FNIP2 (folliculin interacting protein 2) - Rat Genome Database

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Gene: FNIP2 (folliculin interacting protein 2) Homo sapiens
Analyze
Symbol: FNIP2
Name: folliculin interacting protein 2
RGD ID: 2292121
HGNC Page HGNC:29280
Description: Enables ATPase inhibitor activity and protein-folding chaperone binding activity. Involved in several processes, including positive regulation of TORC1 signaling; protein phosphorylation; and regulation of primary metabolic process. Located in centriolar satellite and cytosol. Part of FNIP-folliculin RagC/D GAP.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FNIP1-like protein; FNIPL; folliculin-interacting protein 2; KIAA1450; MAPO1; O6-methylguanine-induced apoptosis 1 protein
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
GRCh384158,769,026 - 158,908,050 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4158,769,026 - 158,908,050 (+)EnsemblGRCh38hg38GRCh38
GRCh374159,690,178 - 159,829,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364159,909,632 - 160,047,408 (+)NCBINCBI36Build 36hg18NCBI36
Celera4157,031,205 - 157,168,989 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4155,440,385 - 155,578,054 (+)NCBIHuRef
CHM1_14159,666,653 - 159,804,420 (+)NCBICHM1_1
T2T-CHM13v2.04162,119,774 - 162,258,820 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
GSK-J4  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methyl methanesulfonate  (EXP)
paracetamol  (ISO)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Amino Acid Sensing by mTORC1: Intracellular Transporters Mark the Spot. Goberdhan DC, etal., Cell Metab. 2016 Apr 12;23(4):580-9. doi: 10.1016/j.cmet.2016.03.013.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10819331   PMID:12477932   PMID:14702039   PMID:18029348   PMID:18403135   PMID:18663353   PMID:19137017   PMID:19914239   PMID:20379614   PMID:21209915   PMID:21873635   PMID:23201403  
PMID:25126726   PMID:25561175   PMID:27353360   PMID:28039480   PMID:28656962   PMID:29507755   PMID:33137092   PMID:33459596   PMID:33637726   PMID:33961781   PMID:34432599   PMID:35256949  
PMID:35831314   PMID:36103527   PMID:36316722   PMID:37772772  


Genomics

Comparative Map Data
FNIP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384158,769,026 - 158,908,050 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4158,769,026 - 158,908,050 (+)EnsemblGRCh38hg38GRCh38
GRCh374159,690,178 - 159,829,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364159,909,632 - 160,047,408 (+)NCBINCBI36Build 36hg18NCBI36
Celera4157,031,205 - 157,168,989 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4155,440,385 - 155,578,054 (+)NCBIHuRef
CHM1_14159,666,653 - 159,804,420 (+)NCBICHM1_1
T2T-CHM13v2.04162,119,774 - 162,258,820 (+)NCBIT2T-CHM13v2.0
Fnip2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39379,363,556 - 79,475,458 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl379,363,281 - 79,475,103 (-)EnsemblGRCm39 Ensembl
GRCm38379,455,971 - 79,568,151 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl379,455,974 - 79,567,796 (-)EnsemblGRCm38mm10GRCm38
MGSCv37379,259,893 - 79,371,601 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera379,492,804 - 79,605,886 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map334.91NCBI
Fnip2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82166,894,726 - 167,006,490 (-)NCBIGRCr8
mRatBN7.22164,596,557 - 164,708,147 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2164,598,906 - 164,707,901 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2171,817,230 - 171,926,253 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02169,833,258 - 169,942,292 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02164,442,103 - 164,551,138 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02178,223,561 - 178,334,925 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2178,225,915 - 178,334,900 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02197,561,442 - 197,670,325 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42170,865,329 - 170,975,214 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2158,695,553 - 158,804,496 (-)NCBICelera
Cytogenetic Map2q33NCBI
Fnip2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547112,378,827 - 12,445,207 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547112,329,686 - 12,444,782 (+)NCBIChiLan1.0ChiLan1.0
FNIP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23156,633,982 - 156,771,435 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14156,989,338 - 157,126,683 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04151,086,854 - 151,224,192 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14162,896,811 - 163,033,411 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4162,896,805 - 163,032,167 (+)Ensemblpanpan1.1panPan2
FNIP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11555,871,782 - 55,962,676 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1555,830,806 - 55,959,052 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1556,192,112 - 56,324,467 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01556,573,299 - 56,706,386 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1556,573,255 - 56,702,734 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11555,853,569 - 55,944,270 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01555,911,594 - 56,043,987 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01556,225,177 - 56,357,604 (+)NCBIUU_Cfam_GSD_1.0
Fnip2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530134,211,781 - 34,325,295 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365765,221,613 - 5,335,191 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365765,221,619 - 5,335,133 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FNIP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl847,702,961 - 47,838,535 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1847,702,877 - 47,838,541 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2850,090,222 - 50,158,202 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FNIP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17105,344,950 - 105,445,313 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7105,345,920 - 105,445,452 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603785,015,735 - 85,154,798 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fnip2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248483,756,247 - 3,827,288 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248483,739,677 - 3,826,931 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FNIP2
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3 copy number gain See cases [RCV000051790] Chr4:156252927..160451424 [GRCh38]
Chr4:157174079..161372576 [GRCh37]
Chr4:157393529..161592026 [NCBI36]
Chr4:4q32.1		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3 copy number gain See cases [RCV000136603] Chr4:158387928..166845726 [GRCh38]
Chr4:159309080..167766877 [GRCh37]
Chr4:159528530..168003452 [NCBI36]
Chr4:4q32.1-32.3		 pathogenic|uncertain significance
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.1(chr4:158598730-160080941)x3 copy number gain See cases [RCV000138528] Chr4:158598730..160080941 [GRCh38]
Chr4:159519882..161002093 [GRCh37]
Chr4:159739332..161221543 [NCBI36]
Chr4:4q32.1		 likely benign|uncertain significance
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33		 pathogenic
GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3 copy number gain See cases [RCV000143621] Chr4:156499748..163386407 [GRCh38]
Chr4:157420900..164307559 [GRCh37]
Chr4:157640350..164527009 [NCBI36]
Chr4:4q32.1-32.2		 likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:159682702-160143216)x1 copy number loss See cases [RCV000447566] Chr4:159682702..160143216 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:159758794-160264241)x1 copy number loss See cases [RCV000448649] Chr4:159758794..160264241 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_020840.3(FNIP2):c.65C>T (p.Ala22Val) single nucleotide variant not specified [RCV004300538] Chr4:158769277 [GRCh38]
Chr4:159690429 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.941G>A (p.Ser314Asn) single nucleotide variant not specified [RCV004322908] Chr4:158859140 [GRCh38]
Chr4:159780292 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:159690198-159690641)x1 copy number loss not provided [RCV000744079] Chr4:159690198..159690641 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:159690198-159732671)x1 copy number loss not provided [RCV000744080] Chr4:159690198..159732671 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:159690198-159753575)x1 copy number loss not provided [RCV000744081] Chr4:159690198..159753575 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:159690379-159690695)x0 copy number loss not provided [RCV000744082] Chr4:159690379..159690695 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:159690451-159690589)x4 copy number gain not provided [RCV000744083] Chr4:159690451..159690589 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:159799976-159804265)x1 copy number loss not provided [RCV000744084] Chr4:159799976..159804265 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_020840.3(FNIP2):c.1615G>C (p.Gly539Arg) single nucleotide variant not provided [RCV000954912] Chr4:158868251 [GRCh38]
Chr4:159789403 [GRCh37]
Chr4:4q32.1		 benign
NM_020840.3(FNIP2):c.1476C>T (p.Tyr492=) single nucleotide variant not provided [RCV000879795] Chr4:158868112 [GRCh38]
Chr4:159789264 [GRCh37]
Chr4:4q32.1		 benign
NM_020840.3(FNIP2):c.1893A>G (p.Ala631=) single nucleotide variant not provided [RCV000887983] Chr4:158868529 [GRCh38]
Chr4:159789681 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.2222G>A (p.Arg741Gln) single nucleotide variant not provided [RCV000954424] Chr4:158868858 [GRCh38]
Chr4:159790010 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.1891G>A (p.Ala631Thr) single nucleotide variant not specified [RCV004284503] Chr4:158868527 [GRCh38]
Chr4:159789679 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q32.1-32.2(chr4:159640893-161810965)x3 copy number gain not provided [RCV000848527] Chr4:159640893..161810965 [GRCh37]
Chr4:4q32.1-32.2		 uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
NM_020840.3(FNIP2):c.3055A>G (p.Met1019Val) single nucleotide variant not specified [RCV004292652] Chr4:158891551 [GRCh38]
Chr4:159812703 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1625G>A (p.Gly542Asp) single nucleotide variant not specified [RCV004303114] Chr4:158868261 [GRCh38]
Chr4:159789413 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1 copy number loss not provided [RCV000845798] Chr4:158177478..163328854 [GRCh37]
Chr4:4q32.1-32.2		 uncertain significance
NM_020840.3(FNIP2):c.785C>G (p.Ser262Cys) single nucleotide variant not specified [RCV004293822] Chr4:158851378 [GRCh38]
Chr4:159772530 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2201G>A (p.Arg734His) single nucleotide variant not specified [RCV004286485] Chr4:158868837 [GRCh38]
Chr4:159789989 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1319C>T (p.Ala440Val) single nucleotide variant not specified [RCV004292064] Chr4:158861630 [GRCh38]
Chr4:159782782 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2413A>G (p.Met805Val) single nucleotide variant not specified [RCV004301271] Chr4:158869049 [GRCh38]
Chr4:159790201 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.2089C>T (p.Arg697Trp) single nucleotide variant not specified [RCV004292726] Chr4:158868725 [GRCh38]
Chr4:159789877 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1		 pathogenic
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3 copy number gain not provided [RCV002473486] Chr4:158682606..159762612 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1037G>A (p.Arg346Lys) single nucleotide variant not specified [RCV004140410] Chr4:158859236 [GRCh38]
Chr4:159780388 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.994T>G (p.Phe332Val) single nucleotide variant not specified [RCV004156349] Chr4:158859193 [GRCh38]
Chr4:159780345 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3010T>C (p.Trp1004Arg) single nucleotide variant not specified [RCV004200619] Chr4:158891506 [GRCh38]
Chr4:159812658 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.995T>A (p.Phe332Tyr) single nucleotide variant not specified [RCV004156350] Chr4:158859194 [GRCh38]
Chr4:159780346 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1168T>C (p.Tyr390His) single nucleotide variant not specified [RCV004150542] Chr4:158861361 [GRCh38]
Chr4:159782513 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3184A>G (p.Met1062Val) single nucleotide variant not specified [RCV004192428] Chr4:158895783 [GRCh38]
Chr4:159816935 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2449G>A (p.Ala817Thr) single nucleotide variant not specified [RCV004172250] Chr4:158869085 [GRCh38]
Chr4:159790237 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2540G>A (p.Gly847Glu) single nucleotide variant not specified [RCV004159889] Chr4:158869176 [GRCh38]
Chr4:159790328 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2062G>A (p.Val688Met) single nucleotide variant not specified [RCV004199132] Chr4:158868698 [GRCh38]
Chr4:159789850 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1625G>C (p.Gly542Ala) single nucleotide variant not specified [RCV004240556] Chr4:158868261 [GRCh38]
Chr4:159789413 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.634T>C (p.Cys212Arg) single nucleotide variant not specified [RCV004132913] Chr4:158833607 [GRCh38]
Chr4:159754759 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1255A>G (p.Lys419Glu) single nucleotide variant not specified [RCV004088079] Chr4:158861448 [GRCh38]
Chr4:159782600 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2070G>A (p.Met690Ile) single nucleotide variant not specified [RCV004162967] Chr4:158868706 [GRCh38]
Chr4:159789858 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.112T>C (p.Ser38Pro) single nucleotide variant not specified [RCV004175335] Chr4:158825920 [GRCh38]
Chr4:159747072 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2324A>G (p.Asn775Ser) single nucleotide variant not specified [RCV004120105] Chr4:158868960 [GRCh38]
Chr4:159790112 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3047C>T (p.Thr1016Met) single nucleotide variant not specified [RCV004137552] Chr4:158891543 [GRCh38]
Chr4:159812695 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.2630A>G (p.Lys877Arg) single nucleotide variant not specified [RCV004163441] Chr4:158869266 [GRCh38]
Chr4:159790418 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.3112A>G (p.Ile1038Val) single nucleotide variant not specified [RCV004184827] Chr4:158891608 [GRCh38]
Chr4:159812760 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1754C>A (p.Pro585Gln) single nucleotide variant not specified [RCV004127683] Chr4:158868390 [GRCh38]
Chr4:159789542 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1121G>A (p.Arg374His) single nucleotide variant not specified [RCV004132071] Chr4:158859639 [GRCh38]
Chr4:159780791 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2371T>A (p.Ser791Thr) single nucleotide variant not specified [RCV004123596] Chr4:158869007 [GRCh38]
Chr4:159790159 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1531A>G (p.Lys511Glu) single nucleotide variant not specified [RCV004090552] Chr4:158868167 [GRCh38]
Chr4:159789319 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2126G>A (p.Arg709Gln) single nucleotide variant not specified [RCV004081372] Chr4:158868762 [GRCh38]
Chr4:159789914 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1275A>G (p.Ile425Met) single nucleotide variant not specified [RCV004093967] Chr4:158861468 [GRCh38]
Chr4:159782620 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2768T>C (p.Leu923Ser) single nucleotide variant not specified [RCV004251611] Chr4:158869404 [GRCh38]
Chr4:159790556 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2213T>C (p.Met738Thr) single nucleotide variant not specified [RCV004278071] Chr4:158868849 [GRCh38]
Chr4:159790001 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1351A>G (p.Thr451Ala) single nucleotide variant not specified [RCV004267208] Chr4:158861662 [GRCh38]
Chr4:159782814 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2833C>T (p.Arg945Cys) single nucleotide variant not specified [RCV004274371] Chr4:158870353 [GRCh38]
Chr4:159791505 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1970C>G (p.Ala657Gly) single nucleotide variant not specified [RCV004353635] Chr4:158868606 [GRCh38]
Chr4:159789758 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3097A>G (p.Ser1033Gly) single nucleotide variant not specified [RCV004365118] Chr4:158891593 [GRCh38]
Chr4:159812745 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1822A>G (p.Arg608Gly) single nucleotide variant not specified [RCV004334853] Chr4:158868458 [GRCh38]
Chr4:159789610 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_020840.3(FNIP2):c.1713G>A (p.Thr571=) single nucleotide variant not provided [RCV003439534] Chr4:158868349 [GRCh38]
Chr4:159789501 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1 copy number loss not specified [RCV003986505] Chr4:158835348..160065395 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_020840.3(FNIP2):c.1402A>G (p.Thr468Ala) single nucleotide variant not specified [RCV004392005] Chr4:158861713 [GRCh38]
Chr4:159782865 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2220A>T (p.Glu740Asp) single nucleotide variant not specified [RCV004392014] Chr4:158868856 [GRCh38]
Chr4:159790008 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.395C>T (p.Ala132Val) single nucleotide variant not specified [RCV004392022] Chr4:158831874 [GRCh38]
Chr4:159753026 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.891A>T (p.Glu297Asp) single nucleotide variant not specified [RCV004392023] Chr4:158859090 [GRCh38]
Chr4:159780242 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1712C>T (p.Thr571Met) single nucleotide variant not specified [RCV004392007] Chr4:158868348 [GRCh38]
Chr4:159789500 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2125C>T (p.Arg709Trp) single nucleotide variant not specified [RCV004392013] Chr4:158868761 [GRCh38]
Chr4:159789913 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.2368G>A (p.Glu790Lys) single nucleotide variant not specified [RCV004392016] Chr4:158869004 [GRCh38]
Chr4:159790156 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2593G>A (p.Val865Met) single nucleotide variant not specified [RCV004392020] Chr4:158869229 [GRCh38]
Chr4:159790381 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1732C>G (p.Leu578Val) single nucleotide variant not specified [RCV004392008] Chr4:158868368 [GRCh38]
Chr4:159789520 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1918G>A (p.Ala640Thr) single nucleotide variant not specified [RCV004392010] Chr4:158868554 [GRCh38]
Chr4:159789706 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2039A>G (p.Gln680Arg) single nucleotide variant not specified [RCV004392012] Chr4:158868675 [GRCh38]
Chr4:159789827 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2465C>T (p.Ala822Val) single nucleotide variant not specified [RCV004392017] Chr4:158869101 [GRCh38]
Chr4:159790253 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2584C>T (p.Pro862Ser) single nucleotide variant not specified [RCV004392019] Chr4:158869220 [GRCh38]
Chr4:159790372 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.1898G>T (p.Cys633Phe) single nucleotide variant not specified [RCV004392009] Chr4:158868534 [GRCh38]
Chr4:159789686 [GRCh37]
Chr4:4q32.1		 likely benign
NM_020840.3(FNIP2):c.2344C>T (p.Arg782Trp) single nucleotide variant not specified [RCV004392015] Chr4:158868980 [GRCh38]
Chr4:159790132 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1519G>A (p.Val507Ile) single nucleotide variant not specified [RCV004392006] Chr4:158868155 [GRCh38]
Chr4:159789307 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2014G>A (p.Gly672Arg) single nucleotide variant not specified [RCV004392011] Chr4:158868650 [GRCh38]
Chr4:159789802 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3287C>T (p.Pro1096Leu) single nucleotide variant not specified [RCV004626061] Chr4:158904486 [GRCh38]
Chr4:159825638 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.937A>G (p.Ile313Val) single nucleotide variant not specified [RCV004626058] Chr4:158859136 [GRCh38]
Chr4:159780288 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1573C>T (p.Leu525Phe) single nucleotide variant not specified [RCV004626059] Chr4:158868209 [GRCh38]
Chr4:159789361 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2123T>C (p.Leu708Pro) single nucleotide variant not specified [RCV004626060] Chr4:158868759 [GRCh38]
Chr4:159789911 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3014G>T (p.Ser1005Ile) single nucleotide variant not specified [RCV004626062] Chr4:158891510 [GRCh38]
Chr4:159812662 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2354A>G (p.Glu785Gly) single nucleotide variant not specified [RCV004626063] Chr4:158868990 [GRCh38]
Chr4:159790142 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2927C>T (p.Ala976Val) single nucleotide variant not specified [RCV004626064] Chr4:158870447 [GRCh38]
Chr4:159791599 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.287G>A (p.Ser96Asn) single nucleotide variant not specified [RCV004626065] Chr4:158829131 [GRCh38]
Chr4:159750283 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.25C>G (p.Leu9Val) single nucleotide variant not specified [RCV004919169] Chr4:158769237 [GRCh38]
Chr4:159690389 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.64G>A (p.Ala22Thr) single nucleotide variant not specified [RCV004919171] Chr4:158769276 [GRCh38]
Chr4:159690428 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.180A>T (p.Arg60Ser) single nucleotide variant not specified [RCV004919172] Chr4:158825988 [GRCh38]
Chr4:159747140 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2995G>A (p.Ala999Thr) single nucleotide variant not specified [RCV004919176] Chr4:158891491 [GRCh38]
Chr4:159812643 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2462C>T (p.Thr821Ile) single nucleotide variant not specified [RCV004919165] Chr4:158869098 [GRCh38]
Chr4:159790250 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.3301A>G (p.Ile1101Val) single nucleotide variant not specified [RCV004919170] Chr4:158904500 [GRCh38]
Chr4:159825652 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1400G>C (p.Arg467Pro) single nucleotide variant not specified [RCV004919177] Chr4:158861711 [GRCh38]
Chr4:159782863 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2437C>T (p.Leu813Phe) single nucleotide variant not specified [RCV004919178] Chr4:158869073 [GRCh38]
Chr4:159790225 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1067T>A (p.Ile356Asn) single nucleotide variant not specified [RCV004919173] Chr4:158859585 [GRCh38]
Chr4:159780737 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.134A>G (p.Asn45Ser) single nucleotide variant not specified [RCV004919174] Chr4:158825942 [GRCh38]
Chr4:159747094 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1912T>A (p.Ser638Thr) single nucleotide variant not specified [RCV004919175] Chr4:158868548 [GRCh38]
Chr4:159789700 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2390A>G (p.Glu797Gly) single nucleotide variant not specified [RCV004919166] Chr4:158869026 [GRCh38]
Chr4:159790178 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1976A>C (p.Gln659Pro) single nucleotide variant not specified [RCV004919168] Chr4:158868612 [GRCh38]
Chr4:159789764 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.2473G>A (p.Gly825Ser) single nucleotide variant not specified [RCV004919167] Chr4:158869109 [GRCh38]
Chr4:159790261 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_020840.3(FNIP2):c.1984T>C (p.Ser662Pro) single nucleotide variant not specified [RCV004919179] Chr4:158868620 [GRCh38]
Chr4:159789772 [GRCh37]
Chr4:4q32.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3636
Count of miRNA genes:1073
Interacting mature miRNAs:1329
Transcripts:ENST00000264433, ENST00000379346, ENST00000504704, ENST00000504715, ENST00000505130, ENST00000505445, ENST00000512986
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
597607901GWAS1664761_Hsecondary malignant neoplasm QTL GWAS1664761 (human)2e-13secondary malignant neoplasm4158891187158891188Human
597278620GWAS1374694_Hsex hormone-binding globulin measurement QTL GWAS1374694 (human)4e-09sex hormone-binding globulin measurement4158798803158798804Human
406951492GWAS600468_Hunipolar depression, depressive symptom measurement QTL GWAS600468 (human)0.000003unipolar depression, depressive symptom measurement4158858089158858090Human
597114546GWAS1210620_Hhealth study participation QTL GWAS1210620 (human)6e-09health study participation4158880959158880960Human
597281662GWAS1377736_Hinsomnia QTL GWAS1377736 (human)6e-09insomnia4158856612158856613Human
406968777GWAS617753_Hself reported educational attainment QTL GWAS617753 (human)2e-09self reported educational attainment4158811551158811552Human
597183952GWAS1280026_Hsmoking cessation QTL GWAS1280026 (human)9e-10smoking cessation4158882197158882198Human
597189621GWAS1285695_Hfree androgen index QTL GWAS1285695 (human)2e-09free androgen index4158798803158798804Human
597191466GWAS1287540_Hsex hormone-binding globulin measurement QTL GWAS1287540 (human)2e-22sex hormone-binding globulin measurement4158798803158798804Human
597333769GWAS1429843_Hsmoking cessation QTL GWAS1429843 (human)1e-10smoking cessation4158881221158881222Human
597281837GWAS1377911_Hsex hormone-binding globulin measurement QTL GWAS1377911 (human)3e-08sex hormone-binding globulin measurement4158882193158882194Human
597192556GWAS1288630_Hcortical thickness QTL GWAS1288630 (human)3e-10cortical thickness4158883113158883114Human
406993464GWAS642440_Hintelligence QTL GWAS642440 (human)0.000005intelligence4158805193158805194Human
597077004GWAS1173078_Hintelligence QTL GWAS1173078 (human)2e-09intelligence4158805193158805194Human
596963886GWAS1083405_Hdepressive symptom measurement, major depressive disorder QTL GWAS1083405 (human)0.000003depressive symptom measurement, major depressive disorder4158858089158858090Human
597244578GWAS1340652_Hsex hormone-binding globulin measurement QTL GWAS1340652 (human)7e-25sex hormone-binding globulin measurement4158798803158798804Human
597054571GWAS1150645_Hhousehold income QTL GWAS1150645 (human)1e-11household income4158866507158866508Human
597112297GWAS1208371_Hcoffee consumption measurement QTL GWAS1208371 (human)0.000002coffee consumption measurement4158881115158881116Human

Markers in Region
RH25875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,794,378 - 159,794,637UniSTSGRCh37
Build 364160,013,828 - 160,014,087RGDNCBI36
Celera4157,135,410 - 157,135,669RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,544,501 - 155,544,760UniSTS
SHGC-68047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,829,028 - 159,829,176UniSTSGRCh37
Build 364160,048,478 - 160,048,626RGDNCBI36
Celera4157,170,059 - 157,170,207RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,579,124 - 155,579,272UniSTS
TNG Radiation Hybrid Map495500.0UniSTS
SHGC-68119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,827,747 - 159,827,945UniSTSGRCh37
Build 364160,047,197 - 160,047,395RGDNCBI36
Celera4157,168,778 - 157,168,976RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,577,843 - 155,578,041UniSTS
TNG Radiation Hybrid Map495504.0UniSTS
GeneMap99-GB4 RH Map4646.49UniSTS
SHGC-83096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,811,756 - 159,811,959UniSTSGRCh37
Build 364160,031,206 - 160,031,409RGDNCBI36
Celera4157,152,788 - 157,152,991RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,561,854 - 155,562,057UniSTS
TNG Radiation Hybrid Map495504.0UniSTS
SHGC-81554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,809,100 - 159,809,372UniSTSGRCh37
Build 364160,028,550 - 160,028,822RGDNCBI36
Celera4157,150,133 - 157,150,405RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,559,199 - 155,559,471UniSTS
TNG Radiation Hybrid Map495497.0UniSTS
SHGC-57495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,794,985 - 159,795,079UniSTSGRCh37
Build 364160,014,435 - 160,014,529RGDNCBI36
Celera4157,136,017 - 157,136,111RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,545,108 - 155,545,202UniSTS
TNG Radiation Hybrid Map495504.0UniSTS
fc02f11.x1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373135,361,603 - 135,361,737UniSTSGRCh37
GRCh374159,755,465 - 159,756,013UniSTSGRCh37
Build 363136,844,293 - 136,844,427RGDNCBI36
Celera4157,096,496 - 157,097,038UniSTS
Celera3133,787,453 - 133,787,587RGD
Celera4157,096,498 - 157,097,038UniSTS
HuRef4155,505,567 - 155,506,115UniSTS
RH45922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,828,451 - 159,828,611UniSTSGRCh37
Build 364160,047,901 - 160,048,061RGDNCBI36
Celera4157,169,482 - 157,169,642RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,578,547 - 155,578,707UniSTS
GeneMap99-GB4 RH Map4646.49UniSTS
SHGC-59336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,795,391 - 159,795,540UniSTSGRCh37
Build 364160,014,841 - 160,014,990RGDNCBI36
Celera4157,136,423 - 157,136,572RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,545,514 - 155,545,663UniSTS
GeneMap99-GB4 RH Map4646.49UniSTS
Whitehead-RH Map4699.5UniSTS
D4S2535E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,795,456 - 159,795,571UniSTSGRCh37
Build 364160,014,906 - 160,015,021RGDNCBI36
Celera4157,136,488 - 157,136,603RGD
Cytogenetic Map4q32.1UniSTS
HuRef4155,545,579 - 155,545,694UniSTS
TNG Radiation Hybrid Map495504.0UniSTS
Stanford-G3 RH Map48750.0UniSTS
GeneMap99-GB4 RH Map4644.68UniSTS
NCBI RH Map41618.0UniSTS
GeneMap99-G3 RH Map48675.0UniSTS
D11S2766  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map4q26UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2433 2788 2243 4943 1723 2345 4 622 1918 464 2268 7257 6428 52 3709 848 1730 1612 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM806956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU753084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA420146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB482145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY049314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264433   ⟹   ENSP00000264433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,769,026 - 158,908,050 (+)Ensembl
Ensembl Acc Id: ENST00000504704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,769,194 - 158,836,658 (+)Ensembl
Ensembl Acc Id: ENST00000504715   ⟹   ENSP00000420841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,832,080 - 158,859,647 (+)Ensembl
Ensembl Acc Id: ENST00000505130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,870,359 - 158,890,188 (+)Ensembl
Ensembl Acc Id: ENST00000505445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,795,854 - 158,829,142 (+)Ensembl
Ensembl Acc Id: ENST00000512986   ⟹   ENSP00000421488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,806,094 - 158,868,586 (+)Ensembl
RefSeq Acc Id: NM_001323916   ⟹   NP_001310845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,908,050 (+)NCBI
CHM1_14159,703,727 - 159,805,664 (+)NCBI
T2T-CHM13v2.04162,156,593 - 162,258,820 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346043   ⟹   NP_001332972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,769,026 - 158,908,050 (+)NCBI
T2T-CHM13v2.04162,119,774 - 162,258,820 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366843   ⟹   NP_001353772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,908,050 (+)NCBI
T2T-CHM13v2.04162,156,593 - 162,258,820 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020840   ⟹   NP_065891
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,769,026 - 158,908,050 (+)NCBI
GRCh374159,690,182 - 159,829,202 (+)NCBI
Build 364159,909,632 - 160,047,408 (+)NCBI Archive
Celera4157,031,205 - 157,168,989 (+)RGD
HuRef4155,440,385 - 155,578,054 (+)RGD
CHM1_14159,666,618 - 159,805,664 (+)NCBI
T2T-CHM13v2.04162,119,774 - 162,258,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263158   ⟹   XP_005263215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,769,026 - 158,908,050 (+)NCBI
GRCh374159,690,182 - 159,829,202 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263160   ⟹   XP_005263217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,876,930 (+)NCBI
GRCh374159,690,182 - 159,829,202 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008487   ⟹   XP_016863976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,908,050 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454161   ⟹   XP_024309929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,880,619 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416017   ⟹   XP_047271973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,886,123 (+)NCBI
RefSeq Acc Id: XM_047416018   ⟹   XP_047271974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,769,026 - 158,876,930 (+)NCBI
RefSeq Acc Id: XM_047416019   ⟹   XP_047271975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,876,930 (+)NCBI
RefSeq Acc Id: XM_047416021   ⟹   XP_047271977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,805,839 - 158,880,619 (+)NCBI
RefSeq Acc Id: XM_047416022   ⟹   XP_047271978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,841,870 - 158,908,050 (+)NCBI
RefSeq Acc Id: XM_054350603   ⟹   XP_054206578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,156,593 - 162,258,820 (+)NCBI
RefSeq Acc Id: XM_054350604   ⟹   XP_054206579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,119,774 - 162,258,820 (+)NCBI
RefSeq Acc Id: XM_054350605   ⟹   XP_054206580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,156,593 - 162,227,740 (+)NCBI
RefSeq Acc Id: XM_054350606   ⟹   XP_054206581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,156,593 - 162,236,893 (+)NCBI
RefSeq Acc Id: XM_054350607   ⟹   XP_054206582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,119,774 - 162,227,740 (+)NCBI
RefSeq Acc Id: XM_054350608   ⟹   XP_054206583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,156,593 - 162,232,041 (+)NCBI
RefSeq Acc Id: XM_054350609   ⟹   XP_054206584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,156,593 - 162,227,740 (+)NCBI
RefSeq Acc Id: XM_054350610   ⟹   XP_054206585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,174,301 - 162,232,045 (+)NCBI
RefSeq Acc Id: XM_054350611   ⟹   XP_054206586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,156,593 - 162,232,041 (+)NCBI
RefSeq Acc Id: XM_054350612   ⟹   XP_054206587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04162,192,637 - 162,258,820 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001310845 (Get FASTA)   NCBI Sequence Viewer  
  NP_001332972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353772 (Get FASTA)   NCBI Sequence Viewer  
  NP_065891 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263215 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263217 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863976 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271973 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271974 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271975 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271977 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271978 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206578 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206579 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206580 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206581 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206582 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206583 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206584 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206585 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206586 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206587 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH07861 (Get FASTA)   NCBI Sequence Viewer  
  AAH16638 (Get FASTA)   NCBI Sequence Viewer  
  BAA95974 (Get FASTA)   NCBI Sequence Viewer  
  BAB14338 (Get FASTA)   NCBI Sequence Viewer  
  EAX04852 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264433
  ENSP00000264433.6
GenBank Protein Q9P278 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065891   ⟸   NM_020840
- Peptide Label: isoform 1
- UniProtKB: Q96I31 (UniProtKB/Swiss-Prot),   Q05DC3 (UniProtKB/Swiss-Prot),   Q9H994 (UniProtKB/Swiss-Prot),   Q9P278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263215   ⟸   XM_005263158
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005263217   ⟸   XM_005263160
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001310845   ⟸   NM_001323916
- Peptide Label: isoform 2
- UniProtKB: Q9P278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863976   ⟸   XM_017008487
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001332972   ⟸   NM_001346043
- Peptide Label: isoform 3
- UniProtKB: Q9P278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309929   ⟸   XM_024454161
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001353772   ⟸   NM_001366843
- Peptide Label: isoform 4
Ensembl Acc Id: ENSP00000420841   ⟸   ENST00000504715
Ensembl Acc Id: ENSP00000421488   ⟸   ENST00000512986
Ensembl Acc Id: ENSP00000264433   ⟸   ENST00000264433
RefSeq Acc Id: XP_047271974   ⟸   XM_047416018
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047271973   ⟸   XM_047416017
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047271977   ⟸   XM_047416021
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047271975   ⟸   XM_047416019
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047271978   ⟸   XM_047416022
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054206579   ⟸   XM_054350604
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206582   ⟸   XM_054350607
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054206578   ⟸   XM_054350603
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206581   ⟸   XM_054350606
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206583   ⟸   XM_054350608
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054206586   ⟸   XM_054350611
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054206580   ⟸   XM_054350605
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054206584   ⟸   XM_054350609
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054206585   ⟸   XM_054350610
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054206587   ⟸   XM_054350612
- Peptide Label: isoform X9
Protein Domains
cDENN FNIP1/2-type   dDENN FNIP1/2-type   UDENN FNIP1/2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P278-F1-model_v2 AlphaFold Q9P278 1-1114 view protein structure

Promoters
RGD ID:6868794
Promoter ID:EPDNEW_H7562
Type:initiation region
Name:FNIP2_1
Description:folliculin interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7563  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,769,074 - 158,769,134EPDNEW
RGD ID:6868796
Promoter ID:EPDNEW_H7563
Type:initiation region
Name:FNIP2_2
Description:folliculin interacting protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7562  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,806,090 - 158,806,150EPDNEW
RGD ID:6802348
Promoter ID:HG_KWN:49374
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_020840,   UC003IQD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 364159,909,411 - 159,910,112 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29280 AgrOrtholog
COSMIC FNIP2 COSMIC
Ensembl Genes ENSG00000052795 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264433 ENTREZGENE
  ENST00000264433.11 UniProtKB/Swiss-Prot
GTEx ENSG00000052795 GTEx
HGNC ID HGNC:29280 ENTREZGENE
Human Proteome Map FNIP2 Human Proteome Map
InterPro DENN_FNIP1/2 UniProtKB/Swiss-Prot
  FNIP_C_dom UniProtKB/Swiss-Prot
  FNIP_fam UniProtKB/Swiss-Prot
  FNIP_mid_dom UniProtKB/Swiss-Prot
  FNIP_N_dom UniProtKB/Swiss-Prot
KEGG Report hsa:57600 UniProtKB/Swiss-Prot
NCBI Gene 57600 ENTREZGENE
OMIM 612768 OMIM
PANTHER FOLLICULIN-INTERACTING PROTEIN 2 UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/Swiss-Prot
Pfam FNIP_C UniProtKB/Swiss-Prot
  FNIP_M UniProtKB/Swiss-Prot
  FNIP_N UniProtKB/Swiss-Prot
PharmGKB PA162388758 PharmGKB
PRINTS FOLLICULNIP1 UniProtKB/Swiss-Prot
PROSITE DENN_FNIP12 UniProtKB/Swiss-Prot
UniProt D6RFH5_HUMAN UniProtKB/TrEMBL
  FNIP2_HUMAN UniProtKB/Swiss-Prot
  H0Y8F3_HUMAN UniProtKB/TrEMBL
  Q05DC3 ENTREZGENE
  Q96I31 ENTREZGENE
  Q9H994 ENTREZGENE
  Q9P278 ENTREZGENE
UniProt Secondary Q05DC3 UniProtKB/Swiss-Prot
  Q96I31 UniProtKB/Swiss-Prot
  Q9H994 UniProtKB/Swiss-Prot