R7):c.860A>G (p.Lys287Arg) single nucleotide variant Inborn genetic diseases [RCV002751929] Chr2:241169821 [GRCh38]
Chr2:242109236 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_002712.3(PPP1R7):c.337A>G (p.Ile113Val) single nucleotide variant Inborn genetic diseases [RCV002986917] Chr2:241159246 [GRCh38]
Chr2:242098661 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_002712.3(PPP1R7):c.689C>T (p.Thr230Ile) single nucleotide variant Inborn genetic diseases [RCV002697257] Chr2:241163376 [GRCh38]
Chr2:242102791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_002712.3(PPP1R7):c.148G>C (p.Asp50His) single nucleotide variant Inborn genetic diseases [RCV002808025] Chr2:241153571 [GRCh38]
Chr2:242092986 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:242016780-242193127)x3 copy number gain not provided [RCV003484102] Chr2:242016780..242193127 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 copy number loss not provided [RCV003485294] Chr2:238460671..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4919
Count of miRNA genes:1016
Interacting mature miRNAs:1250
Transcripts:ENST00000234038, ENST00000272983, ENST00000401987, ENST00000402734, ENST00000404405, ENST00000406106, ENST00000407025, ENST00000415769, ENST00000423280, ENST00000427172, ENST00000438799, ENST00000439916, ENST00000450367, ENST00000467159, ENST00000473017, ENST00000479821, ENST00000485630, ENST00000491715, ENST00000493374, ENST00000498170
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.

Markers in Region
HSC11F082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,122,230 - 242,122,432UniSTSGRCh37
Build 362241,770,903 - 241,771,105RGDNCBI36
Celera2235,792,414 - 235,792,616RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,879,277 - 233,879,479UniSTS
D2S1499E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,122,238 - 242,122,374UniSTSGRCh37
Build 362241,770,911 - 241,771,047RGDNCBI36
Celera2235,792,422 - 235,792,558RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,879,285 - 233,879,421UniSTS
D2S1647E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,122,295 - 242,122,374UniSTSGRCh37
Build 362241,770,968 - 241,771,047RGDNCBI36
Celera2235,792,479 - 235,792,558RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,879,342 - 233,879,421UniSTS
GeneMap99-GB4 RH Map2744.94UniSTS
NCBI RH Map21915.5UniSTS
RH66016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,122,766 - 242,122,951UniSTSGRCh37
Build 362241,771,439 - 241,771,624RGDNCBI36
Celera2235,792,950 - 235,793,135RGD
HuRef2233,879,813 - 233,879,998UniSTS
GeneMap99-GB4 RH Map2744.74UniSTS
NCBI RH Map21915.5UniSTS
RH65708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,117,393 - 242,117,527UniSTSGRCh37
Build 362241,766,066 - 241,766,200RGDNCBI36
Celera2235,787,005 - 235,787,139RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,873,825 - 233,873,959UniSTS
GeneMap99-GB4 RH Map2744.74UniSTS
NCBI RH Map21915.5UniSTS
D2S2839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,122,297 - 242,122,418UniSTSGRCh37
Build 362241,770,970 - 241,771,091RGDNCBI36
Celera2235,792,481 - 235,792,602RGD
Cytogenetic Map2q37.3UniSTS
HuRef2233,879,344 - 233,879,465UniSTS
GeneMap99-G3 RH Map210200.0UniSTS


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 2438 2810 1691 590 1848 431 4356 2122 3710 412 1460 1613 175 1 1204 2788 6 2
Low 1 181 35 34 103 34 1 75 24 7
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG684153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI256145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM676947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ212238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA787059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z50749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000234038   ⟹   ENSP00000234038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,467 - 241,183,652 (+)Ensembl
RefSeq Acc Id: ENST00000272983   ⟹   ENSP00000272983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,149,658 - 241,182,985 (+)Ensembl
RefSeq Acc Id: ENST00000401987   ⟹   ENSP00000385466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,496 - 241,167,174 (+)Ensembl
RefSeq Acc Id: ENST00000402734   ⟹   ENSP00000385012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,149,592 - 241,167,172 (+)Ensembl
RefSeq Acc Id: ENST00000404405   ⟹   ENSP00000385498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,418 - 241,167,174 (+)Ensembl
RefSeq Acc Id: ENST00000406106   ⟹   ENSP00000385022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,480 - 241,167,174 (+)Ensembl
RefSeq Acc Id: ENST00000407025   ⟹   ENSP00000385657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,149,638 - 241,183,024 (+)Ensembl
RefSeq Acc Id: ENST00000415769   ⟹   ENSP00000413360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,169,798 - 241,183,652 (+)Ensembl
RefSeq Acc Id: ENST00000423280   ⟹   ENSP00000412092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,149,613 - 241,182,784 (+)Ensembl
RefSeq Acc Id: ENST00000427172   ⟹   ENSP00000397985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,151,474 - 241,159,303 (+)Ensembl
RefSeq Acc Id: ENST00000438799   ⟹   ENSP00000396376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,149,576 - 241,169,856 (+)Ensembl
RefSeq Acc Id: ENST00000439916   ⟹   ENSP00000409719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,467 - 241,160,433 (+)Ensembl
RefSeq Acc Id: ENST00000450367   ⟹   ENSP00000392373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,153,482 - 241,182,846 (+)Ensembl
RefSeq Acc Id: ENST00000467159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,155,018 - 241,160,421 (+)Ensembl
RefSeq Acc Id: ENST00000473017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,467 - 241,158,807 (+)Ensembl
RefSeq Acc Id: ENST00000479821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,166,341 - 241,169,892 (+)Ensembl
RefSeq Acc Id: ENST00000485630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,155,073 - 241,166,439 (+)Ensembl
RefSeq Acc Id: ENST00000491715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,159,137 - 241,182,740 (+)Ensembl
RefSeq Acc Id: ENST00000493374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,484 - 241,158,923 (+)Ensembl
RefSeq Acc Id: ENST00000498170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,150,483 - 241,158,794 (+)Ensembl
RefSeq Acc Id: NM_001282409   ⟹   NP_001269338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,658 - 241,183,650 (+)NCBI
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,129 - 242,129,164 (+)NCBI
T2T-CHM13v2.02241,648,758 - 241,683,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282410   ⟹   NP_001269339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,658 - 241,167,174 (+)NCBI
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,129 - 242,112,650 (+)NCBI
T2T-CHM13v2.02241,648,758 - 241,666,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282411   ⟹   NP_001269340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,658 - 241,167,174 (+)NCBI
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,129 - 242,112,650 (+)NCBI
T2T-CHM13v2.02241,648,758 - 241,666,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282412   ⟹   NP_001269341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,573 - 241,183,650 (+)NCBI
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,044 - 242,129,164 (+)NCBI
T2T-CHM13v2.02241,648,673 - 241,683,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282413   ⟹   NP_001269342
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,573 - 241,183,650 (+)NCBI
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,044 - 242,129,164 (+)NCBI
T2T-CHM13v2.02241,648,673 - 241,683,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282414   ⟹   NP_001269343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,573 - 241,167,174 (+)NCBI
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,044 - 242,112,650 (+)NCBI
T2T-CHM13v2.02241,648,673 - 241,666,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002712   ⟹   NP_002703
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,150,467 - 241,183,652 (+)NCBI
GRCh372242,089,012 - 242,122,439 (+)NCBI
Build 362241,738,575 - 241,771,112 (+)NCBI Archive
Celera2235,759,626 - 235,792,623 (+)RGD
HuRef2233,845,430 - 233,880,112 (+)NCBI
CHM1_12242,095,129 - 242,129,164 (+)NCBI
T2T-CHM13v2.02241,649,567 - 241,683,461 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511388   ⟹   XP_011509690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,155,018 - 241,183,652 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047444851   ⟹   XP_047300807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,573 - 241,167,174 (+)NCBI
RefSeq Acc Id: XM_054342714   ⟹   XP_054198689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,654,159 - 241,683,461 (+)NCBI
RefSeq Acc Id: XM_054342715   ⟹   XP_054198690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02241,648,673 - 241,666,280 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001269338 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269339 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269340 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269341 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269342 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269343 (Get FASTA)   NCBI Sequence Viewer  
  NP_002703 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509690 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198689 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198690 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD26610 (Get FASTA)   NCBI Sequence Viewer  
  AAD26611 (Get FASTA)   NCBI Sequence Viewer  
  AAD26612 (Get FASTA)   NCBI Sequence Viewer  
  AAD26613 (Get FASTA)   NCBI Sequence Viewer  
  AAH00910 (Get FASTA)   NCBI Sequence Viewer  
  AAH12397 (Get FASTA)   NCBI Sequence Viewer  
  AAH13001 (Get FASTA)   NCBI Sequence Viewer  
  AAP35960 (Get FASTA)   NCBI Sequence Viewer  
  AAV38936 (Get FASTA)   NCBI Sequence Viewer  
  AEE61220 (Get FASTA)   NCBI Sequence Viewer  
  BAG57395 (Get FASTA)   NCBI Sequence Viewer  
  CAA90626 (Get FASTA)   NCBI Sequence Viewer  
  EAW71243 (Get FASTA)   NCBI Sequence Viewer  
  EAW71244 (Get FASTA)   NCBI Sequence Viewer  
  EAW71245 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000234038
  ENSP00000234038.6
  ENSP00000272983
  ENSP00000272983.8
  ENSP00000385012
  ENSP00000385012.1
  ENSP00000385022
  ENSP00000385022.3
  ENSP00000385466
  ENSP00000385466.1
  ENSP00000385498.3
  ENSP00000385657.1
  ENSP00000392373
  ENSP00000392373.1
  ENSP00000396376
  ENSP00000396376.1
  ENSP00000397985.1
  ENSP00000409719.1
  ENSP00000412092
  ENSP00000412092.1
  ENSP00000413360.1
GenBank Protein Q15435 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002703   ⟸   NM_002712
- Peptide Label: isoform 1
- UniProtKB: Q9UQE6 (UniProtKB/Swiss-Prot),   Q9UQE5 (UniProtKB/Swiss-Prot),   B5MCY6 (UniProtKB/Swiss-Prot),   B4DFD4 (UniProtKB/Swiss-Prot),   Q9Y6K4 (UniProtKB/Swiss-Prot),   Q15435 (UniProtKB/Swiss-Prot),   A0A140VK83 (UniProtKB/TrEMBL),   H7C003 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269341   ⟸   NM_001282412
- Peptide Label: isoform 5
- UniProtKB: H7C003 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269342   ⟸   NM_001282413
- Peptide Label: isoform 6
- UniProtKB: C9J177 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269343   ⟸   NM_001282414
- Peptide Label: isoform 7
- UniProtKB: Q15435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269338   ⟸   NM_001282409
- Peptide Label: isoform 2
- UniProtKB: C9J177 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269339   ⟸   NM_001282410
- Peptide Label: isoform 3
- UniProtKB: Q15435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269340   ⟸   NM_001282411
- Peptide Label: isoform 4
- UniProtKB: Q15435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509690   ⟸   XM_011511388
- Peptide Label: isoform X1
- UniProtKB: C9J177 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000412092   ⟸   ENST00000423280
RefSeq Acc Id: ENSP00000396376   ⟸   ENST00000438799
RefSeq Acc Id: ENSP00000392373   ⟸   ENST00000450367
RefSeq Acc Id: ENSP00000409719   ⟸   ENST00000439916
RefSeq Acc Id: ENSP00000397985   ⟸   ENST00000427172
RefSeq Acc Id: ENSP00000413360   ⟸   ENST00000415769
RefSeq Acc Id: ENSP00000385466   ⟸   ENST00000401987
RefSeq Acc Id: ENSP00000385012   ⟸   ENST00000402734
RefSeq Acc Id: ENSP00000272983   ⟸   ENST00000272983
RefSeq Acc Id: ENSP00000385498   ⟸   ENST00000404405
RefSeq Acc Id: ENSP00000234038   ⟸   ENST00000234038
RefSeq Acc Id: ENSP00000385022   ⟸   ENST00000406106
RefSeq Acc Id: ENSP00000385657   ⟸   ENST00000407025
RefSeq Acc Id: XP_047300807   ⟸   XM_047444851
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198690   ⟸   XM_054342715
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198689   ⟸   XM_054342714
- Peptide Label: isoform X1
- UniProtKB: C9J177 (UniProtKB/TrEMBL)
Protein Domains
LRRCT   U2A'/phosphoprotein 32 family A C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15435-F1-model_v2 AlphaFold Q15435 1-360 view protein structure

Promoters
RGD ID:6863336
Promoter ID:EPDNEW_H4833
Type:initiation region
Name:PPP1R7_2
Description:protein phosphatase 1 regulatory subunit 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4835  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,149,604 - 241,149,664EPDNEW
RGD ID:6863340
Promoter ID:EPDNEW_H4835
Type:initiation region
Name:PPP1R7_1
Description:protein phosphatase 1 regulatory subunit 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4833  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,150,483 - 241,150,543EPDNEW
RGD ID:6797982
Promoter ID:HG_KWN:38167
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000401987,   ENST00000402734,   ENST00000404405,   ENST00000406106,   ENST00000407025,   OTTHUMT00000257244,   OTTHUMT00000323554,   OTTHUMT00000323563,   OTTHUMT00000323564,   OTTHUMT00000323604,   OTTHUMT00000323605,   OTTHUMT00000323606,   UC010FZM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,737,361 - 241,738,632 (+)MPROMDB
RGD ID:6797975
Promoter ID:HG_KWN:38168
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000323607
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,738,451 - 241,738,951 (+)MPROMDB
RGD ID:6851812
Promoter ID:EP73711
Type:initiation region
Name:HS_PPP1R7
Description:Protein phosphatase 1, regulatory subunit 7.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,738,570 - 241,738,630EPD
RGD ID:6797978
Promoter ID:HG_KWN:38169
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:UC002WAV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,741,466 - 241,741,966 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9295 AgrOrtholog
COSMIC PPP1R7 COSMIC
Ensembl Genes ENSG00000115685 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000234038 ENTREZGENE
  ENST00000234038.11 UniProtKB/Swiss-Prot
  ENST00000272983 ENTREZGENE
  ENST00000272983.12 UniProtKB/Swiss-Prot
  ENST00000401987 ENTREZGENE
  ENST00000401987.5 UniProtKB/Swiss-Prot
  ENST00000402734 ENTREZGENE
  ENST00000402734.5 UniProtKB/Swiss-Prot
  ENST00000404405.7 UniProtKB/TrEMBL
  ENST00000406106 ENTREZGENE
  ENST00000406106.7 UniProtKB/Swiss-Prot
  ENST00000407025.5 UniProtKB/Swiss-Prot
  ENST00000415769.1 UniProtKB/TrEMBL
  ENST00000423280 ENTREZGENE
  ENST00000423280.5 UniProtKB/TrEMBL
  ENST00000427172.5 UniProtKB/TrEMBL
  ENST00000438799 ENTREZGENE
  ENST00000438799.5 UniProtKB/TrEMBL
  ENST00000439916.5 UniProtKB/TrEMBL
  ENST00000450367 ENTREZGENE
  ENST00000450367.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115685 GTEx
HGNC ID HGNC:9295 ENTREZGENE
Human Proteome Map PPP1R7 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U2A'_phosphoprotein32A_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5510 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5510 ENTREZGENE
OMIM 602877 OMIM
PANTHER CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 410-RELATED UniProtKB/TrEMBL
  LEUCINE RICH REPEAT PROTEIN UniProtKB/TrEMBL
  LEUCINE-RICH REPEAT AND IQ DOMAIN-CONTAINING PROTEIN 1-RELATED UniProtKB/TrEMBL
  LEUCINE-RICH REPEAT-CONTAINING PROTEIN 9 ISOFORM X1 UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT SDS22-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33658 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRcap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Outer arm dynein light chain 1 UniProtKB/TrEMBL
UniProt A0A140VK83 ENTREZGENE, UniProtKB/TrEMBL
  B4DFD4 ENTREZGENE
  B5MBZ8_HUMAN UniProtKB/TrEMBL
  B5MCY6 ENTREZGENE
  C9J177 ENTREZGENE, UniProtKB/TrEMBL
  C9JD73_HUMAN UniProtKB/TrEMBL
  C9JRC4_HUMAN UniProtKB/TrEMBL
  H7C003 ENTREZGENE, UniProtKB/TrEMBL
  H7C118_HUMAN UniProtKB/TrEMBL
  H7C3Q5_HUMAN UniProtKB/TrEMBL
  PP1R7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UQE5 ENTREZGENE
  Q9UQE6 ENTREZGENE
  Q9Y6K4 ENTREZGENE
UniProt Secondary B4DFD4 UniProtKB/Swiss-Prot
  B5MCY6 UniProtKB/Swiss-Prot
  Q9UQE5 UniProtKB/Swiss-Prot
  Q9UQE6 UniProtKB/Swiss-Prot
  Q9Y6K4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP1R7  protein phosphatase 1 regulatory subunit 7    protein phosphatase 1, regulatory subunit 7  Symbol and/or name change 5135510 APPROVED
2011-10-11 PPP1R7  protein phosphatase 1, regulatory subunit 7  PPP1R7  protein phosphatase 1, regulatory (inhibitor) subunit 7  Symbol and/or name change 5135510 APPROVED