DBNL (drebrin like) - Rat Genome Database

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Gene: DBNL (drebrin like) Homo sapiens
Analyze
Symbol: DBNL
Name: drebrin like
RGD ID: 1606301
HGNC Page HGNC:2696
Description: Enables cadherin binding activity. Predicted to be involved in several processes, including Rac protein signal transduction; nervous system development; and podosome assembly. Located in cytoplasm; intracellular membrane-bounded organelle; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ABP1; actin-binding protein 1; cervical mucin-associated protein; cervical SH3P7; drebrin-F; drebrin-like; drebrin-like protein; HIP-55; HIP55; HPK1-interacting protein of 55 kDa; SH3 domain-containing protein 7; SH3P7; src homology 3 domain-containing protein HIP-55
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,044,702 - 44,069,456 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,044,640 - 44,069,456 (+)EnsemblGRCh38hg38GRCh38
GRCh37744,084,301 - 44,109,055 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,050,830 - 44,067,840 (+)NCBINCBI36Build 36hg18NCBI36
Celera744,182,185 - 44,199,260 (+)NCBICelera
Cytogenetic Map7p13NCBI
HuRef743,969,523 - 43,986,598 (+)NCBIHuRef
CHM1_1744,088,113 - 44,105,189 (+)NCBICHM1_1
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,123,733 - 44,140,805 (+)NCBI
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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9858486   PMID:9891087   PMID:10087302   PMID:10567356   PMID:11595038   PMID:11689006   PMID:12477932   PMID:12565838   PMID:12690205   PMID:12913069   PMID:14557276   PMID:14702039  
PMID:14729663   PMID:14744259   PMID:15144186   PMID:15489334   PMID:15498874   PMID:15592455   PMID:15637062   PMID:16055701   PMID:16094384   PMID:16189514   PMID:16964243   PMID:17081983  
PMID:17207965   PMID:17213182   PMID:17306257   PMID:17353931   PMID:18829961   PMID:19056867   PMID:19060904   PMID:19336002   PMID:20618440   PMID:21044950   PMID:21145461   PMID:21653829  
PMID:21873635   PMID:22043307   PMID:22450813   PMID:22863883   PMID:23824909   PMID:24651461   PMID:24668193   PMID:24816252   PMID:24912570   PMID:25416956   PMID:25468996   PMID:25690657  
PMID:25715176   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26618866   PMID:26912792   PMID:26972000   PMID:27129278   PMID:27432908   PMID:28378594   PMID:28514442   PMID:28718761  
PMID:28986522   PMID:29426014   PMID:29467282   PMID:29509190   PMID:30196744   PMID:30884312   PMID:30890647   PMID:30948266   PMID:30979931   PMID:31091453   PMID:31519766   PMID:31527615  
PMID:32203420   PMID:32282191   PMID:32296183   PMID:32640226   PMID:32814053   PMID:32994395   PMID:33545068   PMID:33729478   PMID:33916271   PMID:33961781   PMID:33995658   PMID:34079125  
PMID:34349018   PMID:34597346   PMID:35063084   PMID:35271311   PMID:35446349   PMID:35545047   PMID:35575683   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36232890  
PMID:36517590   PMID:36634849   PMID:36931259   PMID:36964488   PMID:36966971   PMID:37039823   PMID:37151849   PMID:37167062   PMID:37774976   PMID:37827155   PMID:38280479   PMID:38334954  
PMID:38891874  


Genomics

Comparative Map Data
DBNL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,044,702 - 44,069,456 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,044,640 - 44,069,456 (+)EnsemblGRCh38hg38GRCh38
GRCh37744,084,301 - 44,109,055 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,050,830 - 44,067,840 (+)NCBINCBI36Build 36hg18NCBI36
Celera744,182,185 - 44,199,260 (+)NCBICelera
Cytogenetic Map7p13NCBI
HuRef743,969,523 - 43,986,598 (+)NCBIHuRef
CHM1_1744,088,113 - 44,105,189 (+)NCBICHM1_1
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,123,733 - 44,140,805 (+)NCBI
Dbnl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39115,730,233 - 5,750,980 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl115,738,488 - 5,750,962 (+)EnsemblGRCm39 Ensembl
GRCm38115,788,483 - 5,800,980 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl115,788,488 - 5,800,962 (+)EnsemblGRCm38mm10GRCm38
MGSCv37115,688,486 - 5,700,983 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36115,688,533 - 5,700,965 (+)NCBIMGSCv36mm8
Celera116,278,834 - 6,291,141 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.87NCBI
Dbnl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81484,880,085 - 84,895,122 (+)NCBIGRCr8
mRatBN7.21480,666,115 - 80,681,155 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1480,666,124 - 80,681,155 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1485,068,401 - 85,083,685 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01486,308,505 - 86,323,788 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01482,757,826 - 82,773,110 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01486,029,335 - 86,044,364 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,029,335 - 86,044,364 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01486,721,144 - 86,736,173 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41486,450,448 - 86,481,863 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11486,469,592 - 86,484,067 (+)NCBI
Celera1479,551,079 - 79,566,108 (+)NCBICelera
Cytogenetic Map14q21NCBI
Dbnl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,912,827 - 7,924,787 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,912,827 - 7,924,373 (-)NCBIChiLan1.0ChiLan1.0
DBNL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2648,950,223 - 48,972,891 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1797,276,140 - 97,297,574 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0744,753,062 - 44,775,717 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1744,824,537 - 44,842,059 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl744,824,608 - 44,845,891 (+)Ensemblpanpan1.1panPan2
DBNL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha161,996,510 - 2,007,305 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01614,854,694 - 14,865,499 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1614,854,694 - 14,877,271 (-)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.01614,485,876 - 14,496,666 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01614,466,360 - 14,477,156 (-)NCBIUU_Cfam_GSD_1.0
Dbnl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511899,795,888 - 99,809,337 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647819,007,672 - 19,020,361 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647819,007,630 - 19,021,068 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DBNL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1848,713,340 - 48,725,697 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11848,713,335 - 48,725,692 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21853,426,424 - 53,438,753 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DBNL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12114,610,196 - 14,627,363 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2114,608,571 - 14,627,321 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660627,886,798 - 7,904,467 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dbnl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247407,950,556 - 7,960,568 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247407,950,552 - 7,960,592 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DBNL
194 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_001014436.2(DBNL):c.1093C>T (p.Gln365Ter) single nucleotide variant Malignant melanoma [RCV000061651] Chr7:44060093 [GRCh38]
Chr7:44099692 [GRCh37]
Chr7:44066217 [NCBI36]
Chr7:7p13
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13
pathogenic
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13
pathogenic
GRCh37/hg19 7p13(chr7:43884184-44297732)x3 copy number gain not provided [RCV000584852] Chr7:43884184..44297732 [GRCh37]
Chr7:7p13
likely benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001014436.3(DBNL):c.467C>A (p.Ala156Asp) single nucleotide variant not specified [RCV004320074] Chr7:44056896 [GRCh38]
Chr7:44096495 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.463A>C (p.Ser155Arg) single nucleotide variant Inborn genetic diseases [RCV003290723] Chr7:44064964 [GRCh38]
Chr7:44104563 [GRCh37]
Chr7:7p13
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001014436.3(DBNL):c.1061G>C (p.Gly354Ala) single nucleotide variant not specified [RCV004288488] Chr7:44060061 [GRCh38]
Chr7:44099660 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.636G>A (p.Thr212=) single nucleotide variant Glycogen storage disease type X [RCV000968897] Chr7:44062890 [GRCh38]
Chr7:44102489 [GRCh37]
Chr7:7p13
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000290.4(PGAM2):c.576C>T (p.Gly192=) single nucleotide variant Glycogen storage disease type X [RCV001057451] Chr7:44064851 [GRCh38]
Chr7:44104450 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) single nucleotide variant Glycogen storage disease type X [RCV000000446]|PGAM2-related disorder [RCV003944788]|not provided [RCV000493394] Chr7:44065297 [GRCh38]
Chr7:44104896 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) single nucleotide variant Glycogen storage disease type X [RCV000318497]|PGAM2-related disorder [RCV003922598]|not provided [RCV000441032] Chr7:44062800 [GRCh38]
Chr7:44102399 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.3(PGAM2):c.-55A>C single nucleotide variant Glycogen storage disease type X [RCV000354059] Chr7:44065584 [GRCh38]
Chr7:44105183 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) single nucleotide variant Glycogen storage disease type X [RCV001503664]|PGAM2-related disorder [RCV003940073]|not provided [RCV000726387] Chr7:44065220 [GRCh38]
Chr7:44104819 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.*35A>G single nucleotide variant Glycogen storage disease type X [RCV000263380] Chr7:44062729 [GRCh38]
Chr7:44102328 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.415-17G>A single nucleotide variant Glycogen storage disease type X [RCV002521744]|not specified [RCV000420528] Chr7:44065029 [GRCh38]
Chr7:44104628 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.-32G>A single nucleotide variant not specified [RCV000602044] Chr7:44065561 [GRCh38]
Chr7:44105160 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.596-3T>C single nucleotide variant Glycogen storage disease type X [RCV000385818] Chr7:44062933 [GRCh38]
Chr7:44102532 [GRCh37]
Chr7:7p13
benign|likely benign|uncertain significance
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) single nucleotide variant Glycogen storage disease type X [RCV000823353] Chr7:44062915 [GRCh38]
Chr7:44102514 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) single nucleotide variant Glycogen storage disease type X [RCV000000448]|not provided [RCV000272130] Chr7:44065262 [GRCh38]
Chr7:44104861 [GRCh37]
Chr7:7p13
pathogenic|uncertain significance
NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg) single nucleotide variant Rhabdomyolysis [RCV000662286] Chr7:44062889 [GRCh38]
Chr7:44102488 [GRCh37]
Chr7:7p13
likely pathogenic
NM_000290.4(PGAM2):c.533del (p.Gly178fs) deletion Glycogen storage disease type X [RCV000714736]|not provided [RCV001570366] Chr7:44064894 [GRCh38]
Chr7:44104493 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) single nucleotide variant Glycogen storage disease type X [RCV000287788]|PGAM2-related disorder [RCV003932486]|not provided [RCV000675936]|not specified [RCV000601035] Chr7:44065164 [GRCh38]
Chr7:44104763 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) single nucleotide variant Glycogen storage disease type X [RCV000398760]|not specified [RCV000435514] Chr7:44065206 [GRCh38]
Chr7:44104805 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) single nucleotide variant Glycogen storage disease type X [RCV000382326]|not provided [RCV000675935] Chr7:44065155 [GRCh38]
Chr7:44104754 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) single nucleotide variant Glycogen storage disease type X [RCV000296223]|PGAM2-related disorder [RCV003922599]|not provided [RCV000892107] Chr7:44064968 [GRCh38]
Chr7:44104567 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.531C>G (p.Ala177=) single nucleotide variant Glycogen storage disease type X [RCV002528642]|not specified [RCV000607944] Chr7:44064896 [GRCh38]
Chr7:44104495 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) single nucleotide variant Glycogen storage disease type X [RCV000000447] Chr7:44065264 [GRCh38]
Chr7:44104863 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) single nucleotide variant Glycogen storage disease type X [RCV000000449]|not provided [RCV000973893] Chr7:44065240 [GRCh38]
Chr7:44104839 [GRCh37]
Chr7:7p13
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) single nucleotide variant Glycogen storage disease type X [RCV000284319]|Inborn genetic diseases [RCV003168559] Chr7:44065286 [GRCh38]
Chr7:44104885 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) single nucleotide variant Glycogen storage disease type X [RCV000509297]|PGAM2-related disorder [RCV003935335]|not provided [RCV001200533] Chr7:44062819 [GRCh38]
Chr7:44102418 [GRCh37]
Chr7:7p13
likely benign|uncertain significance|not provided
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) single nucleotide variant Glycogen storage disease type X [RCV000347390]|not provided [RCV000675937]|not specified [RCV000434075] Chr7:44065189 [GRCh38]
Chr7:44104788 [GRCh37]
Chr7:7p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000290.4(PGAM2):c.484C>T (p.Arg162Trp) single nucleotide variant not provided [RCV000175576] Chr7:44064943 [GRCh38]
Chr7:44104542 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.20del (p.Val7fs) deletion Glycogen storage disease type X [RCV002526017]|not provided [RCV000489223] Chr7:44065510 [GRCh38]
Chr7:44105109 [GRCh37]
Chr7:7p13
pathogenic|likely pathogenic
NM_000290.3(PGAM2):c.-50T>G single nucleotide variant not specified [RCV000436833] Chr7:44065579 [GRCh38]
Chr7:44105178 [GRCh37]
Chr7:7p13
benign
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) single nucleotide variant Glycogen storage disease type X [RCV001158893]|not provided [RCV000967159] Chr7:44065242 [GRCh38]
Chr7:44104841 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.264T>C (p.Asn88=) single nucleotide variant Glycogen storage disease type X [RCV002529446]|not provided [RCV001722619] Chr7:44065266 [GRCh38]
Chr7:44104865 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) single nucleotide variant Glycogen storage disease type X [RCV000332378] Chr7:44065001 [GRCh38]
Chr7:44104600 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.415-3C>T single nucleotide variant Glycogen storage disease type X [RCV001349366]|not provided [RCV001719002] Chr7:44065015 [GRCh38]
Chr7:44104614 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) single nucleotide variant Glycogen storage disease type X [RCV000339115]|not provided [RCV000675938]|not specified [RCV000173102] Chr7:44065314 [GRCh38]
Chr7:44104913 [GRCh37]
Chr7:7p13
benign|likely benign
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) single nucleotide variant Glycogen storage disease type X [RCV000399475]|Inborn genetic diseases [RCV002524532] Chr7:44065382 [GRCh38]
Chr7:44104981 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.-32dup duplication Glycogen storage disease type X [RCV000303928] Chr7:44065560..44065561 [GRCh38]
Chr7:44105159..44105160 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) single nucleotide variant Glycogen storage disease type X [RCV000634554]|not provided [RCV001569652] Chr7:44065411 [GRCh38]
Chr7:44105010 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000290.3(PGAM2):c.-46A>G single nucleotide variant not specified [RCV000422072] Chr7:44065575 [GRCh38]
Chr7:44105174 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys) single nucleotide variant Glycogen storage disease type X [RCV001163805]|Inborn genetic diseases [RCV002559570]|not provided [RCV001562657] Chr7:44064926 [GRCh38]
Chr7:44104525 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.3(PGAM2):c.-164C>T single nucleotide variant not provided [RCV000836235] Chr7:44065693 [GRCh38]
Chr7:44105292 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.511A>G (p.Ile171Val) single nucleotide variant Glycogen storage disease type X [RCV002056827]|Inborn genetic diseases [RCV002527137]|not provided [RCV000498341] Chr7:44064916 [GRCh38]
Chr7:44104515 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) single nucleotide variant Glycogen storage disease type X [RCV000820915] Chr7:44065156 [GRCh38]
Chr7:44104755 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p13(chr7:44085864-44134894)x3 copy number gain not provided [RCV000847343] Chr7:44085864..44134894 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.62G>A (p.Arg21His) single nucleotide variant Glycogen storage disease type X [RCV001213469] Chr7:44065468 [GRCh38]
Chr7:44105067 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.194G>A (p.Arg65His) single nucleotide variant Glycogen storage disease type X [RCV001241771]|Inborn genetic diseases [RCV004649536] Chr7:44065336 [GRCh38]
Chr7:44104935 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) single nucleotide variant Glycogen storage disease type X [RCV001158894] Chr7:44065278 [GRCh38]
Chr7:44104877 [GRCh37]
Chr7:7p13
conflicting interpretations of pathogenicity|uncertain significance
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) single nucleotide variant Glycogen storage disease type X [RCV001163807]|Inborn genetic diseases [RCV002558576]|PGAM2-related disorder [RCV003953550] Chr7:44064972 [GRCh38]
Chr7:44104571 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.13:g.(?_43810758)_(44747598_?)del deletion not provided [RCV003105673] Chr7:43810758..44747598 [GRCh37]
Chr7:7p13
uncertain significance
NC_000007.14:g.44065740G>A single nucleotide variant not provided [RCV001722073] Chr7:44065740 [GRCh38]
Chr7:44105339 [GRCh37]
Chr7:7p13
benign
NC_000007.14:g.44065889C>G single nucleotide variant not provided [RCV001564146] Chr7:44065889 [GRCh38]
Chr7:44105488 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu) single nucleotide variant Glycogen storage disease type X [RCV001218600] Chr7:44065165 [GRCh38]
Chr7:44104764 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) single nucleotide variant Glycogen storage disease type X [RCV001163804]|not provided [RCV004773301] Chr7:44064916 [GRCh38]
Chr7:44104515 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.480T>C (p.Ile160=) single nucleotide variant Glycogen storage disease type X [RCV001163806]|not provided [RCV003456477] Chr7:44064947 [GRCh38]
Chr7:44104546 [GRCh37]
Chr7:7p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.44065600G>A single nucleotide variant not provided [RCV001556129] Chr7:44065600 [GRCh38]
Chr7:44105199 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.414+36T>C single nucleotide variant not provided [RCV001592367] Chr7:44065080 [GRCh38]
Chr7:44104679 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) single nucleotide variant Glycogen storage disease type X [RCV001160235]|Inborn genetic diseases [RCV004032846] Chr7:44065415 [GRCh38]
Chr7:44105014 [GRCh37]
Chr7:7p13
uncertain significance
NC_000007.14:g.44062706C>T single nucleotide variant not provided [RCV001679343] Chr7:44062706 [GRCh38]
Chr7:44102305 [GRCh37]
Chr7:7p13
benign
NM_000290.4(PGAM2):c.595+212T>C single nucleotide variant not provided [RCV001652418] Chr7:44064620 [GRCh38]
Chr7:44104219 [GRCh37]
Chr7:7p13
benign
NM_000290.4(PGAM2):c.35_37del (p.Gly12del) deletion Glycogen storage disease type X [RCV001060190] Chr7:44065493..44065495 [GRCh38]
Chr7:44105092..44105094 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys) single nucleotide variant Glycogen storage disease type X [RCV001061227] Chr7:44065274 [GRCh38]
Chr7:44104873 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) single nucleotide variant Glycogen storage disease type X [RCV001163803]|Inborn genetic diseases [RCV002557402] Chr7:44064856 [GRCh38]
Chr7:44104455 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.244G>A (p.Val82Met) single nucleotide variant Glycogen storage disease type X [RCV001232662] Chr7:44065286 [GRCh38]
Chr7:44104885 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) single nucleotide variant Glycogen storage disease type X [RCV001158895] Chr7:44065298 [GRCh38]
Chr7:44104897 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val) single nucleotide variant Glycogen storage disease type X [RCV001051356] Chr7:44065387 [GRCh38]
Chr7:44104986 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.36C>T (p.Gly12=) single nucleotide variant Glycogen storage disease type X [RCV001056711] Chr7:44065494 [GRCh38]
Chr7:44105093 [GRCh37]
Chr7:7p13
likely benign|uncertain significance
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro) single nucleotide variant Glycogen storage disease type X [RCV001367955] Chr7:44064882 [GRCh38]
Chr7:44104481 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.90G>A (p.Leu30=) single nucleotide variant Glycogen storage disease type X [RCV001396937] Chr7:44065440 [GRCh38]
Chr7:44105039 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.414+6C>T single nucleotide variant Glycogen storage disease type X [RCV001369119] Chr7:44065110 [GRCh38]
Chr7:44104709 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.19G>A (p.Val7Met) single nucleotide variant Glycogen storage disease type X [RCV001301538]|Inborn genetic diseases [RCV003166698] Chr7:44065511 [GRCh38]
Chr7:44105110 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Syndactyly [RCV001352654] Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln) single nucleotide variant Glycogen storage disease type X [RCV001314052]|Inborn genetic diseases [RCV004034305] Chr7:44062807 [GRCh38]
Chr7:44102406 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2
pathogenic
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) single nucleotide variant Glycogen storage disease type X [RCV001370064] Chr7:44062771 [GRCh38]
Chr7:44102370 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.644C>A (p.Pro215His) single nucleotide variant Inborn genetic diseases [RCV004037907]|not provided [RCV001509308] Chr7:44062882 [GRCh38]
Chr7:44102481 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=) single nucleotide variant Glycogen storage disease type X [RCV001457460] Chr7:44065254 [GRCh38]
Chr7:44104853 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.445T>C (p.Phe149Leu) single nucleotide variant not specified [RCV004608838] Chr7:44056874 [GRCh38]
Chr7:44096473 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter) single nucleotide variant Glycogen storage disease type X [RCV001386188] Chr7:44065199 [GRCh38]
Chr7:44104798 [GRCh37]
Chr7:7p13
pathogenic
NM_000290.4(PGAM2):c.308C>T (p.Thr103Met) single nucleotide variant not provided [RCV001764040] Chr7:44065222 [GRCh38]
Chr7:44104821 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.16C>G (p.Leu6Val) single nucleotide variant Glycogen storage disease type X [RCV001896286] Chr7:44065514 [GRCh38]
Chr7:44105113 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2
pathogenic
NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg) single nucleotide variant Glycogen storage disease type X [RCV001870944] Chr7:44065162 [GRCh38]
Chr7:44104761 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.515T>G (p.Val172Gly) single nucleotide variant Glycogen storage disease type X [RCV001886486] Chr7:44064912 [GRCh38]
Chr7:44104511 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys) single nucleotide variant Glycogen storage disease type X [RCV001923695] Chr7:44065493 [GRCh38]
Chr7:44105092 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.596-7G>A single nucleotide variant Glycogen storage disease type X [RCV001924108] Chr7:44062937 [GRCh38]
Chr7:44102536 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser) single nucleotide variant Glycogen storage disease type X [RCV001886263]|Inborn genetic diseases [RCV003264171] Chr7:44064895 [GRCh38]
Chr7:44104494 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.381C>T (p.Asp127=) single nucleotide variant Glycogen storage disease type X [RCV002112957] Chr7:44065149 [GRCh38]
Chr7:44104748 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.363C>T (p.Ile121=) single nucleotide variant Glycogen storage disease type X [RCV002137078]|PGAM2-related disorder [RCV003895823] Chr7:44065167 [GRCh38]
Chr7:44104766 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.415-5C>T single nucleotide variant Glycogen storage disease type X [RCV002083624] Chr7:44065017 [GRCh38]
Chr7:44104616 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.595+11C>T single nucleotide variant Glycogen storage disease type X [RCV002182643] Chr7:44064821 [GRCh38]
Chr7:44104420 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.489C>T (p.Ala163=) single nucleotide variant Glycogen storage disease type X [RCV002198517] Chr7:44064938 [GRCh38]
Chr7:44104537 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp) single nucleotide variant Glycogen storage disease type X [RCV003110426] Chr7:44064996 [GRCh38]
Chr7:44104595 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.596-8C>T single nucleotide variant Glycogen storage disease type X [RCV003116853] Chr7:44062938 [GRCh38]
Chr7:44102537 [GRCh37]
Chr7:7p13
likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000290.4(PGAM2):c.310GCC[1] (p.Ala105del) microsatellite not provided [RCV002261819] Chr7:44065215..44065217 [GRCh38]
Chr7:44104814..44104816 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_001014436.3(DBNL):c.1079T>C (p.Ile360Thr) single nucleotide variant not specified [RCV004117998] Chr7:44060079 [GRCh38]
Chr7:44099678 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.309G>A (p.Thr103=) single nucleotide variant Glycogen storage disease type X [RCV002775883] Chr7:44065221 [GRCh38]
Chr7:44104820 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.414+9C>T single nucleotide variant Glycogen storage disease type X [RCV003073767] Chr7:44065107 [GRCh38]
Chr7:44104706 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.754-15T>C single nucleotide variant not specified [RCV004135077] Chr7:44058887 [GRCh38]
Chr7:44098486 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr) single nucleotide variant Glycogen storage disease type X [RCV002775280] Chr7:44065471 [GRCh38]
Chr7:44105070 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.558C>T (p.His186=) single nucleotide variant Glycogen storage disease type X [RCV002908319] Chr7:44064869 [GRCh38]
Chr7:44104468 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.595G>A (p.Glu199Lys) single nucleotide variant not specified [RCV004238611] Chr7:44058171 [GRCh38]
Chr7:44097770 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.120C>G (p.Ile40Met) single nucleotide variant not specified [RCV004136644] Chr7:44050261 [GRCh38]
Chr7:44089860 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.125C>T (p.Ala42Val) single nucleotide variant Glycogen storage disease type X [RCV003016922] Chr7:44065405 [GRCh38]
Chr7:44105004 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.504C>T (p.Asn168=) single nucleotide variant Glycogen storage disease type X [RCV002756547] Chr7:44064923 [GRCh38]
Chr7:44104522 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln) single nucleotide variant Glycogen storage disease type X [RCV003073829]|Inborn genetic diseases [RCV003056714] Chr7:44064942 [GRCh38]
Chr7:44104541 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.589C>T (p.Arg197Trp) single nucleotide variant not specified [RCV004142067] Chr7:44058165 [GRCh38]
Chr7:44097764 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met) single nucleotide variant Glycogen storage disease type X [RCV002615241]|Inborn genetic diseases [RCV004068892] Chr7:44065360 [GRCh38]
Chr7:44104959 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr) single nucleotide variant Glycogen storage disease type X [RCV002775570] Chr7:44065369 [GRCh38]
Chr7:44104968 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.222G>A (p.Thr74=) single nucleotide variant Glycogen storage disease type X [RCV002975123] Chr7:44065308 [GRCh38]
Chr7:44104907 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.457G>C (p.Gly153Arg) single nucleotide variant not specified [RCV004135747] Chr7:44056886 [GRCh38]
Chr7:44096485 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.257G>A (p.Arg86His) single nucleotide variant Glycogen storage disease type X [RCV002979125] Chr7:44065273 [GRCh38]
Chr7:44104872 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys) single nucleotide variant Glycogen storage disease type X [RCV002785396] Chr7:44065479 [GRCh38]
Chr7:44105078 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met) single nucleotide variant Glycogen storage disease type X [RCV002952659]|Inborn genetic diseases [RCV003358026]|not provided [RCV003312067] Chr7:44062813 [GRCh38]
Chr7:44102412 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.321C>G (p.His107Gln) single nucleotide variant Inborn genetic diseases [RCV002757526] Chr7:44065209 [GRCh38]
Chr7:44104808 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser) single nucleotide variant Glycogen storage disease type X [RCV003079744] Chr7:44065375 [GRCh38]
Chr7:44104974 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.183G>A (p.Lys61=) single nucleotide variant Glycogen storage disease type X [RCV002761338] Chr7:44065347 [GRCh38]
Chr7:44104946 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.441C>T (p.Pro147=) single nucleotide variant Glycogen storage disease type X [RCV002592016]|not provided [RCV004809905] Chr7:44064986 [GRCh38]
Chr7:44104585 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn) single nucleotide variant Glycogen storage disease type X [RCV002846240] Chr7:44065279 [GRCh38]
Chr7:44104878 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.950C>T (p.Pro317Leu) single nucleotide variant not specified [RCV004227646] Chr7:44059561 [GRCh38]
Chr7:44099160 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.415-4C>T single nucleotide variant Glycogen storage disease type X [RCV002785459] Chr7:44065016 [GRCh38]
Chr7:44104615 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.419G>A (p.Arg140His) single nucleotide variant Glycogen storage disease type X [RCV002574595] Chr7:44065008 [GRCh38]
Chr7:44104607 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter) single nucleotide variant Glycogen storage disease type X [RCV002933216] Chr7:44065296 [GRCh38]
Chr7:44104895 [GRCh37]
Chr7:7p13
pathogenic
NM_000290.4(PGAM2):c.160del (p.Ile54fs) deletion Glycogen storage disease type X [RCV002871913] Chr7:44065370 [GRCh38]
Chr7:44104969 [GRCh37]
Chr7:7p13
pathogenic
NM_000290.4(PGAM2):c.714G>A (p.Thr238=) single nucleotide variant Glycogen storage disease type X [RCV002576185] Chr7:44062812 [GRCh38]
Chr7:44102411 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu) single nucleotide variant Glycogen storage disease type X [RCV003147839]|Inborn genetic diseases [RCV002915672] Chr7:44065162 [GRCh38]
Chr7:44104761 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg) single nucleotide variant Glycogen storage disease type X [RCV002851099] Chr7:44065437 [GRCh38]
Chr7:44105036 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.658C>T (p.Arg220Trp) single nucleotide variant not specified [RCV004187883] Chr7:44058234 [GRCh38]
Chr7:44097833 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met) single nucleotide variant Glycogen storage disease type X [RCV003082504] Chr7:44065309 [GRCh38]
Chr7:44104908 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.718C>G (p.Arg240Gly) single nucleotide variant Inborn genetic diseases [RCV002915798] Chr7:44062808 [GRCh38]
Chr7:44102407 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.184C>T (p.Arg62Trp) single nucleotide variant Inborn genetic diseases [RCV002804024] Chr7:44065346 [GRCh38]
Chr7:44104945 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.15C>T (p.Arg5=) single nucleotide variant Glycogen storage disease type X [RCV002894128] Chr7:44065515 [GRCh38]
Chr7:44105114 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys) single nucleotide variant Glycogen storage disease type X [RCV002642531] Chr7:44065283 [GRCh38]
Chr7:44104882 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.670T>C (p.Tyr224His) single nucleotide variant not specified [RCV004210921] Chr7:44058246 [GRCh38]
Chr7:44097845 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.14G>A (p.Arg5His) single nucleotide variant Glycogen storage disease type X [RCV002632335]|not provided [RCV003149052] Chr7:44065516 [GRCh38]
Chr7:44105115 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys) single nucleotide variant Glycogen storage disease type X [RCV002942057] Chr7:44065424 [GRCh38]
Chr7:44105023 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp) single nucleotide variant Glycogen storage disease type X [RCV002938781]|Inborn genetic diseases [RCV004067224] Chr7:44065502 [GRCh38]
Chr7:44105101 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.596-17T>C single nucleotide variant Glycogen storage disease type X [RCV002633043] Chr7:44062947 [GRCh38]
Chr7:44102546 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys) single nucleotide variant Glycogen storage disease type X [RCV003060095] Chr7:44064967 [GRCh38]
Chr7:44104566 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter) single nucleotide variant Glycogen storage disease type X [RCV003060094] Chr7:44064889 [GRCh38]
Chr7:44104488 [GRCh37]
Chr7:7p13
pathogenic
NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln) single nucleotide variant Glycogen storage disease type X [RCV003060096] Chr7:44065501 [GRCh38]
Chr7:44105100 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.342C>T (p.Ile114=) single nucleotide variant Glycogen storage disease type X [RCV002647299] Chr7:44065188 [GRCh38]
Chr7:44104787 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.1039C>A (p.Pro347Thr) single nucleotide variant not specified [RCV004077952] Chr7:44059650 [GRCh38]
Chr7:44099249 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln) single nucleotide variant Glycogen storage disease type X [RCV002647547] Chr7:44065005 [GRCh38]
Chr7:44104604 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.350G>A (p.Arg117His) single nucleotide variant Glycogen storage disease type X [RCV002937868] Chr7:44065180 [GRCh38]
Chr7:44104779 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln) single nucleotide variant Glycogen storage disease type X [RCV002961949]|Inborn genetic diseases [RCV003250648] Chr7:44062853 [GRCh38]
Chr7:44102452 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.369G>A (p.Pro123=) single nucleotide variant Glycogen storage disease type X [RCV003064897] Chr7:44065161 [GRCh38]
Chr7:44104760 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser) single nucleotide variant Glycogen storage disease type X [RCV003087793]|Inborn genetic diseases [RCV003377871] Chr7:44065279 [GRCh38]
Chr7:44104878 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.318G>C (p.Lys106Asn) single nucleotide variant Inborn genetic diseases [RCV002835531] Chr7:44065212 [GRCh38]
Chr7:44104811 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys) single nucleotide variant Glycogen storage disease type X [RCV002632218] Chr7:44064922 [GRCh38]
Chr7:44104521 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys) single nucleotide variant Glycogen storage disease type X [RCV003086257] Chr7:44065337 [GRCh38]
Chr7:44104936 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.578T>C (p.Ile193Thr) single nucleotide variant Inborn genetic diseases [RCV002831399] Chr7:44064849 [GRCh38]
Chr7:44104448 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.629G>A (p.Arg210Gln) single nucleotide variant not specified [RCV004069609] Chr7:44058205 [GRCh38]
Chr7:44097804 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.569G>A (p.Arg190His) single nucleotide variant not specified [RCV004169412] Chr7:44058145 [GRCh38]
Chr7:44097744 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.595+17G>A single nucleotide variant Glycogen storage disease type X [RCV002630747] Chr7:44064815 [GRCh38]
Chr7:44104414 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu) single nucleotide variant Glycogen storage disease type X [RCV003087831] Chr7:44065394 [GRCh38]
Chr7:44104993 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp) single nucleotide variant Glycogen storage disease type X [RCV002600292] Chr7:44064832 [GRCh38]
Chr7:44104431 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.720G>C (p.Arg240=) single nucleotide variant Glycogen storage disease type X [RCV002603534] Chr7:44062806 [GRCh38]
Chr7:44102405 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.595+3G>T single nucleotide variant Glycogen storage disease type X [RCV003067172] Chr7:44064829 [GRCh38]
Chr7:44104428 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser) single nucleotide variant Glycogen storage disease type X [RCV002584693] Chr7:44065460 [GRCh38]
Chr7:44105059 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys) single nucleotide variant Glycogen storage disease type X [RCV002658045] Chr7:44064926 [GRCh38]
Chr7:44104525 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys) single nucleotide variant Glycogen storage disease type X [RCV003051289] Chr7:44065517 [GRCh38]
Chr7:44105116 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly) single nucleotide variant Glycogen storage disease type X [RCV002586713] Chr7:44065171 [GRCh38]
Chr7:44104770 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.634C>T (p.Arg212Cys) single nucleotide variant not specified [RCV004260398] Chr7:44058210 [GRCh38]
Chr7:44097809 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.1132G>T (p.Ala378Ser) single nucleotide variant not specified [RCV004273260] Chr7:44060132 [GRCh38]
Chr7:44099731 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.743G>A (p.Arg248Gln) single nucleotide variant not specified [RCV004257254] Chr7:44058470 [GRCh38]
Chr7:44098069 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys) single nucleotide variant Glycogen storage disease type X [RCV003134809]|not provided [RCV003332416] Chr7:44065148 [GRCh38]
Chr7:44104747 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro) single nucleotide variant Glycogen storage disease type X [RCV003134810] Chr7:44064942 [GRCh38]
Chr7:44104541 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.1216G>A (p.Glu406Lys) single nucleotide variant not specified [RCV004280583] Chr7:44060839 [GRCh38]
Chr7:44100438 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.482C>T (p.Ala161Val) single nucleotide variant Inborn genetic diseases [RCV003218790] Chr7:44064945 [GRCh38]
Chr7:44104544 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.1022A>C (p.Glu341Ala) single nucleotide variant not specified [RCV004357582] Chr7:44059633 [GRCh38]
Chr7:44099232 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.884C>G (p.Thr295Ser) single nucleotide variant not specified [RCV004341906] Chr7:44059402 [GRCh38]
Chr7:44099001 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.702G>C (p.Gln234His) single nucleotide variant not specified [RCV004350953] Chr7:44058278 [GRCh38]
Chr7:44097877 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1 copy number loss not provided [RCV003482956] Chr7:42516660..46202495 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
NM_001014436.3(DBNL):c.123C>T (p.Arg41=) single nucleotide variant not provided [RCV003433776] Chr7:44050264 [GRCh38]
Chr7:44089863 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.427G>A (p.Ala143Thr) single nucleotide variant PGAM2-related disorder [RCV003427966] Chr7:44065000 [GRCh38]
Chr7:44104599 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.707C>T (p.Thr236Met) single nucleotide variant not provided [RCV003433777] Chr7:44058434 [GRCh38]
Chr7:44098033 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg) single nucleotide variant Glycogen storage disease type X [RCV003495829] Chr7:44064985 [GRCh38]
Chr7:44104584 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.372C>A (p.Pro124=) single nucleotide variant Glycogen storage disease type X [RCV003599631] Chr7:44065158 [GRCh38]
Chr7:44104757 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.330G>A (p.Glu110=) single nucleotide variant Glycogen storage disease type X [RCV003496422] Chr7:44065200 [GRCh38]
Chr7:44104799 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.684G>A (p.Lys228=) single nucleotide variant Glycogen storage disease type X [RCV003597737] Chr7:44062842 [GRCh38]
Chr7:44102441 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.33C>T (p.His11=) single nucleotide variant Glycogen storage disease type X [RCV003496455] Chr7:44065497 [GRCh38]
Chr7:44105096 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter) single nucleotide variant Glycogen storage disease type X [RCV003598360] Chr7:44065357 [GRCh38]
Chr7:44104956 [GRCh37]
Chr7:7p13
pathogenic
NM_000290.4(PGAM2):c.81T>C (p.Asp27=) single nucleotide variant Glycogen storage disease type X [RCV003598751] Chr7:44065449 [GRCh38]
Chr7:44105048 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.300G>A (p.Lys100=) single nucleotide variant Glycogen storage disease type X [RCV003598880] Chr7:44065230 [GRCh38]
Chr7:44104829 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.63T>C (p.Arg21=) single nucleotide variant Glycogen storage disease type X [RCV003598620] Chr7:44065467 [GRCh38]
Chr7:44105066 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.415-12T>G single nucleotide variant Glycogen storage disease type X [RCV003496893] Chr7:44065024 [GRCh38]
Chr7:44104623 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.393C>T (p.Pro131=) single nucleotide variant Glycogen storage disease type X [RCV003849816] Chr7:44065137 [GRCh38]
Chr7:44104736 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.321C>T (p.His107=) single nucleotide variant Glycogen storage disease type X [RCV003819645] Chr7:44065209 [GRCh38]
Chr7:44104808 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.201C>T (p.Leu67=) single nucleotide variant Glycogen storage disease type X [RCV003857253] Chr7:44065329 [GRCh38]
Chr7:44104928 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.976G>A (p.Val326Met) single nucleotide variant not specified [RCV004373026] Chr7:44059587 [GRCh38]
Chr7:44099186 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.988G>C (p.Glu330Gln) single nucleotide variant not specified [RCV004373027] Chr7:44059599 [GRCh38]
Chr7:44099198 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.656G>T (p.Arg219Leu) single nucleotide variant not specified [RCV004373028] Chr7:44058232 [GRCh38]
Chr7:44097831 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.754-11C>T single nucleotide variant not specified [RCV004373029] Chr7:44058891 [GRCh38]
Chr7:44098490 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.901C>G (p.Pro301Ala) single nucleotide variant not specified [RCV004373030] Chr7:44059419 [GRCh38]
Chr7:44099018 [GRCh37]
Chr7:7p13
uncertain significance
NM_001014436.3(DBNL):c.953C>T (p.Ala318Val) single nucleotide variant not specified [RCV004373031] Chr7:44059564 [GRCh38]
Chr7:44099163 [GRCh37]
Chr7:7p13
likely benign
NM_001014436.3(DBNL):c.957C>T (p.Pro319=) single nucleotide variant not provided [RCV003885615] Chr7:44059568 [GRCh38]
Chr7:44099167 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.45A>T (p.Thr15=) single nucleotide variant PGAM2-related disorder [RCV003964130] Chr7:44065485 [GRCh38]
Chr7:44105084 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.313G>A (p.Ala105Thr) single nucleotide variant Inborn genetic diseases [RCV004498493] Chr7:44065217 [GRCh38]
Chr7:44104816 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.281G>A (p.Gly94Asp) single nucleotide variant Inborn genetic diseases [RCV004498492] Chr7:44065249 [GRCh38]
Chr7:44104848 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.59A>G (p.Asn20Ser) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557885] Chr7:44065471 [GRCh38]
Chr7:44105070 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.192C>G (p.Ile64Met) single nucleotide variant Inborn genetic diseases [RCV004498491] Chr7:44065338 [GRCh38]
Chr7:44104937 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.334G>A (p.Val112Met) single nucleotide variant Inborn genetic diseases [RCV004655781] Chr7:44065196 [GRCh38]
Chr7:44104795 [GRCh37]
Chr7:7p13
uncertain significance
NM_000290.4(PGAM2):c.427G>C (p.Ala143Pro) single nucleotide variant Inborn genetic diseases [RCV004659901] Chr7:44065000 [GRCh38]
Chr7:44104599 [GRCh37]
Chr7:7p13
uncertain significance
NC_000007.13:g.(?_43810758)_(45977174_?)del deletion not provided [RCV004578545] Chr7:43810758..45977174 [GRCh37]
Chr7:7p13-12.3
uncertain significance
NM_000290.4(PGAM2):c.357C>T (p.Phe119=) single nucleotide variant PGAM2-related disorder [RCV004756751] Chr7:44065173 [GRCh38]
Chr7:44104772 [GRCh37]
Chr7:7p13
likely benign
NM_000290.4(PGAM2):c.635C>T (p.Thr212Met) single nucleotide variant not provided [RCV004793054] Chr7:44062891 [GRCh38]
Chr7:44102490 [GRCh37]
Chr7:7p13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12029
Count of miRNA genes:1369
Interacting mature miRNAs:1848
Transcripts:ENST00000411855, ENST00000423561, ENST00000429716, ENST00000432854, ENST00000439815, ENST00000439983, ENST00000440166, ENST00000441840, ENST00000441904, ENST00000448521, ENST00000449997, ENST00000452661, ENST00000452943, ENST00000456905, ENST00000458579, ENST00000464762, ENST00000468694, ENST00000485932, ENST00000490734, ENST00000494774, ENST00000497184, ENST00000498733
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
597232121GWAS1328195_Hblood protein measurement QTL GWAS1328195 (human)3e-59blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597233371GWAS1329445_Hblood protein measurement QTL GWAS1329445 (human)5e-115blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597233373GWAS1329447_Hblood protein measurement QTL GWAS1329447 (human)8e-207blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597232560GWAS1328634_Hblood protein measurement QTL GWAS1328634 (human)1e-33blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597233360GWAS1329434_Hblood protein measurement QTL GWAS1329434 (human)2e-166blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597233619GWAS1329693_Hblood protein measurement QTL GWAS1329693 (human)2e-61blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
597233364GWAS1329438_Hblood protein measurement QTL GWAS1329438 (human)5e-251blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597232567GWAS1328641_Hblood protein measurement QTL GWAS1328641 (human)5e-81blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
597235208GWAS1331282_Hblood protein measurement QTL GWAS1331282 (human)2e-269blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597232811GWAS1328885_Hblood protein measurement QTL GWAS1328885 (human)4e-97blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
597232834GWAS1328908_Hblood protein measurement QTL GWAS1328908 (human)4e-251blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)74406077444060775Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human
597357413GWAS1453487_Hbody height QTL GWAS1453487 (human)7e-11body height (VT:0001253)body height (CMO:0000106)74406077444060775Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001014436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC017116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF197060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC404852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT220937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000411855   ⟹   ENSP00000390397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,720 - 44,061,237 (+)Ensembl
Ensembl Acc Id: ENST00000423561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,730 - 44,057,933 (+)Ensembl
Ensembl Acc Id: ENST00000429716   ⟹   ENSP00000400817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,708 - 44,061,328 (+)Ensembl
Ensembl Acc Id: ENST00000432854   ⟹   ENSP00000398931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,050,244 - 44,069,456 (+)Ensembl
Ensembl Acc Id: ENST00000439815   ⟹   ENSP00000410681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,702 - 44,058,493 (+)Ensembl
Ensembl Acc Id: ENST00000439983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,676 - 44,050,694 (+)Ensembl
Ensembl Acc Id: ENST00000440166   ⟹   ENSP00000415173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,676 - 44,061,145 (+)Ensembl
Ensembl Acc Id: ENST00000441840   ⟹   ENSP00000392113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,686 - 44,061,609 (+)Ensembl
Ensembl Acc Id: ENST00000441904   ⟹   ENSP00000415395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,717 - 44,059,442 (+)Ensembl
Ensembl Acc Id: ENST00000448521   ⟹   ENSP00000411701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,702 - 44,069,456 (+)Ensembl
Ensembl Acc Id: ENST00000449997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,056,793 - 44,061,714 (+)Ensembl
Ensembl Acc Id: ENST00000452661   ⟹   ENSP00000397855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,058,930 - 44,061,397 (+)Ensembl
Ensembl Acc Id: ENST00000452943   ⟹   ENSP00000405343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,702 - 44,061,172 (+)Ensembl
Ensembl Acc Id: ENST00000456905   ⟹   ENSP00000416421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,673 - 44,060,943 (+)Ensembl
Ensembl Acc Id: ENST00000458579   ⟹   ENSP00000403372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,675 - 44,058,075 (+)Ensembl
Ensembl Acc Id: ENST00000464762   ⟹   ENSP00000418006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,702 - 44,058,223 (+)Ensembl
Ensembl Acc Id: ENST00000468694   ⟹   ENSP00000417653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,711 - 44,061,637 (+)Ensembl
Ensembl Acc Id: ENST00000485932   ⟹   ENSP00000418301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,706 - 44,058,263 (+)Ensembl
Ensembl Acc Id: ENST00000490734   ⟹   ENSP00000417749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,640 - 44,061,714 (+)Ensembl
Ensembl Acc Id: ENST00000494774   ⟹   ENSP00000419992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,717 - 44,061,716 (+)Ensembl
Ensembl Acc Id: ENST00000497184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,049,884 - 44,061,637 (+)Ensembl
Ensembl Acc Id: ENST00000498733   ⟹   ENSP00000418978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,044,702 - 44,060,939 (+)Ensembl
RefSeq Acc Id: NM_001014436   ⟹   NP_001014436
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,069,456 (+)NCBI
GRCh37744,084,239 - 44,101,315 (+)NCBI
Build 36744,050,830 - 44,067,840 (+)NCBI Archive
HuRef743,969,523 - 43,986,598 (+)ENTREZGENE
CHM1_1744,088,113 - 44,105,189 (+)NCBI
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBI
CRA_TCAGchr7v2744,123,733 - 44,140,805 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001122956   ⟹   NP_001116428
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,069,456 (+)NCBI
GRCh37744,084,239 - 44,101,315 (+)NCBI
HuRef743,969,523 - 43,986,598 (+)ENTREZGENE
CHM1_1744,088,113 - 44,105,189 (+)NCBI
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBI
CRA_TCAGchr7v2744,123,733 - 44,140,805 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001284313   ⟹   NP_001271242
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,069,456 (+)NCBI
HuRef743,969,523 - 43,986,598 (+)NCBI
CHM1_1744,088,113 - 44,105,189 (+)NCBI
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284315   ⟹   NP_001271244
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,069,456 (+)NCBI
HuRef743,969,523 - 43,986,598 (+)NCBI
CHM1_1744,088,113 - 44,105,189 (+)NCBI
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362723   ⟹   NP_001349652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,069,456 (+)NCBI
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014063   ⟹   NP_054782
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,069,456 (+)NCBI
GRCh37744,084,239 - 44,101,315 (+)NCBI
Build 36744,050,830 - 44,067,840 (+)NCBI Archive
HuRef743,969,523 - 43,986,598 (+)ENTREZGENE
CHM1_1744,088,113 - 44,105,189 (+)NCBI
T2T-CHM13v2.0744,203,197 - 44,227,954 (+)NCBI
CRA_TCAGchr7v2744,123,733 - 44,140,805 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001014436 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116428 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271242 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271244 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349652 (Get FASTA)   NCBI Sequence Viewer  
  NP_054782 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF13701 (Get FASTA)   NCBI Sequence Viewer  
  AAF80228 (Get FASTA)   NCBI Sequence Viewer  
  AAF81273 (Get FASTA)   NCBI Sequence Viewer  
  AAG13120 (Get FASTA)   NCBI Sequence Viewer  
  AAG17262 (Get FASTA)   NCBI Sequence Viewer  
  AAH11677 (Get FASTA)   NCBI Sequence Viewer  
  AAH31687 (Get FASTA)   NCBI Sequence Viewer  
  BAB55065 (Get FASTA)   NCBI Sequence Viewer  
  BAD92723 (Get FASTA)   NCBI Sequence Viewer  
  BAG56697 (Get FASTA)   NCBI Sequence Viewer  
  BAG56807 (Get FASTA)   NCBI Sequence Viewer  
  BAG56856 (Get FASTA)   NCBI Sequence Viewer  
  BAG57133 (Get FASTA)   NCBI Sequence Viewer  
  BAG59356 (Get FASTA)   NCBI Sequence Viewer  
  BAG60387 (Get FASTA)   NCBI Sequence Viewer  
  BAG62321 (Get FASTA)   NCBI Sequence Viewer  
  BAG63431 (Get FASTA)   NCBI Sequence Viewer  
  CAG33448 (Get FASTA)   NCBI Sequence Viewer  
  EAL23770 (Get FASTA)   NCBI Sequence Viewer  
  EAW61129 (Get FASTA)   NCBI Sequence Viewer  
  EAW61130 (Get FASTA)   NCBI Sequence Viewer  
  EAW61131 (Get FASTA)   NCBI Sequence Viewer  
  EAW61132 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000390397.1
  ENSP00000392113.2
  ENSP00000397855.1
  ENSP00000398931.1
  ENSP00000400817.1
  ENSP00000403372.1
  ENSP00000405343.1
  ENSP00000410681.1
  ENSP00000411701
  ENSP00000411701.1
  ENSP00000415173
  ENSP00000415173.1
  ENSP00000415395.1
  ENSP00000416421.1
  ENSP00000417653
  ENSP00000417653.1
  ENSP00000417749
  ENSP00000417749.2
  ENSP00000418006.1
  ENSP00000418301.1
  ENSP00000418978.1
  ENSP00000419992
  ENSP00000419992.1
GenBank Protein Q9UJU6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001116428   ⟸   NM_001122956
- Peptide Label: isoform c
- UniProtKB: B4DDD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_054782   ⟸   NM_014063
- Peptide Label: isoform a
- UniProtKB: B4DDD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014436   ⟸   NM_001014436
- Peptide Label: isoform b
- UniProtKB: Q9UJU6 (UniProtKB/Swiss-Prot),   Q9NR72 (UniProtKB/Swiss-Prot),   Q9HBN8 (UniProtKB/Swiss-Prot),   Q96K74 (UniProtKB/Swiss-Prot),   Q96F30 (UniProtKB/Swiss-Prot),   Q6IAI8 (UniProtKB/Swiss-Prot),   P84070 (UniProtKB/Swiss-Prot),   C9J7P1 (UniProtKB/Swiss-Prot),   B4DEM2 (UniProtKB/Swiss-Prot),   B4DDP6 (UniProtKB/Swiss-Prot),   A4D2I9 (UniProtKB/Swiss-Prot),   B4DDD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271244   ⟸   NM_001284315
- Peptide Label: isoform e
- UniProtKB: B4DUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271242   ⟸   NM_001284313
- Peptide Label: isoform d
- UniProtKB: B4DUF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349652   ⟸   NM_001362723
- Peptide Label: isoform f
- UniProtKB: B4DDD6 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000418006   ⟸   ENST00000464762
Ensembl Acc Id: ENSP00000410681   ⟸   ENST00000439815
Ensembl Acc Id: ENSP00000390397   ⟸   ENST00000411855
Ensembl Acc Id: ENSP00000417749   ⟸   ENST00000490734
Ensembl Acc Id: ENSP00000397855   ⟸   ENST00000452661
Ensembl Acc Id: ENSP00000405343   ⟸   ENST00000452943
Ensembl Acc Id: ENSP00000417653   ⟸   ENST00000468694
Ensembl Acc Id: ENSP00000415173   ⟸   ENST00000440166
Ensembl Acc Id: ENSP00000400817   ⟸   ENST00000429716
Ensembl Acc Id: ENSP00000419992   ⟸   ENST00000494774
Ensembl Acc Id: ENSP00000415395   ⟸   ENST00000441904
Ensembl Acc Id: ENSP00000392113   ⟸   ENST00000441840
Ensembl Acc Id: ENSP00000416421   ⟸   ENST00000456905
Ensembl Acc Id: ENSP00000403372   ⟸   ENST00000458579
Ensembl Acc Id: ENSP00000418978   ⟸   ENST00000498733
Ensembl Acc Id: ENSP00000418301   ⟸   ENST00000485932
Ensembl Acc Id: ENSP00000398931   ⟸   ENST00000432854
Ensembl Acc Id: ENSP00000411701   ⟸   ENST00000448521
Protein Domains
ADF-H   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJU6-F1-model_v2 AlphaFold Q9UJU6 1-430 view protein structure

Promoters
RGD ID:7210483
Promoter ID:EPDNEW_H10987
Type:initiation region
Name:DBNL_1
Description:drebrin like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,044,702 - 44,044,762EPDNEW
RGD ID:6805444
Promoter ID:HG_KWN:57198
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:NM_001014436,   NM_001122956,   NM_014063,   OTTHUMT00000339572,   OTTHUMT00000339573,   OTTHUMT00000339574,   OTTHUMT00000339575,   OTTHUMT00000339576,   OTTHUMT00000339577,   OTTHUMT00000339578,   OTTHUMT00000339582,   OTTHUMT00000339583,   OTTHUMT00000339584,   OTTHUMT00000339585,   OTTHUMT00000339586,   OTTHUMT00000339587,   UC003TJN.2,   UC003TJR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,050,474 - 44,050,974 (+)MPROMDB
RGD ID:6851034
Promoter ID:EP73314
Type:multiple initiation site
Name:HS_HIP
Description:Src homology 3 domain-containing protein HIP-55.
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 36744,050,932 - 44,050,992EPD
RGD ID:6805430
Promoter ID:HG_KWN:57199
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000339579,   OTTHUMT00000339580
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,055,831 - 44,057,717 (+)MPROMDB
RGD ID:6805432
Promoter ID:HG_KWN:57200
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000339581
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,062,829 - 44,063,329 (+)MPROMDB
RGD ID:6805431
Promoter ID:HG_KWN:57201
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000339588
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,064,211 - 44,065,467 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2696 AgrOrtholog
COSMIC DBNL COSMIC
Ensembl Genes ENSG00000136279 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000411855.5 UniProtKB/TrEMBL
  ENST00000429716.5 UniProtKB/TrEMBL
  ENST00000432854.5 UniProtKB/TrEMBL
  ENST00000439815.5 UniProtKB/TrEMBL
  ENST00000440166 ENTREZGENE
  ENST00000440166.5 UniProtKB/Swiss-Prot
  ENST00000441840.7 UniProtKB/TrEMBL
  ENST00000441904.5 UniProtKB/TrEMBL
  ENST00000448521 ENTREZGENE
  ENST00000448521.6 UniProtKB/Swiss-Prot
  ENST00000452661.1 UniProtKB/TrEMBL
  ENST00000452943.5 UniProtKB/TrEMBL
  ENST00000456905.5 UniProtKB/Swiss-Prot
  ENST00000458579.5 UniProtKB/TrEMBL
  ENST00000464762.5 UniProtKB/TrEMBL
  ENST00000468694 ENTREZGENE
  ENST00000468694.5 UniProtKB/Swiss-Prot
  ENST00000485932.5 UniProtKB/TrEMBL
  ENST00000490734 ENTREZGENE
  ENST00000490734.6 UniProtKB/Swiss-Prot
  ENST00000494774 ENTREZGENE
  ENST00000494774.5 UniProtKB/Swiss-Prot
  ENST00000498733.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136279 GTEx
HGNC ID HGNC:2696 ENTREZGENE
Human Proteome Map DBNL Human Proteome Map
InterPro ADF-H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADF-H/Gelsolin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Drebrin-like_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28988 UniProtKB/Swiss-Prot
NCBI Gene DBNL ENTREZGENE
OMIM 610106 OMIM
PANTHER CORTACTIN AND DREBRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10829:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cofilin_ADF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27164 PharmGKB
PRINTS SH3DOMAIN UniProtKB/TrEMBL
PROSITE ADF_H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ADF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Actin depolymerizing proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D2I9 ENTREZGENE
  B4DDD6 ENTREZGENE, UniProtKB/TrEMBL
  B4DDP6 ENTREZGENE
  B4DEM2 ENTREZGENE
  B4DUF9 ENTREZGENE, UniProtKB/TrEMBL
  C9J7P1 ENTREZGENE
  DBNL_HUMAN UniProtKB/Swiss-Prot
  F2Z2V3_HUMAN UniProtKB/TrEMBL
  F2Z3E3_HUMAN UniProtKB/TrEMBL
  F8WB73_HUMAN UniProtKB/TrEMBL
  F8WBB2_HUMAN UniProtKB/TrEMBL
  F8WBG8_HUMAN UniProtKB/TrEMBL
  F8WC20_HUMAN UniProtKB/TrEMBL
  F8WCK3_HUMAN UniProtKB/TrEMBL
  F8WFE1_HUMAN UniProtKB/TrEMBL
  H0Y5J4_HUMAN UniProtKB/TrEMBL
  H7C111_HUMAN UniProtKB/TrEMBL
  P84070 ENTREZGENE
  Q6IAI8 ENTREZGENE
  Q96F30 ENTREZGENE
  Q96K74 ENTREZGENE
  Q9HBN8 ENTREZGENE
  Q9NR72 ENTREZGENE
  Q9UJU6 ENTREZGENE
UniProt Secondary A4D2I9 UniProtKB/Swiss-Prot
  B4DDP6 UniProtKB/Swiss-Prot
  B4DEM2 UniProtKB/Swiss-Prot
  C9J7P1 UniProtKB/Swiss-Prot
  P84070 UniProtKB/Swiss-Prot
  Q6IAI8 UniProtKB/Swiss-Prot
  Q96F30 UniProtKB/Swiss-Prot
  Q96K74 UniProtKB/Swiss-Prot
  Q9HBN8 UniProtKB/Swiss-Prot
  Q9NR72 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 DBNL  drebrin like    drebrin-like  Symbol and/or name change 5135510 APPROVED