NIBAN2 (niban apoptosis regulator 2) - Rat Genome Database

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Gene: NIBAN2 (niban apoptosis regulator 2) Homo sapiens
Analyze
Symbol: NIBAN2
Name: niban apoptosis regulator 2
RGD ID: 1315963
HGNC Page HGNC:25282
Description: Enables transcription coactivator activity. Involved in several processes, including gonadotropin secretion; negative regulation of apoptotic process; and regulation of nucleobase-containing compound metabolic process. Located in several cellular components, including adherens junction; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA356B19.6; C9orf88; DKFZP434H0820; FAM129B; family with sequence similarity 129 member B; family with sequence similarity 129, member B; FLJ13518; FLJ22151; FLJ22298; MEG-3; melanoma invasion by ERK; MINERVA; niban-like protein 1; OC58
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
GRCh389127,505,343 - 127,579,031 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,505,339 - 127,578,989 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,267,622 - 130,341,310 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,307,439 - 129,381,089 (-)NCBINCBI36Build 36hg18NCBI36
Build 349127,347,172 - 127,410,909NCBI
Celera9100,918,505 - 100,992,132 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef999,883,553 - 99,957,416 (-)NCBIHuRef
CHM1_19130,418,921 - 130,492,461 (-)NCBICHM1_1
T2T-CHM13v2.09139,712,305 - 139,786,022 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
aconitine  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
chlordecone  (ISO)
chloroethene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
FR900359  (EXP)
furan  (ISO)
inulin  (ISO)
ivermectin  (EXP)
ketoconazole  (EXP)
lipopolysaccharide  (ISO)
methoxychlor  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
rac-lactic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:14602737   PMID:14702039   PMID:15146197   PMID:15231748   PMID:15302935   PMID:15489334   PMID:16083285   PMID:16964243   PMID:17081983   PMID:17569660   PMID:18628527   PMID:19056867  
PMID:19362540   PMID:19615732   PMID:20032057   PMID:20179190   PMID:20360068   PMID:20467437   PMID:21148485   PMID:22863883   PMID:22939629   PMID:23533145   PMID:23858473   PMID:25468996  
PMID:25921289   PMID:26638075   PMID:26721396   PMID:26760575   PMID:27880917   PMID:28416489   PMID:28514442   PMID:28978906   PMID:29117863   PMID:29568061   PMID:30442766   PMID:30575818  
PMID:30639242   PMID:30711629   PMID:31262713   PMID:31409639   PMID:31470122   PMID:31478661   PMID:31871319   PMID:32062451   PMID:32513696   PMID:32687490   PMID:32786267   PMID:33142954  
PMID:33462405   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34795231   PMID:35253629   PMID:35337019   PMID:35384245   PMID:35509820   PMID:35545034   PMID:35562734  
PMID:35831314   PMID:35850772   PMID:36168627   PMID:36168628   PMID:36215168   PMID:36232890   PMID:37232246   PMID:37774976   PMID:37827155   PMID:38117590   PMID:38496616  


Genomics

Comparative Map Data
NIBAN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,505,343 - 127,579,031 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,505,339 - 127,578,989 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,267,622 - 130,341,310 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,307,439 - 129,381,089 (-)NCBINCBI36Build 36hg18NCBI36
Build 349127,347,172 - 127,410,909NCBI
Celera9100,918,505 - 100,992,132 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef999,883,553 - 99,957,416 (-)NCBIHuRef
CHM1_19130,418,921 - 130,492,461 (-)NCBICHM1_1
T2T-CHM13v2.09139,712,305 - 139,786,022 (-)NCBIT2T-CHM13v2.0
Niban2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,766,146 - 32,815,265 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,766,126 - 32,815,266 (+)EnsemblGRCm39 Ensembl
GRCm38232,876,134 - 32,925,253 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,876,114 - 32,925,254 (+)EnsemblGRCm38mm10GRCm38
MGSCv37232,731,654 - 32,780,773 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36232,698,234 - 32,747,258 (+)NCBIMGSCv36mm8
Celera232,583,095 - 32,632,235 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Niban2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,572,356 - 36,621,968 (+)NCBIGRCr8
mRatBN7.2316,174,674 - 16,224,293 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl316,174,659 - 16,224,293 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx319,242,343 - 19,292,066 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,827,347 - 27,877,070 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0326,079,098 - 26,128,723 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0311,921,715 - 11,971,327 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl311,921,715 - 11,971,327 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0317,257,993 - 17,307,290 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,862,604 - 11,912,117 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1311,759,166 - 11,808,481 (+)NCBI
Celera310,914,173 - 10,963,784 (+)NCBICelera
Cytogenetic Map3p11NCBI
Niban2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554191,072,243 - 1,119,620 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554191,089,602 - 1,119,620 (+)NCBIChiLan1.0ChiLan1.0
NIBAN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,784,223 - 11,849,159 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,787,847 - 11,851,506 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0998,625,411 - 98,689,077 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,299,475 - 127,362,552 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,299,475 - 127,371,459 (-)Ensemblpanpan1.1panPan2
NIBAN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,802,010 - 55,853,960 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,802,014 - 55,852,540 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha954,994,587 - 55,046,576 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0956,723,425 - 56,775,654 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl956,723,409 - 56,775,654 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1955,483,586 - 55,535,366 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,798,215 - 55,850,400 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0955,889,577 - 55,941,107 (+)NCBIUU_Cfam_GSD_1.0
Niban2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,452,680 - 195,500,994 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,221,241 - 15,269,521 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,221,207 - 15,269,515 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NIBAN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,010,297 - 268,065,930 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,010,297 - 268,066,022 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21301,920,994 - 301,974,856 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NIBAN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,556,661 - 10,621,281 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,556,650 - 10,621,589 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660795,595,833 - 5,661,162 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Niban2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247607,951,934 - 7,996,256 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247607,951,943 - 7,996,260 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NIBAN2
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 copy number loss See cases [RCV000050860] Chr9:126081595..127781685 [GRCh38]
Chr9:128843874..130543964 [GRCh37]
Chr9:127883695..129583785 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele deletion Developmental and epileptic encephalopathy, 4 [RCV000735211] Chr9:130248090..130388197 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_022833.4(NIBAN2):c.242A>T (p.Asp81Val) single nucleotide variant not specified [RCV004327112] Chr9:127527267 [GRCh38]
Chr9:130289546 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.925A>G (p.Met309Val) single nucleotide variant not specified [RCV004295191] Chr9:127516905 [GRCh38]
Chr9:130279184 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_022833.4(NIBAN2):c.263G>A (p.Arg88His) single nucleotide variant not specified [RCV004295023] Chr9:127527246 [GRCh38]
Chr9:130289525 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3 copy number gain not provided [RCV000683108] Chr9:130000337..130310336 [GRCh37]
Chr9:9q33.3-34.11		 likely benign
GRCh37/hg19 9q34.11(chr9:130323808-130428471)x3 copy number gain not provided [RCV000683075] Chr9:130323808..130428471 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130335766-130517907) copy number loss Developmental and epileptic encephalopathy, 4 [RCV000767646] Chr9:130335766..130517907 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_022833.4(NIBAN2):c.118C>G (p.Leu40Val) single nucleotide variant not specified [RCV004292388] Chr9:127531716 [GRCh38]
Chr9:130293995 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_022833.4(NIBAN2):c.1838C>T (p.Ser613Leu) single nucleotide variant not specified [RCV004311094] Chr9:127507248 [GRCh38]
Chr9:130269527 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.59A>C (p.Lys20Thr) single nucleotide variant not specified [RCV004293808] Chr9:127531775 [GRCh38]
Chr9:130294054 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31 [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130306022-130522616) copy number loss not specified [RCV002052847] Chr9:130306022..130522616 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NC_000009.11:g.(?_130216807)_(130446756_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001940166] Chr9:130216807..130446756 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(130700099_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001920331] Chr9:130216807..130700099 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_022833.4(NIBAN2):c.1053G>C (p.Met351Ile) single nucleotide variant not specified [RCV004264704] Chr9:127510254 [GRCh38]
Chr9:130272533 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.13C>G (p.Leu5Val) single nucleotide variant not specified [RCV004262467] Chr9:127568862 [GRCh38]
Chr9:130331141 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.200A>C (p.Glu67Ala) single nucleotide variant not specified [RCV004278137] Chr9:127527309 [GRCh38]
Chr9:130289588 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.941C>A (p.Thr314Asn) single nucleotide variant not specified [RCV004248020] Chr9:127516889 [GRCh38]
Chr9:130279168 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.841G>A (p.Glu281Lys) single nucleotide variant not specified [RCV004268435] Chr9:127516989 [GRCh38]
Chr9:130279268 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.320A>G (p.Tyr107Cys) single nucleotide variant not specified [RCV004277023] Chr9:127525159 [GRCh38]
Chr9:130287438 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.667T>C (p.Tyr223His) single nucleotide variant not specified [RCV004279893] Chr9:127517864 [GRCh38]
Chr9:130280143 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.2087C>T (p.Ser696Leu) single nucleotide variant not specified [RCV004252888] Chr9:127506999 [GRCh38]
Chr9:130269278 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.2050C>T (p.Pro684Ser) single nucleotide variant not specified [RCV004250421] Chr9:127507036 [GRCh38]
Chr9:130269315 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1753G>A (p.Ala585Thr) single nucleotide variant not specified [RCV004345275] Chr9:127507333 [GRCh38]
Chr9:130269612 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1399A>C (p.Lys467Gln) single nucleotide variant not specified [RCV004355019] Chr9:127508457 [GRCh38]
Chr9:130270736 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.429G>T (p.Thr143=) single nucleotide variant not provided [RCV003430248] Chr9:127523839 [GRCh38]
Chr9:130286118 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q33.3-34.11(chr9:130211733-130365761)x1 copy number loss not specified [RCV003986802] Chr9:130211733..130365761 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1484C>T (p.Ala495Val) single nucleotide variant not specified [RCV004490757] Chr9:127508151 [GRCh38]
Chr9:130270430 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1672G>C (p.Val558Leu) single nucleotide variant not specified [RCV004490760] Chr9:127507414 [GRCh38]
Chr9:130269693 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1789G>A (p.Gly597Ser) single nucleotide variant not specified [RCV004490761] Chr9:127507297 [GRCh38]
Chr9:130269576 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1850G>A (p.Arg617Gln) single nucleotide variant not specified [RCV004490762] Chr9:127507236 [GRCh38]
Chr9:130269515 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1940C>T (p.Pro647Leu) single nucleotide variant not specified [RCV004490766] Chr9:127507146 [GRCh38]
Chr9:130269425 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1951A>G (p.Thr651Ala) single nucleotide variant not specified [RCV004490767] Chr9:127507135 [GRCh38]
Chr9:130269414 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.206T>C (p.Ile69Thr) single nucleotide variant not specified [RCV004490769] Chr9:127527303 [GRCh38]
Chr9:130289582 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.215C>T (p.Ser72Leu) single nucleotide variant not specified [RCV004490773] Chr9:127527294 [GRCh38]
Chr9:130289573 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.289G>A (p.Gly97Arg) single nucleotide variant not specified [RCV004490774] Chr9:127527220 [GRCh38]
Chr9:130289499 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.314C>T (p.Ala105Val) single nucleotide variant not specified [RCV004490775] Chr9:127527195 [GRCh38]
Chr9:130289474 [GRCh37]
Chr9:9q34.11		 likely benign
NM_022833.4(NIBAN2):c.326G>A (p.Arg109Gln) single nucleotide variant not specified [RCV004490776] Chr9:127525153 [GRCh38]
Chr9:130287432 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.500C>T (p.Ala167Val) single nucleotide variant not specified [RCV004490780] Chr9:127523768 [GRCh38]
Chr9:130286047 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.574C>T (p.Arg192Trp) single nucleotide variant not specified [RCV004490783] Chr9:127523694 [GRCh38]
Chr9:130285973 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.623C>T (p.Ala208Val) single nucleotide variant not specified [RCV004490784] Chr9:127517908 [GRCh38]
Chr9:130280187 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.861C>T (p.Phe287=) single nucleotide variant not specified [RCV004490789] Chr9:127516969 [GRCh38]
Chr9:130279248 [GRCh37]
Chr9:9q34.11		 likely benign
NM_022833.4(NIBAN2):c.898G>A (p.Ala300Thr) single nucleotide variant not specified [RCV004490790] Chr9:127516932 [GRCh38]
Chr9:130279211 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.985C>G (p.Pro329Ala) single nucleotide variant not specified [RCV004490792] Chr9:127510322 [GRCh38]
Chr9:130272601 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.985C>T (p.Pro329Ser) single nucleotide variant not specified [RCV004490793] Chr9:127510322 [GRCh38]
Chr9:130272601 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1163A>T (p.Tyr388Phe) single nucleotide variant not specified [RCV004490752] Chr9:127509130 [GRCh38]
Chr9:130271409 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1333G>A (p.Val445Met) single nucleotide variant not specified [RCV004490755] Chr9:127508523 [GRCh38]
Chr9:130270802 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.2078C>T (p.Pro693Leu) single nucleotide variant not specified [RCV004490770] Chr9:127507008 [GRCh38]
Chr9:130269287 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.2116G>T (p.Ala706Ser) single nucleotide variant not specified [RCV004490771] Chr9:127506970 [GRCh38]
Chr9:130269249 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.565G>C (p.Asp189His) single nucleotide variant not specified [RCV004490782] Chr9:127523703 [GRCh38]
Chr9:130285982 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.797G>A (p.Arg266Gln) single nucleotide variant not specified [RCV004490788] Chr9:127517125 [GRCh38]
Chr9:130279404 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1217A>G (p.Tyr406Cys) single nucleotide variant not specified [RCV004490753] Chr9:127509076 [GRCh38]
Chr9:130271355 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1441G>A (p.Asp481Asn) single nucleotide variant not specified [RCV004490756] Chr9:127508194 [GRCh38]
Chr9:130270473 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1486C>G (p.Leu496Val) single nucleotide variant not specified [RCV004490758] Chr9:127508149 [GRCh38]
Chr9:130270428 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1591A>T (p.Ile531Phe) single nucleotide variant not specified [RCV004490759] Chr9:127507930 [GRCh38]
Chr9:130270209 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1852C>T (p.Arg618Cys) single nucleotide variant not specified [RCV004490763] Chr9:127507234 [GRCh38]
Chr9:130269513 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1931C>T (p.Pro644Leu) single nucleotide variant not specified [RCV004490765] Chr9:127507155 [GRCh38]
Chr9:130269434 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.34G>T (p.Ala12Ser) single nucleotide variant not specified [RCV004490777] Chr9:127568841 [GRCh38]
Chr9:130331120 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.367A>C (p.Lys123Gln) single nucleotide variant not specified [RCV004490778] Chr9:127525112 [GRCh38]
Chr9:130287391 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.451A>G (p.Ile151Val) single nucleotide variant not specified [RCV004490779] Chr9:127523817 [GRCh38]
Chr9:130286096 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.532G>A (p.Ala178Thr) single nucleotide variant not specified [RCV004490781] Chr9:127523736 [GRCh38]
Chr9:130286015 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.926T>C (p.Met309Thr) single nucleotide variant not specified [RCV004490791] Chr9:127516904 [GRCh38]
Chr9:130279183 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1141G>A (p.Gly381Ser) single nucleotide variant not specified [RCV004490751] Chr9:127510166 [GRCh38]
Chr9:130272445 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.1232C>T (p.Ser411Leu) single nucleotide variant not specified [RCV004490754] Chr9:127509061 [GRCh38]
Chr9:130271340 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.763C>T (p.Pro255Ser) single nucleotide variant not specified [RCV004490786] Chr9:127517159 [GRCh38]
Chr9:130279438 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.2059G>A (p.Ala687Thr) single nucleotide variant not specified [RCV004490768] Chr9:127507027 [GRCh38]
Chr9:130269306 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.64G>A (p.Gly22Arg) single nucleotide variant not specified [RCV004490785] Chr9:127531770 [GRCh38]
Chr9:130294049 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_022833.4(NIBAN2):c.764C>T (p.Pro255Leu) single nucleotide variant not specified [RCV004490787] Chr9:127517158 [GRCh38]
Chr9:130279437 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3537
Count of miRNA genes:853
Interacting mature miRNAs:1076
Transcripts:ENST00000373312, ENST00000373314, ENST00000465154, ENST00000468379, ENST00000476091, ENST00000478917, ENST00000484348
Prediction methods: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
RH118517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,341,650 - 130,341,925UniSTSGRCh37
Build 369129,381,471 - 129,381,746RGDNCBI36
Celera9100,992,514 - 100,992,789RGD
Cytogenetic Map9q34.13UniSTS
HuRef999,957,798 - 99,958,073UniSTS
SHGC-148897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,303,185 - 130,303,476UniSTSGRCh37
Build 369129,343,006 - 129,343,297RGDNCBI36
Celera9100,954,047 - 100,954,338RGD
Cytogenetic Map9q34.13UniSTS
HuRef999,919,111 - 99,919,402UniSTS
TNG Radiation Hybrid Map1319112.0UniSTS
SHGC-149487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,303,642 - 130,303,914UniSTSGRCh37
Build 369129,343,463 - 129,343,735RGDNCBI36
Celera9100,954,504 - 100,954,776RGD
Cytogenetic Map9q34.13UniSTS
HuRef999,919,568 - 99,919,840UniSTS
WIAF-2190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,267,741 - 130,267,924UniSTSGRCh37
Build 369129,307,562 - 129,307,745RGDNCBI36
Celera9100,918,628 - 100,918,811RGD
Cytogenetic Map9q34.13UniSTS
HuRef999,883,676 - 99,883,859UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS
RH36266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,306,546 - 130,306,654UniSTSGRCh37
Build 369129,346,367 - 129,346,475RGDNCBI36
Celera9100,957,408 - 100,957,516RGD
Cytogenetic Map9q34.13UniSTS
HuRef999,922,472 - 99,922,580UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 1 13 2
Medium 2430 2655 1501 404 1079 246 3778 1542 3343 415 1422 1603 171 1204 2212 4
Low 6 328 223 220 721 219 577 652 370 4 20 4 3 1 576 2 2
Below cutoff 2 4 2 128 3 19 5 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001035534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE300704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM557756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX280720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN423640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373312   ⟹   ENSP00000362409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,505,343 - 127,569,073 (-)Ensembl
RefSeq Acc Id: ENST00000373314   ⟹   ENSP00000362411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,505,339 - 127,578,989 (-)Ensembl
RefSeq Acc Id: ENST00000465154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,509,888 - 127,516,893 (-)Ensembl
RefSeq Acc Id: ENST00000468379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,507,172 - 127,568,953 (-)Ensembl
RefSeq Acc Id: ENST00000476091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,524,806 - 127,527,221 (-)Ensembl
RefSeq Acc Id: ENST00000478917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,505,343 - 127,568,885 (-)Ensembl
RefSeq Acc Id: ENST00000484348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,507,184 - 127,569,076 (-)Ensembl
RefSeq Acc Id: NM_001035534   ⟹   NP_001030611
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,505,343 - 127,579,031 (-)NCBI
GRCh379130,267,618 - 130,341,268 (-)RGD
GRCh379130,267,618 - 130,341,268 (-)NCBI
Build 369129,307,439 - 129,381,089 (-)NCBI Archive
Celera9100,918,505 - 100,992,132 (-)RGD
HuRef999,883,552 - 99,957,434 (-)NCBI
CHM1_19130,418,920 - 130,492,479 (-)NCBI
T2T-CHM13v2.09139,712,305 - 139,786,022 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022833   ⟹   NP_073744
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,505,343 - 127,569,073 (-)NCBI
GRCh379130,267,618 - 130,341,268 (-)RGD
Build 369129,307,439 - 129,371,176 (-)NCBI Archive
Celera9100,918,505 - 100,992,132 (-)RGD
HuRef999,883,552 - 99,957,434 (-)NCBI
CHM1_19130,418,920 - 130,445,318 (-)NCBI
T2T-CHM13v2.09139,712,305 - 139,776,066 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252135   ⟹   XP_005252192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,505,343 - 127,561,909 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518925   ⟹   XP_011517227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,505,343 - 127,569,073 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001030611   ⟸   NM_001035534
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_073744   ⟸   NM_022833
- Peptide Label: isoform 1
- UniProtKB: Q9BUS2 (UniProtKB/Swiss-Prot),   Q5VVW7 (UniProtKB/Swiss-Prot),   Q5VVW6 (UniProtKB/Swiss-Prot),   Q4LE55 (UniProtKB/Swiss-Prot),   Q9NT35 (UniProtKB/Swiss-Prot),   Q96TA1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252192   ⟸   XM_005252135
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011517227   ⟸   XM_011518925
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000362409   ⟸   ENST00000373312
RefSeq Acc Id: ENSP00000362411   ⟸   ENST00000373314
Protein Domains
PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96TA1-F1-model_v2 AlphaFold Q96TA1 1-746 view protein structure

Promoters
RGD ID:7216183
Promoter ID:EPDNEW_H13838
Type:initiation region
Name:FAM129B_1
Description:family with sequence similarity 129 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13839  EPDNEW_H13848  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,569,068 - 127,569,128EPDNEW
RGD ID:7216191
Promoter ID:EPDNEW_H13839
Type:initiation region
Name:FAM129B_2
Description:family with sequence similarity 129 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13838  EPDNEW_H13848  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,579,031 - 127,579,091EPDNEW
RGD ID:6807673
Promoter ID:HG_KWN:65021
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054199
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,319,076 - 129,319,877 (-)MPROMDB
RGD ID:6807672
Promoter ID:HG_KWN:65022
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054198
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,329,026 - 129,329,977 (-)MPROMDB
RGD ID:6813615
Promoter ID:HG_ACW:82486
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:FAM129B.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,370,144 - 129,370,644 (-)MPROMDB
RGD ID:6807674
Promoter ID:HG_KWN:65023
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:ENST00000373312,   OTTHUMT00000054193,   OTTHUMT00000054194,   OTTHUMT00000054197,   UC004BRJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,371,011 - 129,371,977 (-)MPROMDB
RGD ID:6807671
Promoter ID:HG_KWN:65024
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_001035534
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,380,951 - 129,381,451 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25282 AgrOrtholog
COSMIC NIBAN2 COSMIC
Ensembl Genes ENSG00000136830 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373312 ENTREZGENE
  ENST00000373312.4 UniProtKB/Swiss-Prot
  ENST00000373314 ENTREZGENE
  ENST00000373314.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000136830 GTEx
HGNC ID HGNC:25282 ENTREZGENE
Human Proteome Map NIBAN2 Human Proteome Map
InterPro Niban-like UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PH_domain UniProtKB/Swiss-Prot
KEGG Report hsa:64855 UniProtKB/Swiss-Prot
NCBI Gene 64855 ENTREZGENE
OMIM 614045 OMIM
PANTHER PROTEIN NIBAN 2 UniProtKB/Swiss-Prot
  PTHR14392 UniProtKB/Swiss-Prot
PharmGKB PA162385984 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
UniProt NIBL1_HUMAN UniProtKB/Swiss-Prot
  Q4LE55 ENTREZGENE
  Q5VVW6 ENTREZGENE
  Q5VVW7 ENTREZGENE
  Q96TA1 ENTREZGENE
  Q9BUS2 ENTREZGENE
  Q9NT35 ENTREZGENE
UniProt Secondary Q4LE55 UniProtKB/Swiss-Prot
  Q5VVW6 UniProtKB/Swiss-Prot
  Q5VVW7 UniProtKB/Swiss-Prot
  Q9BUS2 UniProtKB/Swiss-Prot
  Q9NT35 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-23 NIBAN2  niban apoptosis regulator 2  FAM129B  family with sequence similarity 129 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM129B  family with sequence similarity 129 member B    family with sequence similarity 129, member B  Symbol and/or name change 5135510 APPROVED