ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase) Homo sapiens
Analyze
Symbol: ATIC
Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
RGD ID: 731594
HGNC Page HGNC:794
Description: Enables IMP cyclohydrolase activity and protein homodimerization activity. Involved in purine ribonucleoside monophosphate biosynthetic process. Located in cytosol and plasma membrane. Implicated in purine-pyrimidine metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp; 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase; AICAR; AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme; AICAR transformylase/inosine monophosphate cyclohydrolase; AICARFT; AICARFT/IMPCHASE; bifunctional purine biosynthesis protein ATIC; bifunctional purine biosynthesis protein PURH; epididymis secretory sperm binding protein Li 70p; FLJ93545; HEL-S-70p; IMPCHASE; phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase; PURH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC107385.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382215,312,059 - 215,368,592 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2215,311,956 - 215,349,773 (+)EnsemblGRCh38hg38GRCh38
GRCh372216,176,782 - 216,214,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362215,885,081 - 215,922,724 (+)NCBINCBI36Build 36hg18NCBI36
Build 342216,002,341 - 216,039,983NCBI
Celera2209,946,316 - 209,984,125 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2208,033,447 - 208,071,522 (+)NCBIHuRef
CHM1_12216,182,580 - 216,220,395 (+)NCBICHM1_1
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
Brodifacoum  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
DDE  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furfural  (EXP)
genistein  (EXP)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
ivermectin  (EXP)
menadione  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
Nutlin-3  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
Salinomycin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
T-2 toxin  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
extracellular exosome  (HDA)
membrane  (HDA)
plasma membrane  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Molecular cloning and expression of a rat cDNA encoding 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Akira T, etal., Gene 1997 Sep 15;197(1-2):289-93.
2. Methotrexate and erythro-9-(2-hydroxynon-3-yl) adenine therapy for rat adjuvant arthritis and the effect of methotrexate on in vivo purine metabolism. Baggott JE and Morgan SL, Eur J Pharm Sci. 2007 Jun;31(2):95-101. Epub 2007 Mar 1.
3. Pediatric neurological syndromes and inborn errors of purine metabolism. Camici M, etal., Neurochem Int. 2010 Feb;56(3):367-78. Epub 2009 Dec 11.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Marie S, etal., Am J Hum Genet. 2004 Jun;74(6):1276-81. Epub 2004 Apr 26.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Trafficking of intracellular folates. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/¿an.111.000596. Epub 2011 Jun 28.
Additional References at PubMed
PMID:1286667   PMID:1574589   PMID:8567683   PMID:8867801   PMID:9378707   PMID:9598063   PMID:11096114   PMID:11948179   PMID:12477932   PMID:14756553   PMID:14966129   PMID:15457444  
PMID:15489334   PMID:15677700   PMID:16009940   PMID:16049007   PMID:16344560   PMID:16447238   PMID:16947783   PMID:17009228   PMID:17181924   PMID:17353931   PMID:17410198   PMID:17439323  
PMID:17530705   PMID:17617058   PMID:18845790   PMID:19016697   PMID:19056867   PMID:19161160   PMID:19193698   PMID:19858780   PMID:19902562   PMID:19913121   PMID:19936946   PMID:19946888  
PMID:20029029   PMID:20458337   PMID:20628086   PMID:20634891   PMID:20877624   PMID:21301993   PMID:21319273   PMID:21873635   PMID:22180458   PMID:22586326   PMID:22863883   PMID:22939629  
PMID:23533145   PMID:24711643   PMID:24967362   PMID:25084201   PMID:25240429   PMID:25425682   PMID:25468996   PMID:25665578   PMID:25687571   PMID:25823786   PMID:25921289   PMID:26344197  
PMID:26514267   PMID:26588576   PMID:26641092   PMID:26799664   PMID:27342126   PMID:27379764   PMID:27684187   PMID:28267080   PMID:28581483   PMID:29042184   PMID:29246230   PMID:29467282  
PMID:29676528   PMID:30097533   PMID:30575818   PMID:30809309   PMID:30884312   PMID:30948266   PMID:31073040   PMID:31300519   PMID:31536960   PMID:31586073   PMID:31980649   PMID:32416067  
PMID:32513696   PMID:32529326   PMID:32557644   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32963011   PMID:32989298   PMID:32994395   PMID:33111431   PMID:33226137   PMID:33226193  
PMID:33417871   PMID:33729478   PMID:33778066   PMID:33780152   PMID:33916271   PMID:33995658   PMID:34189442   PMID:34373451   PMID:34428256   PMID:34591612   PMID:34645483   PMID:34672954  
PMID:34709727   PMID:35205374   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35559673   PMID:35579772   PMID:35676659   PMID:35776542   PMID:35831314   PMID:35914814  
PMID:35944360   PMID:36168627   PMID:36215168   PMID:36225252   PMID:36369321   PMID:36517590   PMID:36584330   PMID:36736316   PMID:36861887   PMID:37223481   PMID:37314180   PMID:37422473  
PMID:37468549   PMID:37827155   PMID:38071832   PMID:38113892   PMID:38496616   PMID:39001904   PMID:39147351  


Genomics

Comparative Map Data
ATIC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382215,312,059 - 215,368,592 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2215,311,956 - 215,349,773 (+)EnsemblGRCh38hg38GRCh38
GRCh372216,176,782 - 216,214,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362215,885,081 - 215,922,724 (+)NCBINCBI36Build 36hg18NCBI36
Build 342216,002,341 - 216,039,983NCBI
Celera2209,946,316 - 209,984,125 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2208,033,447 - 208,071,522 (+)NCBIHuRef
CHM1_12216,182,580 - 216,220,395 (+)NCBICHM1_1
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBIT2T-CHM13v2.0
Atic
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39171,596,315 - 71,618,562 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl171,596,309 - 71,618,790 (+)EnsemblGRCm39 Ensembl
GRCm38171,557,156 - 71,579,403 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl171,557,150 - 71,579,631 (+)EnsemblGRCm38mm10GRCm38
MGSCv37171,603,730 - 71,625,977 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36171,490,382 - 71,512,612 (+)NCBIMGSCv36mm8
Celera172,112,478 - 72,134,887 (+)NCBICelera
Cytogenetic Map1C3NCBI
cM Map136.03NCBI
Atic
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8980,614,311 - 80,634,360 (+)NCBIGRCr8
mRatBN7.2973,164,846 - 73,184,897 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl973,164,846 - 73,184,889 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx981,636,634 - 81,656,672 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0986,765,482 - 86,785,520 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0985,155,750 - 85,175,788 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0978,862,013 - 78,882,061 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl978,862,013 - 78,882,060 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0978,636,339 - 78,656,387 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4970,676,744 - 70,696,865 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1970,823,725 - 70,843,846 (+)NCBI
Celera970,582,456 - 70,602,475 (+)NCBICelera
Cytogenetic Map9q33NCBI
Atic
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955457704,213 - 730,134 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955457704,213 - 729,702 (-)NCBIChiLan1.0ChiLan1.0
ATIC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213117,940,800 - 118,001,222 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B117,955,739 - 118,005,747 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B102,574,700 - 102,612,492 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B221,159,439 - 221,197,360 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B221,159,439 - 221,197,360 (+)Ensemblpanpan1.1panPan2
ATIC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13722,420,645 - 22,446,769 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3722,420,603 - 22,446,697 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3723,247,318 - 23,273,326 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03722,443,734 - 22,469,844 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3722,443,400 - 22,469,837 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13722,332,320 - 22,358,260 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03722,283,592 - 22,309,634 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03722,300,293 - 22,326,226 (+)NCBIUU_Cfam_GSD_1.0
Atic
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303170,816,360 - 170,843,277 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365861,782,528 - 1,810,010 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365861,782,581 - 1,809,458 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATIC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15117,617,502 - 117,649,107 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115117,617,584 - 117,649,063 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215130,321,702 - 130,348,801 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATIC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110101,128,583 - 101,166,668 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604098,215,624 - 98,252,491 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atic
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624765782,701 - 809,448 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624765782,703 - 809,461 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATIC
236 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) single nucleotide variant AICA-ribosiduria [RCV000008253]|See cases [RCV004584318]|not provided [RCV001851731] Chr2:215344828 [GRCh38]
Chr2:216209551 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|uncertain significance
NM_004044.7(ATIC):c.131delinsGGA (p.Ala44fs) indel AICA-ribosiduria [RCV000008254] Chr2:215312609 [GRCh38]
Chr2:216177332 [GRCh37]
Chr2:2q35		 pathogenic
GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3 copy number gain See cases [RCV000051118] Chr2:213912976..215939299 [GRCh38]
Chr2:214777700..216804022 [GRCh37]
Chr2:214485945..216512267 [NCBI36]
Chr2:2q34-35		 uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:215079289-216799770)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|See cases [RCV000052731] Chr2:215079289..216799770 [GRCh38]
Chr2:215944012..217664493 [GRCh37]
Chr2:215652257..217372738 [NCBI36]
Chr2:2q35		 uncertain significance
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 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_004044.6(ATIC):c.807C>T (p.Ser269=) single nucleotide variant Malignant melanoma [RCV000065409] Chr2:215332500 [GRCh38]
Chr2:216197223 [GRCh37]
Chr2:215905468 [NCBI36]
Chr2:2q35		 not provided
NM_004044.6(ATIC):c.1071G>A (p.Lys357=) single nucleotide variant Malignant melanoma [RCV000060491] Chr2:215336097 [GRCh38]
Chr2:216200820 [GRCh37]
Chr2:215909065 [NCBI36]
Chr2:2q35		 not provided
NM_004044.7(ATIC):c.380-18G>A single nucleotide variant AICA-ribosiduria [RCV002476027]|not provided [RCV000514991] Chr2:215325969 [GRCh38]
Chr2:216190692 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.147-111A>T single nucleotide variant AICA-ribosiduria [RCV001553929]|not provided [RCV004709105] Chr2:215318046 [GRCh38]
Chr2:216182769 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1228-30A>G single nucleotide variant AICA-ribosiduria [RCV001553932]|not provided [RCV004710314] Chr2:215344749 [GRCh38]
Chr2:216209472 [GRCh37]
Chr2:2q35		 benign
GRCh38/hg38 2q35(chr2:214785851-215383000)x3 copy number gain See cases [RCV000134715] Chr2:214785851..215383000 [GRCh38]
Chr2:215650575..216247723 [GRCh37]
Chr2:215358820..215955968 [NCBI36]
Chr2:2q35		 uncertain significance
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 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 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
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val) single nucleotide variant AICA-ribosiduria [RCV002506240]|not provided [RCV000513737] Chr2:215349546 [GRCh38]
Chr2:216214269 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_004044.7(ATIC):c.1503+675T>C single nucleotide variant methotrexate response - Efficacy [RCV000211326]|not provided [RCV002054365] Chr2:215347616 [GRCh38]
Chr2:216212339 [GRCh37]
Chr2:2q35		 benign|drug response
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
NM_004044.7(ATIC):c.1234G>A (p.Glu412Lys) single nucleotide variant not provided [RCV000441319] Chr2:215344785 [GRCh38]
Chr2:216209508 [GRCh37]
Chr2:2q35		 benign|likely benign
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 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 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 2q34-35(chr2:215224612-216544927)x4 copy number gain See cases [RCV000510896] Chr2:215224612..216544927 [GRCh37]
Chr2:2q34-35		 uncertain significance
NM_004044.7(ATIC):c.428C>G (p.Thr143Arg) single nucleotide variant not specified [RCV004328705] Chr2:215326035 [GRCh38]
Chr2:216190758 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1373C>G (p.Ala458Gly) single nucleotide variant not specified [RCV004322046] Chr2:215346811 [GRCh38]
Chr2:216211534 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1540G>A (p.Glu514Lys) single nucleotide variant not specified [RCV004325679] Chr2:215349130 [GRCh38]
Chr2:216213853 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1751A>G (p.His584Arg) single nucleotide variant AICA-ribosiduria [RCV000662033]|not provided [RCV001855397]|not specified [RCV004026065] Chr2:215349627 [GRCh38]
Chr2:216214350 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
NM_004044.7(ATIC):c.794del (p.Phe265fs) deletion AICA-ribosiduria [RCV000680216] Chr2:215332485 [GRCh38]
Chr2:216197208 [GRCh37]
Chr2:2q35		 uncertain significance
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
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_004044.7(ATIC):c.435G>A (p.Val145=) single nucleotide variant ATIC-related disorder [RCV003950626]|not provided [RCV000904278] Chr2:215326042 [GRCh38]
Chr2:216190765 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1494C>G (p.Thr498=) single nucleotide variant AICA-ribosiduria [RCV002503037]|not provided [RCV000966301] Chr2:215346932 [GRCh38]
Chr2:216211655 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_004044.7(ATIC):c.1257C>T (p.Ile419=) single nucleotide variant not provided [RCV000920072] Chr2:215344808 [GRCh38]
Chr2:216209531 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1710T>C (p.Val570=) single nucleotide variant not provided [RCV000901868] Chr2:215349586 [GRCh38]
Chr2:216214309 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.595A>G (p.Lys199Glu) single nucleotide variant ATIC-related disorder [RCV003970520]|not provided [RCV000924309] Chr2:215326885 [GRCh38]
Chr2:216191608 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_004044.7(ATIC):c.5C>T (p.Ala2Val) single nucleotide variant AICA-ribosiduria [RCV002489395]|Intellectual disability [RCV001252418]|not provided [RCV000967982] Chr2:215312147 [GRCh38]
Chr2:216176870 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_004044.7(ATIC):c.1488T>C (p.Thr496=) single nucleotide variant not provided [RCV000902095] Chr2:215346926 [GRCh38]
Chr2:216211649 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1014T>C (p.Ser338=) single nucleotide variant ATIC-related disorder [RCV003923047]|not provided [RCV000904767] Chr2:215336040 [GRCh38]
Chr2:216200763 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.955G>A (p.Val319Ile) single nucleotide variant not provided [RCV000903266]|not specified [RCV001726367] Chr2:215334951 [GRCh38]
Chr2:216199674 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_004044.7(ATIC):c.783C>T (p.Ala261=) single nucleotide variant not provided [RCV000922268] Chr2:215332476 [GRCh38]
Chr2:216197199 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.402T>C (p.Ala134=) single nucleotide variant not provided [RCV000908347] Chr2:215326009 [GRCh38]
Chr2:216190732 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.502T>C (p.Leu168=) single nucleotide variant not provided [RCV000964407] Chr2:215326109 [GRCh38]
Chr2:216190832 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1767C>A (p.Leu589=) single nucleotide variant not provided [RCV000896118] Chr2:215349643 [GRCh38]
Chr2:216214366 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1305C>T (p.Tyr435=) single nucleotide variant not provided [RCV000880751] Chr2:215344856 [GRCh38]
Chr2:216209579 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.548C>A (p.Ala183Glu) single nucleotide variant AICA-ribosiduria [RCV000791077]|not provided [RCV003546603]|not specified [RCV004027384] Chr2:215326838 [GRCh38]
Chr2:216191561 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) single nucleotide variant AICA-ribosiduria [RCV000824900] Chr2:215326013 [GRCh38]
Chr2:216190736 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) single nucleotide variant AICA-ribosiduria [RCV000987027]|ATIC-related disorder [RCV003972998]|not provided [RCV002067574] Chr2:215325297 [GRCh38]
Chr2:216190020 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys) single nucleotide variant AICA-ribosiduria [RCV000987028] Chr2:215336111 [GRCh38]
Chr2:216200834 [GRCh37]
Chr2:2q35		 likely pathogenic
Single allele deletion Encephalopathy [RCV000787417] Chr2:215485042..216474011 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter) single nucleotide variant AICA-ribosiduria [RCV000824901] Chr2:215349244 [GRCh38]
Chr2:216213967 [GRCh37]
Chr2:2q35		 pathogenic
NM_004044.7(ATIC):c.1453G>A (p.Ala485Thr) single nucleotide variant not specified [RCV004303046] Chr2:215346891 [GRCh38]
Chr2:216211614 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6922G>A (p.Val2308Ile) single nucleotide variant Inborn genetic diseases [RCV003294608]|not provided [RCV003104515] Chr2:215367959 [GRCh38]
Chr2:216232682 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_004044.7(ATIC):c.1408C>T (p.His470Tyr) single nucleotide variant not specified [RCV004293836] Chr2:215346846 [GRCh38]
Chr2:216211569 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1597G>A (p.Glu533Lys) single nucleotide variant ATIC-related disorder [RCV003958062]|not provided [RCV000896626] Chr2:215349187 [GRCh38]
Chr2:216213910 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.224-8T>A single nucleotide variant ATIC-related disorder [RCV003925957]|not provided [RCV000952505] Chr2:215319657 [GRCh38]
Chr2:216184380 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.573T>G (p.Asp191Glu) single nucleotide variant not provided [RCV000894718] Chr2:215326863 [GRCh38]
Chr2:216191586 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.281A>G (p.Asn94Ser) single nucleotide variant not provided [RCV000974944] Chr2:215319722 [GRCh38]
Chr2:216184445 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.399A>G (p.Arg133=) single nucleotide variant not provided [RCV000897285] Chr2:215326006 [GRCh38]
Chr2:216190729 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.600C>T (p.Gly200=) single nucleotide variant not provided [RCV000882444] Chr2:215326890 [GRCh38]
Chr2:216191613 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp) single nucleotide variant AICA-ribosiduria [RCV002479104]|not provided [RCV000956032] Chr2:215346937 [GRCh38]
Chr2:216211660 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_004044.7(ATIC):c.-218A>G single nucleotide variant AICA-ribosiduria [RCV001553927]|not provided [RCV004709103] Chr2:215311925 [GRCh38]
Chr2:216176648 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.-59T>G single nucleotide variant AICA-ribosiduria [RCV001553928]|not provided [RCV004709104] Chr2:215312084 [GRCh38]
Chr2:216176807 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.380-19A>C single nucleotide variant AICA-ribosiduria [RCV001553930]|not provided [RCV002072069] Chr2:215325968 [GRCh38]
Chr2:216190691 [GRCh37]
Chr2:2q35		 benign
NC_000002.11:g.(?_215593400)_(216212339_?)dup duplication Familial cancer of breast [RCV001033536] Chr2:215593400..216212339 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1098+60C>G single nucleotide variant AICA-ribosiduria [RCV001553931]|not provided [RCV004709106] Chr2:215336184 [GRCh38]
Chr2:216200907 [GRCh37]
Chr2:2q35		 benign
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
NM_004044.7:c.406G>A variation AICAR transformylase/IMP cyclohydrolase deficiency [RCV001257316] Chr2:2q35 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
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 2q35(chr2:216066402-216205612)x1 copy number loss not provided [RCV001259181] Chr2:216066402..216205612 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1503+48A>T single nucleotide variant AICA-ribosiduria [RCV001553933]|not provided [RCV004709107] Chr2:215346989 [GRCh38]
Chr2:216211712 [GRCh37]
Chr2:2q35		 benign
NM_004044.7:c.1654A>T variation AICAR transformylase/IMP cyclohydrolase deficiency [RCV001257317] Chr2:2q35 pathogenic
NC_000002.12:g.215349854_215435010del deletion Megacolon [RCV001290046] Chr2:215349854..215435010 [GRCh38]
Chr2:216214577..216299733 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.688+1G>A single nucleotide variant AICAR transformylase/IMP cyclohydrolase deficiency [RCV001336108] Chr2:215326979 [GRCh38]
Chr2:216191702 [GRCh37]
Chr2:2q35		 pathogenic
NM_004044.7(ATIC):c.923-2A>G single nucleotide variant AICAR transformylase/IMP cyclohydrolase deficiency [RCV001336109] Chr2:215334917 [GRCh38]
Chr2:216199640 [GRCh37]
Chr2:2q35		 pathogenic
NM_004044.7(ATIC):c.1474G>T (p.Asp492Tyr) single nucleotide variant AICA-ribosiduria [RCV001332372] Chr2:215346912 [GRCh38]
Chr2:216211635 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.245del (p.Pro82fs) deletion AICAR transformylase/IMP cyclohydrolase deficiency [RCV001332373] Chr2:215319685 [GRCh38]
Chr2:216184408 [GRCh37]
Chr2:2q35		 pathogenic
NM_004044.7(ATIC):c.682A>T (p.Ile228Phe) single nucleotide variant not provided [RCV001356363] Chr2:215326972 [GRCh38]
Chr2:216191695 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252_7266dup (p.Gly2418_Asp2422dup) duplication not provided [RCV001969167] Chr2:215362064..215362065 [GRCh38]
Chr2:216226787..216226788 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7161T>C (p.Tyr2387=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702111]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702905]|not provided [RCV001521850] Chr2:215364969 [GRCh38]
Chr2:216229692 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1252C>T (p.Leu418Phe) single nucleotide variant not provided [RCV001950391] Chr2:215344803 [GRCh38]
Chr2:216209526 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.379+1G>A single nucleotide variant not provided [RCV001985363] Chr2:215325330 [GRCh38]
Chr2:216190053 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NM_004044.7(ATIC):c.1471A>G (p.Ile491Val) single nucleotide variant not provided [RCV001946105] Chr2:215346909 [GRCh38]
Chr2:216211632 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.869A>G (p.Tyr290Cys) single nucleotide variant not provided [RCV001919126] Chr2:215333404 [GRCh38]
Chr2:216198127 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1069A>G (p.Lys357Glu) single nucleotide variant not provided [RCV001992171] Chr2:215336095 [GRCh38]
Chr2:216200818 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7016C>G (p.Ser2339Cys) single nucleotide variant not provided [RCV002028419] Chr2:215367865 [GRCh38]
Chr2:216232588 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002490041]|not provided [RCV001874444] Chr2:215361587 [GRCh38]
Chr2:216226310 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr) single nucleotide variant Nephrotic syndrome [RCV001849884] Chr2:215361610 [GRCh38]
Chr2:216226333 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.7018+314T>C single nucleotide variant not provided [RCV001577044] Chr2:215367549 [GRCh38]
Chr2:216232272 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6854-228G>T single nucleotide variant not provided [RCV001667143] Chr2:215368255 [GRCh38]
Chr2:216232978 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7070G>A (p.Arg2357His) single nucleotide variant not provided [RCV002002961] Chr2:215365579 [GRCh38]
Chr2:216230302 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7019-181_7019-180insT insertion not provided [RCV001549553] Chr2:215365810..215365811 [GRCh38]
Chr2:216230533..216230534 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7018+7A>G single nucleotide variant not provided [RCV000955300] Chr2:215367856 [GRCh38]
Chr2:216232579 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7251+201C>T single nucleotide variant not provided [RCV001609787] Chr2:215364678 [GRCh38]
Chr2:216229401 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7249C>T (p.Arg2417Trp) single nucleotide variant not provided [RCV002004869] Chr2:215364881 [GRCh38]
Chr2:216229604 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6964C>G (p.Leu2322Val) single nucleotide variant not provided [RCV001369568] Chr2:215367917 [GRCh38]
Chr2:216232640 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6854-198G>A single nucleotide variant not provided [RCV001677054] Chr2:215368225 [GRCh38]
Chr2:216232948 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7144+147A>G single nucleotide variant not provided [RCV001709792] Chr2:215365358 [GRCh38]
Chr2:216230081 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1227+1537G>A single nucleotide variant not provided [RCV002165504] Chr2:215340444 [GRCh38]
Chr2:216205167 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del) microsatellite Glomerulopathy with fibronectin deposits 2 [RCV002507751]|not provided [RCV002005590] Chr2:215364962..215364964 [GRCh38]
Chr2:216229685..216229687 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7408G>C (p.Ala2470Pro) single nucleotide variant Chronic kidney disease [RCV001171352]|not provided [RCV002559642] Chr2:215361581 [GRCh38]
Chr2:216226304 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7251+78del deletion not provided [RCV001589339] Chr2:215364801 [GRCh38]
Chr2:216229524 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7018+287G>T single nucleotide variant not provided [RCV001689344] Chr2:215367576 [GRCh38]
Chr2:216232299 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-178_7019-177del deletion not provided [RCV001707312] Chr2:215365807..215365808 [GRCh38]
Chr2:216230530..216230531 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486356]|not provided [RCV001338706] Chr2:215362021 [GRCh38]
Chr2:216226744 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+50T>G single nucleotide variant not provided [RCV001598025] Chr2:215361919 [GRCh38]
Chr2:216226642 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7009G>A (p.Asp2337Asn) single nucleotide variant not provided [RCV002004446] Chr2:215367872 [GRCh38]
Chr2:216232595 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7268A>G (p.Asn2423Ser) single nucleotide variant Inborn genetic diseases [RCV003163883]|not provided [RCV001771574] Chr2:215362063 [GRCh38]
Chr2:216226786 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7144+12C>G single nucleotide variant not provided [RCV001718469] Chr2:215365493 [GRCh38]
Chr2:216230216 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-180_7019-179insT insertion not provided [RCV001564384] Chr2:215365809..215365810 [GRCh38]
Chr2:216230532..216230533 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6854-179C>T single nucleotide variant not provided [RCV001665147] Chr2:215368206 [GRCh38]
Chr2:216232929 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7144+195A>G single nucleotide variant not provided [RCV001665425] Chr2:215365310 [GRCh38]
Chr2:216230033 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.*130C>T single nucleotide variant not provided [RCV001586238] Chr2:215361425 [GRCh38]
Chr2:216226148 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7144+202del deletion not provided [RCV001560399] Chr2:215365303 [GRCh38]
Chr2:216230026 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.688+9C>T single nucleotide variant not provided [RCV002187110] Chr2:215326987 [GRCh38]
Chr2:216191710 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-274G>A single nucleotide variant not provided [RCV001677840] Chr2:215365904 [GRCh38]
Chr2:216230627 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7169G>C (p.Gly2390Ala) single nucleotide variant not provided [RCV001867250] Chr2:215364961 [GRCh38]
Chr2:216229684 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+107del deletion not provided [RCV001552577] Chr2:215361862 [GRCh38]
Chr2:216226585 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-177del deletion not provided [RCV001689415] Chr2:215365807 [GRCh38]
Chr2:216230530 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-150A>G single nucleotide variant not provided [RCV001589401] Chr2:215365780 [GRCh38]
Chr2:216230503 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-181A>T single nucleotide variant not provided [RCV001613848] Chr2:215365811 [GRCh38]
Chr2:216230534 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7366G>A (p.Val2456Ile) single nucleotide variant not provided [RCV002028231] Chr2:215361623 [GRCh38]
Chr2:216226346 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7018+30G>T single nucleotide variant not provided [RCV001614342] Chr2:215367833 [GRCh38]
Chr2:216232556 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6854-314G>A single nucleotide variant not provided [RCV001583035] Chr2:215368341 [GRCh38]
Chr2:216233064 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7368T>G (p.Val2456=) single nucleotide variant not provided [RCV001520988] Chr2:215361621 [GRCh38]
Chr2:216226344 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7034A>G (p.Asn2345Ser) single nucleotide variant not provided [RCV001918885] Chr2:215365615 [GRCh38]
Chr2:216230338 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7213G>A (p.Gly2405Ser) single nucleotide variant Inborn genetic diseases [RCV004036642]|not provided [RCV001351034] Chr2:215364917 [GRCh38]
Chr2:216229640 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7182C>T (p.His2394=) single nucleotide variant not provided [RCV000972642] Chr2:215364948 [GRCh38]
Chr2:216229671 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7004G>A (p.Arg2335Lys) single nucleotide variant not provided [RCV001880713] Chr2:215367877 [GRCh38]
Chr2:216232600 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7363-30A>G single nucleotide variant not provided [RCV001569171] Chr2:215361656 [GRCh38]
Chr2:216226379 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-180_7019-177del deletion not provided [RCV001558063] Chr2:215365807..215365810 [GRCh38]
Chr2:216230530..216230533 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7274G>A (p.Arg2425His) single nucleotide variant not provided [RCV000937490] Chr2:215362057 [GRCh38]
Chr2:216226780 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-303C>T single nucleotide variant not provided [RCV001556682] Chr2:215365933 [GRCh38]
Chr2:216230656 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7018+14T>C single nucleotide variant not provided [RCV002186340] Chr2:215367849 [GRCh38]
Chr2:216232572 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7145-142G>A single nucleotide variant not provided [RCV001708193] Chr2:215365127 [GRCh38]
Chr2:216229850 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6854-61_6854-59del microsatellite not provided [RCV001665294] Chr2:215368086..215368088 [GRCh38]
Chr2:216232809..216232811 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-180A>T single nucleotide variant not provided [RCV001639118] Chr2:215365810 [GRCh38]
Chr2:216230533 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-179_7019-177del deletion not provided [RCV001715985] Chr2:215365807..215365809 [GRCh38]
Chr2:216230530..216230532 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7144+197A>C single nucleotide variant not provided [RCV001557655] Chr2:215365308 [GRCh38]
Chr2:216230031 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7363-72dup duplication not provided [RCV001578135] Chr2:215361694..215361695 [GRCh38]
Chr2:216226417..216226418 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252-151C>T single nucleotide variant not provided [RCV001620082] Chr2:215362230 [GRCh38]
Chr2:216226953 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7018+223A>G single nucleotide variant not provided [RCV001658786] Chr2:215367640 [GRCh38]
Chr2:216232363 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6908T>C (p.Val2303Ala) single nucleotide variant not provided [RCV001754392] Chr2:215367973 [GRCh38]
Chr2:216232696 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001732195]|Glomerulopathy with fibronectin deposits 2 [RCV002488320]|not provided [RCV001513051] Chr2:215367958 [GRCh38]
Chr2:216232681 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7209T>C (p.Tyr2403=) single nucleotide variant not provided [RCV000914094] Chr2:215364921 [GRCh38]
Chr2:216229644 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7362+97_7362+98dup duplication not provided [RCV001567305] Chr2:215361861..215361862 [GRCh38]
Chr2:216226584..216226585 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7116C>T (p.Asn2372=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494089]|not provided [RCV002185451] Chr2:215365533 [GRCh38]
Chr2:216230256 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7362+62C>G single nucleotide variant not provided [RCV001583144] Chr2:215361907 [GRCh38]
Chr2:216226630 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7144+12C>T single nucleotide variant not provided [RCV002128355] Chr2:215365493 [GRCh38]
Chr2:216230216 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6921C>T (p.Ala2307=) single nucleotide variant not provided [RCV002116229] Chr2:215367960 [GRCh38]
Chr2:216232683 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6857A>G (p.Asn2286Ser) single nucleotide variant not provided [RCV001958275] Chr2:215368024 [GRCh38]
Chr2:216232747 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7363-44C>T single nucleotide variant not provided [RCV001552968] Chr2:215361670 [GRCh38]
Chr2:216226393 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479675]|Inborn genetic diseases [RCV002592563]|not provided [RCV002006267] Chr2:215365580 [GRCh38]
Chr2:216230303 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.532-12C>T single nucleotide variant not provided [RCV002125102] Chr2:215326810 [GRCh38]
Chr2:216191533 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1503+11dup duplication not provided [RCV002085974] Chr2:215346950..215346951 [GRCh38]
Chr2:216211673..216211674 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7295G>C (p.Ser2432Thr) single nucleotide variant FN1-related disorder [RCV003913778]|not provided [RCV002079687] Chr2:215362036 [GRCh38]
Chr2:216226759 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6915T>C (p.His2305=) single nucleotide variant not provided [RCV001485025] Chr2:215367966 [GRCh38]
Chr2:216232689 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7018+30G>A single nucleotide variant not provided [RCV001678858] Chr2:215367833 [GRCh38]
Chr2:216232556 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7363-19C>T single nucleotide variant not provided [RCV002105079] Chr2:215361645 [GRCh38]
Chr2:216226368 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.290+1371C>T single nucleotide variant not provided [RCV002165515] Chr2:215321102 [GRCh38]
Chr2:216185825 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7251+7C>G single nucleotide variant not provided [RCV002082109] Chr2:215364872 [GRCh38]
Chr2:216229595 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1411C>T (p.Pro471Ser) single nucleotide variant not provided [RCV002163417] Chr2:215346849 [GRCh38]
Chr2:215346849..215346850 [GRCh38]
Chr2:216211572 [GRCh37]
Chr2:216211572..216211573 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7363-20del deletion Glomerulopathy with fibronectin deposits 2 [RCV002486871]|not provided [RCV002103482] Chr2:215361646 [GRCh38]
Chr2:216226369 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7020A>G (p.Arg2340=) single nucleotide variant not provided [RCV002121734] Chr2:215365629 [GRCh38]
Chr2:216230352 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7131C>T (p.Phe2377=) single nucleotide variant not provided [RCV002121817] Chr2:215365518 [GRCh38]
Chr2:216230241 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.480C>T (p.Ser160=) single nucleotide variant not provided [RCV002141105] Chr2:215326087 [GRCh38]
Chr2:216190810 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7018+17T>C single nucleotide variant not provided [RCV002082214] Chr2:215367846 [GRCh38]
Chr2:216232569 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6887C>T (p.Ser2296Leu) single nucleotide variant not provided [RCV002157856] Chr2:215367994 [GRCh38]
Chr2:216232717 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.1443A>G (p.Gly481=) single nucleotide variant not provided [RCV002117956] Chr2:215346881 [GRCh38]
Chr2:216211604 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.418G>A (p.Ala140Thr) single nucleotide variant not specified [RCV004783705] Chr2:215326025 [GRCh38]
Chr2:216190748 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.389C>G (p.Thr130Ser) single nucleotide variant not specified [RCV004308730] Chr2:215325996 [GRCh38]
Chr2:216190719 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7144+1G>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002281673] Chr2:215365504 [GRCh38]
Chr2:216230227 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.7251+5G>T single nucleotide variant not provided [RCV002276277] Chr2:215364874 [GRCh38]
Chr2:216229597 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.642G>C (p.Gln214His) single nucleotide variant See cases [RCV004584565] Chr2:215326932 [GRCh38]
Chr2:216191655 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7257G>C (p.Trp2419Cys) single nucleotide variant not provided [RCV002305069] Chr2:215362074 [GRCh38]
Chr2:216226797 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6943A>T (p.Met2315Leu) single nucleotide variant not provided [RCV002294874] Chr2:215367938 [GRCh38]
Chr2:216232661 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7076G>T (p.Gly2359Val) single nucleotide variant not provided [RCV003013927] Chr2:215365573 [GRCh38]
Chr2:216230296 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1643T>C (p.Val548Ala) single nucleotide variant not provided [RCV002971270]|not specified [RCV004068249] Chr2:215349233 [GRCh38]
Chr2:216213956 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_212482.4(FN1):c.7193A>T (p.Gln2398Leu) single nucleotide variant Inborn genetic diseases [RCV002818363] Chr2:215364937 [GRCh38]
Chr2:216229660 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7183G>A (p.Val2395Ile) single nucleotide variant Inborn genetic diseases [RCV002689029]|not provided [RCV003778562] Chr2:215364947 [GRCh38]
Chr2:216229670 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7426C>T (p.Arg2476Ter) single nucleotide variant not provided [RCV002972236] Chr2:215361563 [GRCh38]
Chr2:216226286 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7285G>A (p.Gly2429Ser) single nucleotide variant Inborn genetic diseases [RCV002777856] Chr2:215362046 [GRCh38]
Chr2:216226769 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7401T>A (p.Asp2467Glu) single nucleotide variant not provided [RCV003075068] Chr2:215361588 [GRCh38]
Chr2:216226311 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7165G>C (p.Asp2389His) single nucleotide variant not provided [RCV003016591] Chr2:215364965 [GRCh38]
Chr2:216229688 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.165G>A (p.Thr55=) single nucleotide variant not provided [RCV002996384] Chr2:215318175 [GRCh38]
Chr2:216182898 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-5dup duplication not provided [RCV002593001] Chr2:215365634..215365635 [GRCh38]
Chr2:216230357..216230358 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.272T>C (p.Leu91Pro) single nucleotide variant not specified [RCV004110882] Chr2:215319713 [GRCh38]
Chr2:216184436 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6854-4A>G single nucleotide variant not provided [RCV002621659] Chr2:215368031 [GRCh38]
Chr2:216232754 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.112G>A (p.Ala38Thr) single nucleotide variant not specified [RCV004170489] Chr2:215312590 [GRCh38]
Chr2:216177313 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.236G>A (p.Arg79His) single nucleotide variant not specified [RCV004205928] Chr2:215319677 [GRCh38]
Chr2:216184400 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7212C>T (p.Leu2404=) single nucleotide variant not provided [RCV002976083] Chr2:215364918 [GRCh38]
Chr2:216229641 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7119A>G (p.Gly2373=) single nucleotide variant not provided [RCV002706520] Chr2:215365530 [GRCh38]
Chr2:216230253 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.12:g.215362057_215362082dup duplication not provided [RCV002932230] Chr2:215362053..215362054 [GRCh38]
Chr2:216226776..216226777 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1642G>A (p.Val548Ile) single nucleotide variant not specified [RCV004246670] Chr2:215349232 [GRCh38]
Chr2:216213955 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.871G>A (p.Asp291Asn) single nucleotide variant not specified [RCV004165834] Chr2:215333406 [GRCh38]
Chr2:216198129 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.932G>A (p.Arg311Lys) single nucleotide variant not specified [RCV004217483] Chr2:215334928 [GRCh38]
Chr2:216199651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7393C>G (p.Pro2465Ala) single nucleotide variant Inborn genetic diseases [RCV002803487] Chr2:215361596 [GRCh38]
Chr2:216226319 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7019-4A>G single nucleotide variant not provided [RCV002667325] Chr2:215365634 [GRCh38]
Chr2:216230357 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252-14C>G single nucleotide variant not provided [RCV002790750] Chr2:215362093 [GRCh38]
Chr2:216226816 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7251G>A (p.Arg2417=) single nucleotide variant not provided [RCV002595086] Chr2:215364879 [GRCh38]
Chr2:216229602 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1435A>G (p.Lys479Glu) single nucleotide variant not specified [RCV004109276] Chr2:215346873 [GRCh38]
Chr2:216211596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1606A>T (p.Ile536Phe) single nucleotide variant not provided [RCV002575913] Chr2:215349196 [GRCh38]
Chr2:216213919 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.688+3A>G single nucleotide variant not provided [RCV003085294]|not specified [RCV003111622] Chr2:215326981 [GRCh38]
Chr2:216191704 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1363A>C (p.Thr455Pro) single nucleotide variant not specified [RCV004168573] Chr2:215346801 [GRCh38]
Chr2:216211524 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6858C>T (p.Asn2286=) single nucleotide variant not provided [RCV002985583] Chr2:215368023 [GRCh38]
Chr2:216232746 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.923-2del deletion not provided [RCV003040657] Chr2:215334917 [GRCh38]
Chr2:216199640 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_004044.7(ATIC):c.1252C>G (p.Leu418Val) single nucleotide variant not specified [RCV004235531] Chr2:215344803 [GRCh38]
Chr2:216209526 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6888G>A (p.Ser2296=) single nucleotide variant not provided [RCV002806051] Chr2:215367993 [GRCh38]
Chr2:216232716 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7154C>T (p.Thr2385Met) single nucleotide variant Inborn genetic diseases [RCV002831756] Chr2:215364976 [GRCh38]
Chr2:216229699 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.563C>G (p.Ala188Gly) single nucleotide variant not specified [RCV004076345] Chr2:215326853 [GRCh38]
Chr2:216191576 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.723C>T (p.Cys241=) single nucleotide variant not provided [RCV002967093] Chr2:215332416 [GRCh38]
Chr2:216197139 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7335T>C (p.Ser2445=) single nucleotide variant not provided [RCV002720687] Chr2:215361996 [GRCh38]
Chr2:216226719 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1327G>A (p.Gly443Ser) single nucleotide variant not specified [RCV004091234] Chr2:215346765 [GRCh38]
Chr2:216211488 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7308T>C (p.Thr2436=) single nucleotide variant not provided [RCV002721707] Chr2:215362023 [GRCh38]
Chr2:216226746 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252-10A>T single nucleotide variant not provided [RCV002658429] Chr2:215362089 [GRCh38]
Chr2:216226812 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1131A>G (p.Glu377=) single nucleotide variant not provided [RCV002725428] Chr2:215338811 [GRCh38]
Chr2:216203534 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7071T>A (p.Arg2357=) single nucleotide variant not provided [RCV002585297] Chr2:215365578 [GRCh38]
Chr2:216230301 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.91C>G (p.Leu31Val) single nucleotide variant not provided [RCV002654324] Chr2:215312569 [GRCh38]
Chr2:216177292 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7299C>T (p.Pro2433=) single nucleotide variant not provided [RCV002725791] Chr2:215362032 [GRCh38]
Chr2:216226755 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1717G>A (p.Glu573Lys) single nucleotide variant not specified [RCV004256888] Chr2:215349593 [GRCh38]
Chr2:216214316 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.52G>C (p.Val18Leu) single nucleotide variant not specified [RCV004275616] Chr2:215312530 [GRCh38]
Chr2:216177253 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1366C>T (p.Arg456Cys) single nucleotide variant not specified [RCV004252402] Chr2:215346804 [GRCh38]
Chr2:216211527 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1528G>A (p.Ala510Thr) single nucleotide variant not provided [RCV003387549]|not specified [RCV004253737] Chr2:215349118 [GRCh38]
Chr2:216213841 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-35(chr2:215074747-216700700)x1 copy number loss See cases [RCV003229519] Chr2:215074747..216700700 [GRCh37]
Chr2:2q34-35		 likely benign
NM_004044.7(ATIC):c.779C>T (p.Pro260Leu) single nucleotide variant not specified [RCV004255123] Chr2:215332472 [GRCh38]
Chr2:216197195 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.544A>T (p.Thr182Ser) single nucleotide variant not specified [RCV004327373] Chr2:215326834 [GRCh38]
Chr2:216191557 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs) indel AICA-ribosiduria [RCV003141645] Chr2:215312609 [GRCh38]
Chr2:216177332 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.720G>C (p.Leu240Phe) single nucleotide variant not specified [RCV004265777] Chr2:215332413 [GRCh38]
Chr2:216197136 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_004044.7(ATIC):c.260A>G (p.Asp87Gly) single nucleotide variant not provided [RCV003387564] Chr2:215319701 [GRCh38]
Chr2:216184424 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1004G>C (p.Arg335Thr) single nucleotide variant not specified [RCV004361404] Chr2:215335000 [GRCh38]
Chr2:216199723 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1651G>A (p.Ala551Thr) single nucleotide variant not specified [RCV004348275] Chr2:215349241 [GRCh38]
Chr2:216213964 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1679C>T (p.Ala560Val) single nucleotide variant not specified [RCV004341544] Chr2:215349555 [GRCh38]
Chr2:216214278 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.19+94G>A single nucleotide variant not provided [RCV003429529] Chr2:215312255 [GRCh38]
Chr2:216176978 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7077A>T (p.Gly2359=) single nucleotide variant not provided [RCV003545595] Chr2:215365572 [GRCh38]
Chr2:216230295 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7266C>A (p.Asp2422Glu) single nucleotide variant not provided [RCV003876282] Chr2:215362065 [GRCh38]
Chr2:216226788 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.814+9C>T single nucleotide variant not provided [RCV003828925] Chr2:215332516 [GRCh38]
Chr2:216197239 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7018A>G (p.Arg2340Gly) single nucleotide variant not provided [RCV003878164] Chr2:215367863 [GRCh38]
Chr2:216232586 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+8C>G single nucleotide variant not provided [RCV003660144] Chr2:215361961 [GRCh38]
Chr2:216226684 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7041G>C (p.Val2347=) single nucleotide variant not provided [RCV003572668] Chr2:215365608 [GRCh38]
Chr2:216230331 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.461T>C (p.Val154Ala) single nucleotide variant not provided [RCV003549825] Chr2:215326068 [GRCh38]
Chr2:216190791 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.590A>G (p.Tyr197Cys) single nucleotide variant not provided [RCV003548841] Chr2:215326880 [GRCh38]
Chr2:216191603 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7145-19G>C single nucleotide variant not provided [RCV003697973] Chr2:215365004 [GRCh38]
Chr2:216229727 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.379+15C>G single nucleotide variant not provided [RCV003832375] Chr2:215325344 [GRCh38]
Chr2:216190067 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1139C>T (p.Thr380Ile) single nucleotide variant not provided [RCV003548346] Chr2:215338819 [GRCh38]
Chr2:216203542 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+2dup duplication not provided [RCV003664806] Chr2:215361966..215361967 [GRCh38]
Chr2:216226689..216226690 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.533C>T (p.Ala178Val) single nucleotide variant not provided [RCV003836300] Chr2:215326823 [GRCh38]
Chr2:216191546 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7155G>A (p.Thr2385=) single nucleotide variant not provided [RCV003725715] Chr2:215364975 [GRCh38]
Chr2:216229698 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-7C>T single nucleotide variant not provided [RCV003725960] Chr2:215365637 [GRCh38]
Chr2:216230360 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1715T>C (p.Ile572Thr) single nucleotide variant ATIC-related disorder [RCV003901189]|not provided [RCV003559870] Chr2:215349591 [GRCh38]
Chr2:216214314 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6863G>C (p.Gly2288Ala) single nucleotide variant not provided [RCV003668277] Chr2:215368018 [GRCh38]
Chr2:216232741 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.545C>T (p.Thr182Met) single nucleotide variant not provided [RCV003559205] Chr2:215326835 [GRCh38]
Chr2:216191558 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7355C>T (p.Thr2452Ile) single nucleotide variant not provided [RCV003549327] Chr2:215361976 [GRCh38]
Chr2:216226699 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1504-7C>T single nucleotide variant not provided [RCV003717056] Chr2:215349087 [GRCh38]
Chr2:216213810 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7145-14G>C single nucleotide variant not provided [RCV003559596] Chr2:215364999 [GRCh38]
Chr2:216229722 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6982G>A (p.Gly2328Ser) single nucleotide variant not provided [RCV003843979] Chr2:215367899 [GRCh38]
Chr2:216232622 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7168G>A (p.Gly2390Arg) single nucleotide variant not provided [RCV003730811] Chr2:215364962 [GRCh38]
Chr2:216229685 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1634G>A (p.Arg545Gln) single nucleotide variant not provided [RCV003674719] Chr2:215349224 [GRCh38]
Chr2:216213947 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7253G>A (p.Gly2418Asp) single nucleotide variant not provided [RCV003818400] Chr2:215362078 [GRCh38]
Chr2:216226801 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+20A>G single nucleotide variant not provided [RCV003675895] Chr2:215361949 [GRCh38]
Chr2:216226672 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.420T>C (p.Ala140=) single nucleotide variant not provided [RCV003563610] Chr2:215326027 [GRCh38]
Chr2:216190750 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7346A>G (p.His2449Arg) single nucleotide variant not provided [RCV003722124] Chr2:215361985 [GRCh38]
Chr2:216226708 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7427G>A (p.Arg2476Gln) single nucleotide variant Inborn genetic diseases [RCV004374273]|not provided [RCV003737478] Chr2:215361562 [GRCh38]
Chr2:216226285 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6878C>T (p.Thr2293Met) single nucleotide variant not provided [RCV003550991] Chr2:215368003 [GRCh38]
Chr2:216232726 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7134G>A (p.Lys2378=) single nucleotide variant not provided [RCV003866678] Chr2:215365515 [GRCh38]
Chr2:216230238 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7297C>T (p.Pro2433Ser) single nucleotide variant not provided [RCV003685866] Chr2:215362034 [GRCh38]
Chr2:216226757 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7038T>G (p.Gly2346=) single nucleotide variant not provided [RCV003552370] Chr2:215365611 [GRCh38]
Chr2:216230334 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252-8TC[2] microsatellite not provided [RCV003554404] Chr2:215362082..215362083 [GRCh38]
Chr2:216226805..216226806 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6951A>G (p.Glu2317=) single nucleotide variant not provided [RCV003562159] Chr2:215367930 [GRCh38]
Chr2:216232653 [GRCh37]
Chr2:2q35		 benign
NM_004044.7(ATIC):c.366G>A (p.Glu122=) single nucleotide variant not provided [RCV003550517] Chr2:215325316 [GRCh38]
Chr2:216190039 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7362+4A>C single nucleotide variant not provided [RCV003564461] Chr2:215361965 [GRCh38]
Chr2:216226688 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1592T>A (p.Leu531Gln) single nucleotide variant not specified [RCV004425431] Chr2:215349182 [GRCh38]
Chr2:216213905 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.212C>T (p.Ala71Val) single nucleotide variant not specified [RCV004425433] Chr2:215318222 [GRCh38]
Chr2:216182945 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.931A>G (p.Arg311Gly) single nucleotide variant not specified [RCV004425436] Chr2:215334927 [GRCh38]
Chr2:216199650 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1702G>A (p.Asp568Asn) single nucleotide variant not specified [RCV004425432] Chr2:215349578 [GRCh38]
Chr2:216214301 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.102C>T (p.Ser34=) single nucleotide variant ATIC-related disorder [RCV003976979] Chr2:215312580 [GRCh38]
Chr2:216177303 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1542A>G (p.Glu514=) single nucleotide variant ATIC-related disorder [RCV003963984] Chr2:215349132 [GRCh38]
Chr2:216213855 [GRCh37]
Chr2:2q35		 likely benign
NM_004044.7(ATIC):c.1057A>G (p.Ile353Val) single nucleotide variant not specified [RCV004425430] Chr2:215336083 [GRCh38]
Chr2:216200806 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_215632196)_(216212339_?)dup duplication Familial cancer of breast [RCV004582465] Chr2:215632196..216212339 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6995G>C (p.Gly2332Ala) single nucleotide variant Inborn genetic diseases [RCV004625989] Chr2:215367886 [GRCh38]
Chr2:216232609 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1612T>C (p.Ser538Pro) single nucleotide variant not specified [RCV004679217] Chr2:215349202 [GRCh38]
Chr2:216213925 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7229G>A (p.Cys2410Tyr) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV004595330] Chr2:215364901 [GRCh38]
Chr2:216229624 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.1181T>C (p.Val394Ala) single nucleotide variant not specified [RCV004670617] Chr2:215338861 [GRCh38]
Chr2:216203584 [GRCh37]
Chr2:2q35		 uncertain significance
NM_004044.7(ATIC):c.164C>T (p.Thr55Met) single nucleotide variant not specified [RCV004679214] Chr2:215318174 [GRCh38]
Chr2:216182897 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7259G>A (p.Arg2420His) single nucleotide variant FN1-related disorder [RCV004745825] Chr2:215362072 [GRCh38]
Chr2:216226795 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7095G>A (p.Met2365Ile) single nucleotide variant not provided [RCV004794872] Chr2:215365554 [GRCh38]
Chr2:216230277 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2571
Count of miRNA genes:1017
Interacting mature miRNAs:1228
Transcripts:ENST00000236959, ENST00000413174, ENST00000426233, ENST00000427397, ENST00000435675, ENST00000442048, ENST00000443953, ENST00000444305, ENST00000446622, ENST00000459796, ENST00000467388, ENST00000478734, ENST00000479093, ENST00000488712, ENST00000540518
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
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human

Markers in Region
SGC31824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,214,352 - 216,214,452UniSTSGRCh37
Build 362215,922,597 - 215,922,697RGDNCBI36
Celera2209,983,981 - 209,984,081RGD
Cytogenetic Map2q34-q35UniSTS
Cytogenetic Map2q35UniSTS
HuRef2208,071,378 - 208,071,478UniSTS
GeneMap99-GB4 RH Map2668.13UniSTS
Whitehead-RH Map2991.0UniSTS
NCBI RH Map21587.8UniSTS
RH11837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,214,258 - 216,214,404UniSTSGRCh37
Build 362215,922,503 - 215,922,649RGDNCBI36
Celera2209,983,887 - 209,984,033RGD
Cytogenetic Map2q34-q35UniSTS
Cytogenetic Map2q35UniSTS
HuRef2208,071,284 - 208,071,430UniSTS
GeneMap99-GB4 RH Map2674.97UniSTS
WI-10220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,213,033 - 216,213,260UniSTSGRCh37
Build 362215,921,278 - 215,921,505RGDNCBI36
Celera2209,982,662 - 209,982,889RGD
Cytogenetic Map2q34-q35UniSTS
Cytogenetic Map2q35UniSTS
HuRef2208,070,059 - 208,070,286UniSTS
GeneMap99-GB4 RH Map2660.72UniSTS
Whitehead-RH Map2990.5UniSTS
NCBI RH Map21681.3UniSTS


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 NG_013002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007075418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007075419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA494525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB062403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008879 (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
  D82348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D89976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA043224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA074758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000236959   ⟹   ENSP00000236959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,312,059 - 215,349,764 (+)Ensembl
Ensembl Acc Id: ENST00000413174   ⟹   ENSP00000402393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,312,498 - 215,326,978 (+)Ensembl
Ensembl Acc Id: ENST00000426233   ⟹   ENSP00000401936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,336,022 - 215,349,298 (+)Ensembl
Ensembl Acc Id: ENST00000427397   ⟹   ENSP00000394317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,312,130 - 215,335,004 (+)Ensembl
Ensembl Acc Id: ENST00000435675   ⟹   ENSP00000415935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,312,091 - 215,349,763 (+)Ensembl
Ensembl Acc Id: ENST00000442048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,348,684 - 215,349,773 (+)Ensembl
Ensembl Acc Id: ENST00000443953   ⟹   ENSP00000406792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,312,072 - 215,349,763 (+)Ensembl
Ensembl Acc Id: ENST00000444305   ⟹   ENSP00000388675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,311,956 - 215,326,056 (+)Ensembl
Ensembl Acc Id: ENST00000446622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,334,917 - 215,347,652 (+)Ensembl
Ensembl Acc Id: ENST00000459796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,338,870 - 215,345,587 (+)Ensembl
Ensembl Acc Id: ENST00000467388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,338,769 - 215,347,240 (+)Ensembl
Ensembl Acc Id: ENST00000478734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,348,985 - 215,349,756 (+)Ensembl
Ensembl Acc Id: ENST00000479093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,338,766 - 215,349,733 (+)Ensembl
Ensembl Acc Id: ENST00000488712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,311,992 - 215,326,139 (+)Ensembl
RefSeq Acc Id: NM_004044   ⟹   NP_004035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,059 - 215,349,764 (+)NCBI
GRCh372216,176,679 - 216,214,496 (+)ENTREZGENE
Build 362215,885,081 - 215,922,724 (+)NCBI Archive
HuRef2208,033,447 - 208,071,522 (+)ENTREZGENE
CHM1_12216,182,580 - 216,220,395 (+)NCBI
T2T-CHM13v2.02215,797,091 - 215,834,793 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004187   ⟹   XP_016859676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,059 - 215,360,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047444489   ⟹   XP_047300445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,059 - 215,368,592 (+)NCBI
RefSeq Acc Id: XM_047444490   ⟹   XP_047300446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,059 - 215,360,904 (+)NCBI
RefSeq Acc Id: XM_047444491   ⟹   XP_047300447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,297 - 215,368,592 (+)NCBI
RefSeq Acc Id: XM_054342255   ⟹   XP_054198230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
RefSeq Acc Id: XM_054342256   ⟹   XP_054198231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
RefSeq Acc Id: XM_054342257   ⟹   XP_054198232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
RefSeq Acc Id: XM_054342258   ⟹   XP_054198233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,329 - 215,854,273 (+)NCBI
RefSeq Acc Id: XR_007075418
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,059 - 215,368,592 (+)NCBI
RefSeq Acc Id: XR_007075419
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,059 - 215,368,592 (+)NCBI
RefSeq Acc Id: XR_008486373
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
RefSeq Acc Id: XR_008486374
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
RefSeq Acc Id: XR_008486375
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
RefSeq Acc Id: XR_008486376
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02215,797,091 - 215,854,273 (+)NCBI
Protein Sequences
Protein RefSeqs NP_004035 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859676 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300445 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300446 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300447 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198233 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA97405 (Get FASTA)   NCBI Sequence Viewer  
  AAH08879 (Get FASTA)   NCBI Sequence Viewer  
  AAY24062 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13708 (Get FASTA)   NCBI Sequence Viewer  
  BAA11559 (Get FASTA)   NCBI Sequence Viewer  
  BAA21762 (Get FASTA)   NCBI Sequence Viewer  
  BAB93490 (Get FASTA)   NCBI Sequence Viewer  
  BAF82756 (Get FASTA)   NCBI Sequence Viewer  
  BAG35895 (Get FASTA)   NCBI Sequence Viewer  
  BAG60418 (Get FASTA)   NCBI Sequence Viewer  
  EAW70523 (Get FASTA)   NCBI Sequence Viewer  
  EAW70524 (Get FASTA)   NCBI Sequence Viewer  
  EAW70525 (Get FASTA)   NCBI Sequence Viewer  
  EAW70526 (Get FASTA)   NCBI Sequence Viewer  
  EAW70527 (Get FASTA)   NCBI Sequence Viewer  
  EAW70528 (Get FASTA)   NCBI Sequence Viewer  
  EAW70529 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000236959
  ENSP00000236959.9
  ENSP00000388675.1
  ENSP00000394317.1
  ENSP00000401936.1
  ENSP00000402393.1
  ENSP00000406792.1
  ENSP00000415935.1
GenBank Protein P31939 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004035   ⟸   NM_004044
- UniProtKB: Q53S28 (UniProtKB/Swiss-Prot),   Q13856 (UniProtKB/Swiss-Prot),   E9PBU3 (UniProtKB/Swiss-Prot),   A8K202 (UniProtKB/Swiss-Prot),   P31939 (UniProtKB/Swiss-Prot),   V9HWH7 (UniProtKB/TrEMBL),   B2R7P8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859676   ⟸   XM_017004187
- Peptide Label: isoform X3
- UniProtKB: B2R7P8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000401936   ⟸   ENST00000426233
Ensembl Acc Id: ENSP00000402393   ⟸   ENST00000413174
Ensembl Acc Id: ENSP00000394317   ⟸   ENST00000427397
Ensembl Acc Id: ENSP00000406792   ⟸   ENST00000443953
Ensembl Acc Id: ENSP00000388675   ⟸   ENST00000444305
Ensembl Acc Id: ENSP00000236959   ⟸   ENST00000236959
Ensembl Acc Id: ENSP00000415935   ⟸   ENST00000435675
RefSeq Acc Id: XP_047300445   ⟸   XM_047444489
- Peptide Label: isoform X1
- UniProtKB: B2R7P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047300446   ⟸   XM_047444490
- Peptide Label: isoform X2
- UniProtKB: B2R7P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047300447   ⟸   XM_047444491
- Peptide Label: isoform X4
- UniProtKB: B4DP06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198231   ⟸   XM_054342256
- Peptide Label: isoform X2
- UniProtKB: B2R7P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198230   ⟸   XM_054342255
- Peptide Label: isoform X1
- UniProtKB: B2R7P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198232   ⟸   XM_054342257
- Peptide Label: isoform X3
- UniProtKB: B2R7P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198233   ⟸   XM_054342258
- Peptide Label: isoform X4
- UniProtKB: B4DP06 (UniProtKB/TrEMBL)
Protein Domains
MGS-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31939-F1-model_v2 AlphaFold P31939 1-592 view protein structure

Promoters
RGD ID:6862734
Promoter ID:EPDNEW_H4532
Type:multiple initiation site
Name:ATIC_2
Description:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMPcyclohydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,311,856 - 215,311,916EPDNEW
RGD ID:6862736
Promoter ID:EPDNEW_H4533
Type:initiation region
Name:ATIC_1
Description:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMPcyclohydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,312,081 - 215,312,141EPDNEW
RGD ID:6796831
Promoter ID:HG_KWN:37075
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:OTTHUMT00000256610,   OTTHUMT00000337249,   OTTHUMT00000337251,   OTTHUMT00000337253,   OTTHUMT00000337254,   OTTHUMT00000337255,   OTTHUMT00000337256
Position:
Human AssemblyChrPosition (strand)Source
Build 362215,884,696 - 215,885,196 (+)MPROMDB
RGD ID:6851982
Promoter ID:EP73797
Type:initiation region
Name:HS_ATIC
Description:5-aminoimidazole-4-carboxamide ribonucleotideformyltransferase/IMP cyclohydrolase.
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 362215,885,053 - 215,885,113EPD
RGD ID:6796830
Promoter ID:HG_KWN:37079
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000337250,   OTTHUMT00000337262
Position:
Human AssemblyChrPosition (strand)Source
Build 362215,920,631 - 215,921,131 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:794 AgrOrtholog
COSMIC ATIC COSMIC
Ensembl Genes ENSG00000138363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000236959 ENTREZGENE
  ENST00000236959.14 UniProtKB/Swiss-Prot
  ENST00000413174.1 UniProtKB/TrEMBL
  ENST00000426233.1 UniProtKB/TrEMBL
  ENST00000427397.5 UniProtKB/TrEMBL
  ENST00000435675.5 UniProtKB/Swiss-Prot
  ENST00000443953.5 UniProtKB/TrEMBL
  ENST00000444305.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.140.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138363 GTEx
HGNC ID HGNC:794 ENTREZGENE
Human Proteome Map ATIC Human Proteome Map
InterPro AICAR_Tfase_dup_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AICAR_Tfase_insert_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytidine_deaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PurH-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:471 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 471 ENTREZGENE
OMIM 601731 OMIM
PANTHER BIFUNCTIONAL PURINE BIOSYNTHESIS PROTEIN ATIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11692 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AICARFT_IMPCHas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ATIC RGD, PharmGKB
PIRSF AICARFT_IMPCHas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AICARFT_IMPCHas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53927 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K202 ENTREZGENE
  B2R7P8 ENTREZGENE, UniProtKB/TrEMBL
  B4DP06 ENTREZGENE, UniProtKB/TrEMBL
  C9JLK0_HUMAN UniProtKB/TrEMBL
  E9PBU3 ENTREZGENE
  F2Z3E8_HUMAN UniProtKB/TrEMBL
  F8WEF0_HUMAN UniProtKB/TrEMBL
  H7C1S2_HUMAN UniProtKB/TrEMBL
  P31939 ENTREZGENE, UniProtKB/Swiss-Prot
  Q13856 ENTREZGENE
  Q53S28 ENTREZGENE
  V9HWH7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K202 UniProtKB/Swiss-Prot
  E9PBU3 UniProtKB/Swiss-Prot
  Q13856 UniProtKB/Swiss-Prot
  Q53S28 UniProtKB/Swiss-Prot