CIAPIN1 (cytokine induced apoptosis inhibitor 1) - Rat Genome Database

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Gene: CIAPIN1 (cytokine induced apoptosis inhibitor 1) Homo sapiens
Analyze
Symbol: CIAPIN1
Name: cytokine induced apoptosis inhibitor 1
RGD ID: 1346049
HGNC Page HGNC:28050
Description: Enables 2 iron, 2 sulfur cluster binding activity and iron ion binding activity. Predicted to be involved in iron-sulfur cluster assembly and negative regulation of apoptotic process. Predicted to act upstream of or within hemopoiesis. Located in mitochondrion; nucleolus; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2810413N20Rik; anamorsin; CIAE2; cytokine-induced apoptosis inhibitor 1; DRE2; fe-S cluster assembly protein DRE2 homolog; predicted protein of HQ0915; PRO0915
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CIAPIN1P   LOC390600  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,428,187 - 57,447,385 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,428,187 - 57,447,420 (-)EnsemblGRCh38hg38GRCh38
GRCh371657,462,099 - 57,481,297 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,019,587 - 56,038,870 (-)NCBINCBI36Build 36hg18NCBI36
Build 341656,019,581 - 56,032,341NCBI
Celera1641,962,936 - 41,982,221 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,329,733 - 43,349,016 (-)NCBIHuRef
CHM1_11658,870,146 - 58,889,429 (-)NCBICHM1_1
T2T-CHM13v2.01663,223,362 - 63,242,561 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA,ISS)
mitochondrial intermembrane space  (IEA)
mitochondrion  (IDA,IEA)
nucleolus  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10493829   PMID:11076863   PMID:11230166   PMID:12477932   PMID:14970183   PMID:15489334   PMID:15489336   PMID:16189514   PMID:16381901   PMID:16410721   PMID:16957168   PMID:17935775  
PMID:18029348   PMID:18059532   PMID:18203020   PMID:18293492   PMID:18299278   PMID:18389626   PMID:18625724   PMID:19081179   PMID:19194512   PMID:20411424   PMID:20802492   PMID:20815902  
PMID:21219862   PMID:21516116   PMID:21700214   PMID:21729524   PMID:21873635   PMID:21900206   PMID:22677939   PMID:22713669   PMID:22863883   PMID:22939629   PMID:23151078   PMID:23596212  
PMID:23989406   PMID:24123282   PMID:24676475   PMID:24973211   PMID:24999758   PMID:25043809   PMID:25416956   PMID:25468996   PMID:25724898   PMID:25796446   PMID:25889687   PMID:25901506  
PMID:26186194   PMID:26302480   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27519415   PMID:27644154   PMID:28514442   PMID:28648056   PMID:28718761   PMID:29892012   PMID:30637589  
PMID:31093311   PMID:31515488   PMID:31732153   PMID:31762063   PMID:32296183   PMID:32416067   PMID:32687490   PMID:32963011   PMID:33916271   PMID:33961781   PMID:34189442   PMID:34226595  
PMID:34597346   PMID:34672954   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35696571   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36232890   PMID:37059091  
PMID:37223481   PMID:37774976   PMID:37827155   PMID:38113892   PMID:38280479   PMID:39242716  


Genomics

Comparative Map Data
CIAPIN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,428,187 - 57,447,385 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,428,187 - 57,447,420 (-)EnsemblGRCh38hg38GRCh38
GRCh371657,462,099 - 57,481,297 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,019,587 - 56,038,870 (-)NCBINCBI36Build 36hg18NCBI36
Build 341656,019,581 - 56,032,341NCBI
Celera1641,962,936 - 41,982,221 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,329,733 - 43,349,016 (-)NCBIHuRef
CHM1_11658,870,146 - 58,889,429 (-)NCBICHM1_1
T2T-CHM13v2.01663,223,362 - 63,242,561 (-)NCBIT2T-CHM13v2.0
Ciapin1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39895,546,446 - 95,565,454 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl895,546,432 - 95,564,986 (-)EnsemblGRCm39 Ensembl
GRCm38894,819,818 - 94,838,830 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,819,804 - 94,838,358 (-)EnsemblGRCm38mm10GRCm38
MGSCv37897,343,718 - 97,362,240 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36897,708,947 - 97,727,469 (-)NCBIMGSCv36mm8
Celera899,144,006 - 99,162,184 (-)NCBICelera
Cytogenetic Map8C5NCBI
cM Map846.86NCBI
Ciapin1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81910,185,955 - 10,199,120 (+)NCBIGRCr8
mRatBN7.21910,179,963 - 10,195,511 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1910,180,100 - 10,195,503 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1910,144,184 - 10,157,188 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01910,911,028 - 10,924,032 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01910,197,976 - 10,210,981 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01910,596,923 - 10,612,414 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1910,596,960 - 10,610,049 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01910,591,726 - 10,607,111 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41910,619,171 - 10,632,187 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1910,066,716 - 10,079,509 (+)NCBICelera
Cytogenetic Map19p13NCBI
Ciapin1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543315,065,031 - 15,081,293 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543315,065,031 - 15,081,392 (-)NCBIChiLan1.0ChiLan1.0
CIAPIN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21866,896,003 - 66,917,703 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11672,816,823 - 72,838,576 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01637,701,773 - 37,723,556 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11656,835,024 - 56,856,502 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1656,835,024 - 56,856,502 (-)Ensemblpanpan1.1panPan2
CIAPIN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1258,977,592 - 58,992,785 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl258,977,676 - 58,992,581 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha255,607,027 - 55,622,240 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0259,516,013 - 59,531,188 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl259,516,048 - 59,531,834 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1256,347,304 - 56,362,485 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0257,355,010 - 57,370,223 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,248,470 - 58,263,682 (+)NCBIUU_Cfam_GSD_1.0
Ciapin1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934950,086,413 - 50,103,861 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364759,485,214 - 9,502,619 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIAPIN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl619,356,069 - 19,373,060 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1619,356,065 - 19,373,085 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2617,323,846 - 17,335,336 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CIAPIN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1543,360,465 - 43,378,561 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl543,359,399 - 43,378,686 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604732,840,525 - 32,858,606 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ciapin1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474628,630,774 - 28,647,182 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474628,630,662 - 28,647,182 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIAPIN1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21(chr16:57475008-57513598)x1 copy number loss See cases [RCV000448449] Chr16:57475008..57513598 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_020313.4(CIAPIN1):c.529T>C (p.Ser177Pro) single nucleotide variant not specified [RCV004317660] Chr16:57434071 [GRCh38]
Chr16:57467983 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21		 uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
NM_020313.4(CIAPIN1):c.-56+253C>T single nucleotide variant not provided [RCV001556477] Chr16:57447089 [GRCh38]
Chr16:57481001 [GRCh37]
Chr16:16q21		 likely benign
NM_020313.4(CIAPIN1):c.-56+16G>T single nucleotide variant not provided [RCV001612073] Chr16:57447326 [GRCh38]
Chr16:57481238 [GRCh37]
Chr16:16q21		 benign
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1 copy number loss not provided [RCV001259855] Chr16:57292407..59103985 [GRCh37]
Chr16:16q13-21		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21		 pathogenic
NC_000016.9:g.(?_57016057)_(58768132_?)del deletion not provided [RCV003122679] Chr16:57016057..58768132 [GRCh37]
Chr16:16q13-21		 pathogenic
NM_020313.4(CIAPIN1):c.412G>C (p.Glu138Gln) single nucleotide variant not specified [RCV004220927] Chr16:57434188 [GRCh38]
Chr16:57468100 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.304G>A (p.Ala102Thr) single nucleotide variant not specified [RCV004142220] Chr16:57439188 [GRCh38]
Chr16:57473100 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.350C>T (p.Ser117Leu) single nucleotide variant not specified [RCV004087294] Chr16:57436693 [GRCh38]
Chr16:57470605 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.44T>C (p.Val15Ala) single nucleotide variant not specified [RCV004207186] Chr16:57440885 [GRCh38]
Chr16:57474797 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.313A>G (p.Asn105Asp) single nucleotide variant not specified [RCV004181963] Chr16:57436730 [GRCh38]
Chr16:57470642 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.140T>C (p.Ile47Thr) single nucleotide variant not specified [RCV004324180] Chr16:57440789 [GRCh38]
Chr16:57474701 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.253C>T (p.Arg85Trp) single nucleotide variant not specified [RCV004335542] Chr16:57439239 [GRCh38]
Chr16:57473151 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_020313.4(CIAPIN1):c.881C>A (p.Pro294Gln) single nucleotide variant not specified [RCV004441757] Chr16:57429228 [GRCh38]
Chr16:57463140 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.107C>T (p.Thr36Ile) single nucleotide variant not specified [RCV004441752] Chr16:57440822 [GRCh38]
Chr16:57474734 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.334G>A (p.Ala112Thr) single nucleotide variant not specified [RCV004441755] Chr16:57436709 [GRCh38]
Chr16:57470621 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.215C>T (p.Thr72Ile) single nucleotide variant not specified [RCV004441753] Chr16:57439277 [GRCh38]
Chr16:57473189 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.427G>A (p.Val143Ile) single nucleotide variant not specified [RCV004610637] Chr16:57434173 [GRCh38]
Chr16:57468085 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_020313.4(CIAPIN1):c.643T>C (p.Ser215Pro) single nucleotide variant not specified [RCV004610639] Chr16:57431254 [GRCh38]
Chr16:57465166 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.893C>G (p.Pro298Arg) single nucleotide variant not specified [RCV004610638] Chr16:57429216 [GRCh38]
Chr16:57463128 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.766G>C (p.Glu256Gln) single nucleotide variant not specified [RCV004441756] Chr16:57430320 [GRCh38]
Chr16:57464232 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
Single allele deletion not provided [RCV002266766] Chr16:53818483..57631312 [GRCh38]
Chr16:16q12.2-21		 pathogenic
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_020313.4(CIAPIN1):c.617A>C (p.Glu206Ala) single nucleotide variant not specified [RCV004100234] Chr16:57432500 [GRCh38]
Chr16:57466412 [GRCh37]
Chr16:16q21		 uncertain significance
NM_020313.4(CIAPIN1):c.233A>C (p.Glu78Ala) single nucleotide variant not specified [RCV004441754] Chr16:57439259 [GRCh38]
Chr16:57473171 [GRCh37]
Chr16:16q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3998
Count of miRNA genes:982
Interacting mature miRNAs:1156
Transcripts:ENST00000394391, ENST00000563341, ENST00000563561, ENST00000564885, ENST00000565368, ENST00000565786, ENST00000565961, ENST00000566284, ENST00000567518, ENST00000567751, ENST00000568940, ENST00000569246, ENST00000569370, ENST00000569979, ENST00000570000
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407082054GWAS731030_Hblood protein measurement QTL GWAS731030 (human)2e-21blood protein measurementblood protein measurement (CMO:0000028)165743665257436653Human
407081508GWAS730484_Hblood protein measurement QTL GWAS730484 (human)4e-29blood protein measurementblood protein measurement (CMO:0000028)165743665257436653Human
407212415GWAS861391_Hblood protein measurement QTL GWAS861391 (human)9e-21blood protein measurementblood protein measurement (CMO:0000028)165744077557440776Human
407082045GWAS731021_Hblood protein measurement QTL GWAS731021 (human)8e-29blood protein measurementblood protein measurement (CMO:0000028)165743665257436653Human
407081501GWAS730477_Hblood protein measurement QTL GWAS730477 (human)1e-46blood protein measurementblood protein measurement (CMO:0000028)165744077557440776Human

Markers in Region
A007G23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371824,181,015 - 24,181,232UniSTSGRCh37
GRCh371657,462,158 - 57,462,375UniSTSGRCh37
Build 361656,019,659 - 56,019,876RGDNCBI36
Celera1820,991,656 - 20,991,873UniSTS
Celera1641,963,008 - 41,963,225RGD
Cytogenetic Map16q21UniSTS
Cytogenetic Map18q11.2UniSTS
HuRef1821,031,067 - 21,031,284UniSTS
HuRef1643,329,805 - 43,330,022UniSTS
GeneMap99-GB4 RH Map18216.91UniSTS
SHGC-61194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,462,183 - 57,462,303UniSTSGRCh37
Build 361656,019,684 - 56,019,804RGDNCBI36
Celera1641,963,033 - 41,963,153RGD
Cytogenetic Map16q21UniSTS
HuRef1643,329,830 - 43,329,950UniSTS
GeneMap99-GB4 RH Map16365.8UniSTS
IB525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371824,180,676 - 24,180,871UniSTSGRCh37
GRCh371657,462,519 - 57,462,714UniSTSGRCh37
Build 361656,020,020 - 56,020,215RGDNCBI36
Celera1820,991,317 - 20,991,512UniSTS
Celera1641,963,369 - 41,963,564RGD
Cytogenetic Map16q21UniSTS
Cytogenetic Map18q11.2UniSTS
HuRef1821,030,728 - 21,030,923UniSTS
HuRef1643,330,166 - 43,330,361UniSTS
GeneMap99-GB4 RH Map18184.01UniSTS
NCBI RH Map18324.9UniSTS
RH11736  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q21UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF248964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG746807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ991015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA443135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000394391   ⟹   ENSP00000377914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,428,187 - 57,447,385 (-)Ensembl
Ensembl Acc Id: ENST00000563341   ⟹   ENSP00000455572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,436,656 - 57,447,377 (-)Ensembl
Ensembl Acc Id: ENST00000563561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,433,648 - 57,439,213 (-)Ensembl
Ensembl Acc Id: ENST00000564885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,429,177 - 57,430,646 (-)Ensembl
Ensembl Acc Id: ENST00000565368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,431,317 - 57,447,377 (-)Ensembl
Ensembl Acc Id: ENST00000565786   ⟹   ENSP00000457318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,430,328 - 57,447,420 (-)Ensembl
Ensembl Acc Id: ENST00000565961   ⟹   ENSP00000455309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,428,218 - 57,447,406 (-)Ensembl
Ensembl Acc Id: ENST00000566284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,433,910 - 57,441,403 (-)Ensembl
Ensembl Acc Id: ENST00000567518   ⟹   ENSP00000456114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,428,187 - 57,447,419 (-)Ensembl
Ensembl Acc Id: ENST00000567751   ⟹   ENSP00000457400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,430,258 - 57,447,366 (-)Ensembl
Ensembl Acc Id: ENST00000568940   ⟹   ENSP00000454480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,428,938 - 57,447,368 (-)Ensembl
Ensembl Acc Id: ENST00000569246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,431,196 - 57,440,933 (-)Ensembl
Ensembl Acc Id: ENST00000569370   ⟹   ENSP00000457042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,428,554 - 57,447,406 (-)Ensembl
Ensembl Acc Id: ENST00000569979   ⟹   ENSP00000458000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,429,062 - 57,440,975 (-)Ensembl
Ensembl Acc Id: ENST00000570000   ⟹   ENSP00000457622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1657,429,099 - 57,440,986 (-)Ensembl
RefSeq Acc Id: NM_001308347   ⟹   NP_001295276
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,428,187 - 57,447,385 (-)NCBI
CHM1_11658,870,141 - 58,889,500 (-)NCBI
T2T-CHM13v2.01663,223,362 - 63,242,561 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308358   ⟹   NP_001295287
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,428,187 - 57,447,385 (-)NCBI
CHM1_11658,870,141 - 58,889,500 (-)NCBI
T2T-CHM13v2.01663,223,362 - 63,242,561 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020313   ⟹   NP_064709
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,428,187 - 57,447,385 (-)NCBI
GRCh371657,462,081 - 57,481,439 (-)NCBI
Build 361656,019,587 - 56,038,870 (-)NCBI Archive
HuRef1643,329,733 - 43,349,016 (-)ENTREZGENE
CHM1_11658,870,141 - 58,889,500 (-)NCBI
T2T-CHM13v2.01663,223,362 - 63,242,561 (-)NCBI
Sequence:
RefSeq Acc Id: NP_064709   ⟸   NM_020313
- Peptide Label: isoform 1
- UniProtKB: Q9H0W1 (UniProtKB/Swiss-Prot),   O75207 (UniProtKB/Swiss-Prot),   O75206 (UniProtKB/Swiss-Prot),   A8K8B6 (UniProtKB/Swiss-Prot),   Q9P1L7 (UniProtKB/Swiss-Prot),   Q6FI81 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295276   ⟸   NM_001308347
- Peptide Label: isoform 2
- UniProtKB: Q6FI81 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295287   ⟸   NM_001308358
- Peptide Label: isoform 3
- UniProtKB: H3BT65 (UniProtKB/TrEMBL),   H3BPG7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000458000   ⟸   ENST00000569979
Ensembl Acc Id: ENSP00000457622   ⟸   ENST00000570000
Ensembl Acc Id: ENSP00000455572   ⟸   ENST00000563341
Ensembl Acc Id: ENSP00000457318   ⟸   ENST00000565786
Ensembl Acc Id: ENSP00000377914   ⟸   ENST00000394391
Ensembl Acc Id: ENSP00000455309   ⟸   ENST00000565961
Ensembl Acc Id: ENSP00000457400   ⟸   ENST00000567751
Ensembl Acc Id: ENSP00000456114   ⟸   ENST00000567518
Ensembl Acc Id: ENSP00000454480   ⟸   ENST00000568940
Ensembl Acc Id: ENSP00000457042   ⟸   ENST00000569370
Protein Domains
Anamorsin C-terminal   Anamorsin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6FI81-F1-model_v2 AlphaFold Q6FI81 1-312 view protein structure

Promoters
RGD ID:6792966
Promoter ID:HG_KWN:23897
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356811,   OTTHUMT00000257332,   UC002ELM.1,   UC002ELN.1,   UC002ELO.1,   UC010CDA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361656,038,634 - 56,039,134 (-)MPROMDB
RGD ID:6850838
Promoter ID:EP73214
Type:initiation region
Name:HS_LOC57019
Description:Hypothetical protein LOC57019.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361656,038,779 - 56,038,839EPD
RGD ID:7232323
Promoter ID:EPDNEW_H21908
Type:initiation region
Name:CIAPIN1_1
Description:cytokine induced apoptosis inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381657,447,385 - 57,447,445EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28050 AgrOrtholog
COSMIC CIAPIN1 COSMIC
Ensembl Genes ENSG00000005194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000394391 ENTREZGENE
  ENST00000394391.9 UniProtKB/Swiss-Prot
  ENST00000563341.1 UniProtKB/TrEMBL
  ENST00000565786.5 UniProtKB/TrEMBL
  ENST00000565961.5 UniProtKB/TrEMBL
  ENST00000567518 ENTREZGENE
  ENST00000567518.5 UniProtKB/Swiss-Prot
  ENST00000567751.5 UniProtKB/TrEMBL
  ENST00000568940.5 UniProtKB/TrEMBL
  ENST00000569370 ENTREZGENE
  ENST00000569370.5 UniProtKB/TrEMBL
  ENST00000569979.5 UniProtKB/TrEMBL
  ENST00000570000.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000005194 GTEx
HGNC ID HGNC:28050 ENTREZGENE
Human Proteome Map CIAPIN1 Human Proteome Map
InterPro Anamorsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anamorsin_N_metazoan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CIAPIN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57019 UniProtKB/Swiss-Prot
NCBI Gene 57019 ENTREZGENE
OMIM 608943 OMIM
PANTHER ANAMORSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAMORSIN UniProtKB/TrEMBL
  PTHR13273 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Anamorsin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CIAPIN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134978864 PharmGKB
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K8B6 ENTREZGENE
  CPIN1_HUMAN UniProtKB/Swiss-Prot
  H3BPG7 ENTREZGENE, UniProtKB/TrEMBL
  H3BQ23_HUMAN UniProtKB/TrEMBL
  H3BT65 ENTREZGENE, UniProtKB/TrEMBL
  H3BTT4_HUMAN UniProtKB/TrEMBL
  H3BTZ8_HUMAN UniProtKB/TrEMBL
  H3BUG4_HUMAN UniProtKB/TrEMBL
  H3BV90_HUMAN UniProtKB/TrEMBL
  O75206 ENTREZGENE
  O75207 ENTREZGENE
  Q6FI81 ENTREZGENE
  Q9H0W1 ENTREZGENE
  Q9P1L7 ENTREZGENE
UniProt Secondary A8K8B6 UniProtKB/Swiss-Prot
  O75206 UniProtKB/Swiss-Prot
  O75207 UniProtKB/Swiss-Prot
  Q9H0W1 UniProtKB/Swiss-Prot
  Q9P1L7 UniProtKB/Swiss-Prot