PHF11 (PHD finger protein 11) - Rat Genome Database

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Gene: PHF11 (PHD finger protein 11) Homo sapiens
Analyze
Symbol: PHF11
Name: PHD finger protein 11
RGD ID: 1321995
HGNC Page HGNC:17024
Description: Predicted to enable metal ion binding activity. Located in nuclear membrane and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APY; BCAP; BRCA1 C-terminus-associated protein; IgE responsiveness (atopic); IGEL; IGER; IGHER; NY-REN-34; NY-REN-34 antigen; NYREN34; renal carcinoma antigen NY-REN-34; RP11-185C18.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381349,495,953 - 49,528,976 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1349,495,610 - 49,528,981 (+)EnsemblGRCh38hg38GRCh38
GRCh371350,070,089 - 50,103,128 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361348,967,802 - 49,001,118 (+)NCBINCBI36Build 36hg18NCBI36
Build 341348,969,249 - 49,001,112NCBI
Celera1331,124,752 - 31,158,072 (+)NCBICelera
Cytogenetic Map13q14.2NCBI
HuRef1330,863,385 - 30,896,419 (+)NCBIHuRef
CHM1_11350,037,327 - 50,070,649 (+)NCBICHM1_1
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)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
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buspirone  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
Genipin  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
herbicide  (ISO)
indometacin  (EXP)
lipopolysaccharide  (ISO)
methyl methanesulfonate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
potassium chromate  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear membrane  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10508479   PMID:12477932   PMID:12754510   PMID:15057823   PMID:15489334   PMID:15674390   PMID:16344560   PMID:17702965   PMID:17703412   PMID:18405956   PMID:19237393  
PMID:19247692   PMID:19258923   PMID:19264973   PMID:19386584   PMID:19590686   PMID:19672052   PMID:19729874   PMID:19951440   PMID:19996348   PMID:20085599   PMID:20421878   PMID:20503287  
PMID:20627928   PMID:20701904   PMID:20716621   PMID:20717939   PMID:21320718   PMID:21348951   PMID:21873635   PMID:21988832   PMID:26186194   PMID:26573531   PMID:28514442   PMID:28775150  
PMID:29053956   PMID:32296183   PMID:33961781   PMID:36949045  


Genomics

Comparative Map Data
PHF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381349,495,953 - 49,528,976 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1349,495,610 - 49,528,981 (+)EnsemblGRCh38hg38GRCh38
GRCh371350,070,089 - 50,103,128 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361348,967,802 - 49,001,118 (+)NCBINCBI36Build 36hg18NCBI36
Build 341348,969,249 - 49,001,112NCBI
Celera1331,124,752 - 31,158,072 (+)NCBICelera
Cytogenetic Map13q14.2NCBI
HuRef1330,863,385 - 30,896,419 (+)NCBIHuRef
CHM1_11350,037,327 - 50,070,649 (+)NCBICHM1_1
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBIT2T-CHM13v2.0
Phf11d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391459,584,646 - 59,608,004 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1459,584,856 - 59,602,919 (-)EnsemblGRCm39 Ensembl
GRCm381459,347,407 - 59,365,490 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1459,347,407 - 59,365,470 (-)EnsemblGRCm38mm10GRCm38
MGSCv371459,966,244 - 59,984,327 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361458,302,842 - 58,319,557 (-)NCBIMGSCv36mm8
Celera1457,148,041 - 57,166,125 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1431.48NCBI
Phf11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81537,568,090 - 37,592,490 (-)NCBIGRCr8
mRatBN7.21533,390,290 - 33,414,647 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1533,390,292 - 33,413,009 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1535,382,401 - 35,405,147 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01536,533,072 - 36,555,818 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01534,852,690 - 34,875,409 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01538,692,817 - 39,683,417 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1538,647,779 - 38,709,984 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01542,526,169 - 42,545,873 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41538,443,971 - 38,477,944 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11538,388,421 - 38,580,524 (-)NCBI
Cytogenetic Map15p12NCBI
Phf11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554312,951,722 - 2,974,131 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554312,945,119 - 2,974,767 (+)NCBIChiLan1.0ChiLan1.0
PHF11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21450,935,190 - 50,969,917 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11349,587,579 - 49,621,614 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01330,636,035 - 30,670,262 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11349,386,374 - 49,419,316 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1349,386,374 - 49,419,310 (+)Ensemblpanpan1.1panPan2
PHF11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1222,235,758 - 2,263,772 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
PHF11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1118,205,078 - 18,251,948 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11118,205,073 - 18,252,082 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21118,519,921 - 18,566,748 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PHF11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1327,414,664 - 27,448,814 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl327,414,361 - 27,451,009 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605716,435,793 - 16,471,421 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PHF11
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 copy number loss See cases [RCV000051378] Chr13:43505396..49983668 [GRCh38]
Chr13:44079532..50557804 [GRCh37]
Chr13:42977532..49455805 [NCBI36]
Chr13:13q14.11-14.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
NM_001040443.3(PHF11):c.118A>G (p.Met40Val) single nucleotide variant Inborn genetic diseases [RCV003173068] Chr13:49506658 [GRCh38]
Chr13:50080794 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1 copy number loss See cases [RCV000136624] Chr13:48307302..50927473 [GRCh38]
Chr13:48881438..51501609 [GRCh37]
Chr13:47779439..50399610 [NCBI36]
Chr13:13q14.2-14.3		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.2(chr13:49476783-49716109)x3 copy number gain See cases [RCV000138801] Chr13:49476783..49716109 [GRCh38]
Chr13:50050919..50290245 [GRCh37]
Chr13:48948920..49188246 [NCBI36]
Chr13:13q14.2		 likely benign
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32		 pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3		 pathogenic
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3 copy number gain See cases [RCV000143577] Chr13:48591738..50064488 [GRCh38]
Chr13:49165874..50638624 [GRCh37]
Chr13:48063875..49536625 [NCBI36]
Chr13:13q14.2		 uncertain significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_001040443.3(PHF11):c.577G>A (p.Glu193Lys) single nucleotide variant Inborn genetic diseases [RCV003209983] Chr13:49523181 [GRCh38]
Chr13:50097317 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.2(chr13:49805984-50472203)x3 copy number gain See cases [RCV000446394] Chr13:49805984..50472203 [GRCh37]
Chr13:13q14.2		 likely pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1 copy number loss See cases [RCV000448535] Chr13:48906943..52778614 [GRCh37]
Chr13:13q14.2-14.3		 pathogenic
GRCh37/hg19 13q14.2(chr13:49726336-50158142)x1 copy number loss See cases [RCV000448039] Chr13:49726336..50158142 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1 copy number loss See cases [RCV000511479] Chr13:47312129..51342279 [GRCh37]
Chr13:13q14.2-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1		 likely pathogenic
GRCh37/hg19 13q14.2(chr13:49888597-50237499)x3 copy number gain not provided [RCV000683520] Chr13:49888597..50237499 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3 copy number gain not provided [RCV000683557] Chr13:48292731..50577868 [GRCh37]
Chr13:13q14.2		 uncertain significance
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2		 uncertain significance
GRCh37/hg19 13q14.2(chr13:50056792-50564776)x3 copy number gain not provided [RCV001006563] Chr13:50056792..50564776 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001040443.3(PHF11):c.297G>T (p.Lys99Asn) single nucleotide variant Inborn genetic diseases [RCV003273374] Chr13:49513139 [GRCh38]
Chr13:50087275 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3		 likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2(chr13:49888733-50238594)x3 copy number gain not provided [RCV002474947] Chr13:49888733..50238594 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.547C>A (p.Pro183Thr) single nucleotide variant Inborn genetic diseases [RCV002727857] Chr13:49522084 [GRCh38]
Chr13:50096220 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.934T>C (p.Ser312Pro) single nucleotide variant Inborn genetic diseases [RCV002682248] Chr13:49528603 [GRCh38]
Chr13:50102739 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.500A>C (p.Gln167Pro) single nucleotide variant Inborn genetic diseases [RCV002774130] Chr13:49520935 [GRCh38]
Chr13:50095071 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.784G>A (p.Gly262Arg) single nucleotide variant Inborn genetic diseases [RCV002794033] Chr13:49526401 [GRCh38]
Chr13:50100537 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.275G>A (p.Ser92Asn) single nucleotide variant Inborn genetic diseases [RCV002773088] Chr13:49513117 [GRCh38]
Chr13:50087253 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001040443.3(PHF11):c.694T>A (p.Tyr232Asn) single nucleotide variant Inborn genetic diseases [RCV002827142] Chr13:49524141 [GRCh38]
Chr13:50098277 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.123A>T (p.Glu41Asp) single nucleotide variant Inborn genetic diseases [RCV002897702] Chr13:49506663 [GRCh38]
Chr13:50080799 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.547C>T (p.Pro183Ser) single nucleotide variant Inborn genetic diseases [RCV002746943] Chr13:49522084 [GRCh38]
Chr13:50096220 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.973T>A (p.Ser325Thr) single nucleotide variant Inborn genetic diseases [RCV003185693] Chr13:49528642 [GRCh38]
Chr13:50102778 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.254A>T (p.Asp85Val) single nucleotide variant Inborn genetic diseases [RCV003217031] Chr13:49513096 [GRCh38]
Chr13:50087232 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.814G>A (p.Glu272Lys) single nucleotide variant Inborn genetic diseases [RCV003349510] Chr13:49526431 [GRCh38]
Chr13:50100567 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001040443.3(PHF11):c.94+14GGGC[4] microsatellite not provided [RCV003834053] Chr13:49496109..49496112 [GRCh38]
Chr13:50070245..50070248 [GRCh37]
Chr13:13q14.2		 benign
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2		 pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
NM_001040443.3(PHF11):c.420C>T (p.Asp140=) single nucleotide variant PHF11-related condition [RCV003936767] Chr13:49518113 [GRCh38]
Chr13:50092249 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001040443.3(PHF11):c.171A>G (p.Leu57=) single nucleotide variant PHF11-related condition [RCV003979649] Chr13:49506711 [GRCh38]
Chr13:50080847 [GRCh37]
Chr13:13q14.2		 benign
NM_001040443.3(PHF11):c.*9G>A single nucleotide variant PHF11-related condition [RCV003974504] Chr13:49528674 [GRCh38]
Chr13:50102810 [GRCh37]
Chr13:13q14.2		 benign
NM_001040443.3(PHF11):c.459-26_459-2dup duplication PHF11-related condition [RCV003961981] Chr13:49520866..49520867 [GRCh38]
Chr13:50095002..50095003 [GRCh37]
Chr13:13q14.2		 likely benign
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2126
Count of miRNA genes:836
Interacting mature miRNAs:965
Transcripts:ENST00000357596, ENST00000378319, ENST00000426879, ENST00000442195, ENST00000460489, ENST00000465045, ENST00000467763, ENST00000476953, ENST00000481509, ENST00000482487, ENST00000485919, ENST00000486276, ENST00000487433, ENST00000488605, ENST00000488958, ENST00000495157, ENST00000496612, ENST00000496623
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.

Markers in Region
SHGC-34033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,101,047 - 50,101,180UniSTSGRCh37
Build 361348,999,048 - 48,999,181RGDNCBI36
Celera1331,156,002 - 31,156,135RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,894,344 - 30,894,477UniSTS
GeneMap99-GB4 RH Map13155.43UniSTS
Whitehead-RH Map13145.3UniSTS
NCBI RH Map13467.1UniSTS
GeneMap99-G3 RH Map131294.0UniSTS
G09507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,100,352 - 50,100,433UniSTSGRCh37
Build 361348,998,353 - 48,998,434RGDNCBI36
Celera1331,155,307 - 31,155,388RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,893,649 - 30,893,730UniSTS
STS-AA039375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,068,904 - 50,069,125UniSTSGRCh37
Build 361348,966,905 - 48,967,126RGDNCBI36
Celera1331,123,857 - 31,124,078RGD
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map13q14UniSTS
HuRef1330,862,495 - 30,862,716UniSTS
GeneMap99-GB4 RH Map13148.18UniSTS
SHGC-34145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,102,968 - 50,103,072UniSTSGRCh37
Build 361349,000,969 - 49,001,073RGDNCBI36
Celera1331,157,923 - 31,158,027RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,896,270 - 30,896,374UniSTS
GeneMap99-GB4 RH Map13155.43UniSTS
Whitehead-RH Map13145.3UniSTS
NCBI RH Map13467.1UniSTS
GeneMap99-G3 RH Map131295.0UniSTS
STS-R48791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,102,821 - 50,103,073UniSTSGRCh37
Build 361349,000,822 - 49,001,074RGDNCBI36
Celera1331,157,776 - 31,158,028RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,896,123 - 30,896,375UniSTS
GeneMap99-GB4 RH Map13155.33UniSTS
PHF11__PHF11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,102,711 - 50,103,266UniSTSGRCh37
Build 361349,000,712 - 49,001,267RGDNCBI36
Celera1331,157,666 - 31,158,221RGD
HuRef1330,896,013 - 30,896,568UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2176 1961 1351 293 1638 138 3289 943 1320 272 1123 1404 162 1173 1996 1
Low 252 1023 372 329 309 326 1059 1232 2368 145 323 186 8 31 792 3
Below cutoff 4 1 1 6 16 18 1 3 17 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001419873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001419874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001419875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001419876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA765949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB011031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL552215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE621153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX461254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA652444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB050568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357596   ⟹   ENSP00000350209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,392 - 49,528,981 (+)Ensembl
RefSeq Acc Id: ENST00000378319   ⟹   ENSP00000367570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,495,953 - 49,528,976 (+)Ensembl
RefSeq Acc Id: ENST00000426879   ⟹   ENSP00000394883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,016 - 49,528,708 (+)Ensembl
RefSeq Acc Id: ENST00000442195   ⟹   ENSP00000405227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,400 - 49,523,225 (+)Ensembl
RefSeq Acc Id: ENST00000460489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,521,937 - 49,524,080 (+)Ensembl
RefSeq Acc Id: ENST00000465045   ⟹   ENSP00000418630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,397 - 49,528,976 (+)Ensembl
RefSeq Acc Id: ENST00000467763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,495,984 - 49,522,060 (+)Ensembl
RefSeq Acc Id: ENST00000476953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,013 - 49,522,088 (+)Ensembl
RefSeq Acc Id: ENST00000481509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,495,665 - 49,518,060 (+)Ensembl
RefSeq Acc Id: ENST00000482487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,495,610 - 49,521,033 (+)Ensembl
RefSeq Acc Id: ENST00000485919   ⟹   ENSP00000420129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,397 - 49,518,105 (+)Ensembl
RefSeq Acc Id: ENST00000486276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,526,189 - 49,528,976 (+)Ensembl
RefSeq Acc Id: ENST00000487433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,236 - 49,518,151 (+)Ensembl
RefSeq Acc Id: ENST00000488605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,521,956 - 49,527,354 (+)Ensembl
RefSeq Acc Id: ENST00000488958   ⟹   ENSP00000417539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,497,113 - 49,528,976 (+)Ensembl
RefSeq Acc Id: ENST00000495157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,521,929 - 49,528,536 (+)Ensembl
RefSeq Acc Id: ENST00000496612   ⟹   ENSP00000419229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,496,355 - 49,523,207 (+)Ensembl
RefSeq Acc Id: ENST00000496623   ⟹   ENSP00000483500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,495,970 - 49,518,834 (+)Ensembl
RefSeq Acc Id: NM_001040443   ⟹   NP_001035533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
GRCh371350,069,746 - 50,103,123 (+)NCBI
Build 361348,967,802 - 49,001,118 (+)NCBI Archive
HuRef1330,863,385 - 30,896,419 (+)ENTREZGENE
CHM1_11350,037,272 - 50,070,660 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001040444   ⟹   NP_001035534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
GRCh371350,069,746 - 50,103,123 (+)NCBI
Build 361348,968,529 - 49,001,118 (+)NCBI Archive
HuRef1330,863,385 - 30,896,419 (+)ENTREZGENE
CHM1_11350,038,714 - 50,070,660 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001419873   ⟹   NP_001406802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
RefSeq Acc Id: NM_001419874   ⟹   NP_001406803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
RefSeq Acc Id: NM_001419875   ⟹   NP_001406804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
RefSeq Acc Id: NM_001419876   ⟹   NP_001406805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
RefSeq Acc Id: NR_135322
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
CHM1_11350,037,272 - 50,070,660 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135323
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,953 - 49,528,976 (+)NCBI
CHM1_11350,038,005 - 50,070,660 (+)NCBI
T2T-CHM13v2.01348,714,592 - 48,747,507 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001035533   ⟸   NM_001040443
- Peptide Label: isoform a
- UniProtKB: Q5W0A6 (UniProtKB/Swiss-Prot),   Q5W0A4 (UniProtKB/Swiss-Prot),   Q9Y5A2 (UniProtKB/Swiss-Prot),   Q9UIL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035534   ⟸   NM_001040444
- Peptide Label: isoform b
- UniProtKB: H0Y4X7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000394883   ⟸   ENST00000426879
RefSeq Acc Id: ENSP00000418630   ⟸   ENST00000465045
RefSeq Acc Id: ENSP00000367570   ⟸   ENST00000378319
RefSeq Acc Id: ENSP00000405227   ⟸   ENST00000442195
RefSeq Acc Id: ENSP00000419229   ⟸   ENST00000496612
RefSeq Acc Id: ENSP00000483500   ⟸   ENST00000496623
RefSeq Acc Id: ENSP00000420129   ⟸   ENST00000485919
RefSeq Acc Id: ENSP00000417539   ⟸   ENST00000488958
RefSeq Acc Id: ENSP00000350209   ⟸   ENST00000357596
RefSeq Acc Id: NP_001406803   ⟸   NM_001419874
- Peptide Label: isoform b
RefSeq Acc Id: NP_001406805   ⟸   NM_001419876
- Peptide Label: isoform b
RefSeq Acc Id: NP_001406802   ⟸   NM_001419873
- Peptide Label: isoform b
RefSeq Acc Id: NP_001406804   ⟸   NM_001419875
- Peptide Label: isoform b
Protein Domains
PHD-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UIL8-F1-model_v2 AlphaFold Q9UIL8 1-331 view protein structure

Promoters
RGD ID:6791016
Promoter ID:HG_KWN:17859
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378315,   NM_001040444,   OTTHUMT00000044915,   OTTHUMT00000044916,   OTTHUMT00000044918,   OTTHUMT00000044919,   OTTHUMT00000044920,   UC001VDD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361348,967,416 - 48,968,417 (+)MPROMDB
RGD ID:6815051
Promoter ID:HG_MRA:4346
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF155105
Position:
Human AssemblyChrPosition (strand)Source
Build 361348,969,361 - 48,969,861 (+)MPROMDB
RGD ID:6791060
Promoter ID:HG_KWN:17860
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000044921,   OTTHUMT00000044922,   OTTHUMT00000044923
Position:
Human AssemblyChrPosition (strand)Source
Build 361348,994,241 - 48,994,741 (+)MPROMDB
RGD ID:7226439
Promoter ID:EPDNEW_H18965
Type:initiation region
Name:PHF11_3
Description:PHD finger protein 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18966  EPDNEW_H18967  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,603 - 49,495,663EPDNEW
RGD ID:7226441
Promoter ID:EPDNEW_H18966
Type:initiation region
Name:PHF11_1
Description:PHD finger protein 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18965  EPDNEW_H18967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,495,970 - 49,496,030EPDNEW
RGD ID:7226447
Promoter ID:EPDNEW_H18967
Type:multiple initiation site
Name:PHF11_2
Description:PHD finger protein 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18965  EPDNEW_H18966  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,496,481 - 49,496,541EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17024 AgrOrtholog
COSMIC PHF11 COSMIC
Ensembl Genes ENSG00000136147 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357596 ENTREZGENE
  ENST00000357596.7 UniProtKB/Swiss-Prot
  ENST00000378319 ENTREZGENE
  ENST00000378319.8 UniProtKB/Swiss-Prot
  ENST00000426879.5 UniProtKB/TrEMBL
  ENST00000442195.5 UniProtKB/TrEMBL
  ENST00000465045.5 UniProtKB/TrEMBL
  ENST00000485919.5 UniProtKB/TrEMBL
  ENST00000488958 ENTREZGENE
  ENST00000488958.5 UniProtKB/Swiss-Prot
  ENST00000496612.5 UniProtKB/TrEMBL
  ENST00000496623.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136147 GTEx
HGNC ID HGNC:17024 ENTREZGENE
Human Proteome Map PHF11 Human Proteome Map
InterPro EPHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51131 ENTREZGENE
OMIM 607796 OMIM
PANTHER PHD FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD FINGER PROTEIN 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-HC5HC2H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134947696 PharmGKB
PROSITE EPHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DDL5_HUMAN UniProtKB/TrEMBL
  B4DTX8_HUMAN UniProtKB/TrEMBL
  C9JQV2_HUMAN UniProtKB/TrEMBL
  C9JWH0_HUMAN UniProtKB/TrEMBL
  H0Y4X7 ENTREZGENE, UniProtKB/TrEMBL
  J3KR57_HUMAN UniProtKB/TrEMBL
  PHF11_HUMAN UniProtKB/Swiss-Prot
  Q5W0A4 ENTREZGENE
  Q5W0A6 ENTREZGENE
  Q9UIL8 ENTREZGENE
  Q9Y5A2 ENTREZGENE
  X6RH80_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5W0A4 UniProtKB/Swiss-Prot
  Q5W0A6 UniProtKB/Swiss-Prot
  Q9Y5A2 UniProtKB/Swiss-Prot