ANXA13 (annexin A13) - Rat Genome Database

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Gene: ANXA13 (annexin A13) Homo sapiens
Analyze
Symbol: ANXA13
Name: annexin A13
RGD ID: 1316801
HGNC Page HGNC:536
Description: Enables calcium ion binding activity and phospholipid binding activity. Predicted to be involved in negative regulation of Golgi to plasma membrane protein transport and positive regulation of Golgi to plasma membrane protein transport. Located in nucleoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: annexin XIII; annexin, intestine-specific; annexin-13; ANX13; intestine-specific annexin; ISA; MGC150460
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
GRCh388123,680,794 - 123,737,393 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8123,680,794 - 123,737,402 (-)EnsemblGRCh38hg38GRCh38
GRCh378124,693,034 - 124,749,633 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,762,215 - 124,818,828 (-)NCBINCBI36Build 36hg18NCBI36
Build 348124,762,215 - 124,818,828NCBI
Celera8120,881,263 - 120,937,857 (-)NCBICelera
Cytogenetic Map8q24.13NCBI
HuRef8120,019,544 - 120,076,140 (-)NCBIHuRef
CHM1_18124,733,266 - 124,789,887 (-)NCBICHM1_1
T2T-CHM13v2.08124,813,022 - 124,869,625 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1530946   PMID:8125298   PMID:9503022   PMID:10737800   PMID:10871286   PMID:11581287   PMID:11961095   PMID:12477932   PMID:14718574   PMID:15813707   PMID:18029348   PMID:19056867  
PMID:20701074   PMID:21184583   PMID:21873635   PMID:22219177   PMID:22664934   PMID:23376485   PMID:26110394   PMID:26186194   PMID:27676605   PMID:28423508   PMID:28514442   PMID:30610115  
PMID:31586073   PMID:33119820   PMID:33961781  


Genomics

Comparative Map Data
ANXA13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388123,680,794 - 123,737,393 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8123,680,794 - 123,737,402 (-)EnsemblGRCh38hg38GRCh38
GRCh378124,693,034 - 124,749,633 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,762,215 - 124,818,828 (-)NCBINCBI36Build 36hg18NCBI36
Build 348124,762,215 - 124,818,828NCBI
Celera8120,881,263 - 120,937,857 (-)NCBICelera
Cytogenetic Map8q24.13NCBI
HuRef8120,019,544 - 120,076,140 (-)NCBIHuRef
CHM1_18124,733,266 - 124,789,887 (-)NCBICHM1_1
T2T-CHM13v2.08124,813,022 - 124,869,625 (-)NCBIT2T-CHM13v2.0
Anxa13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,204,860 - 58,261,123 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1558,204,867 - 58,261,093 (-)EnsemblGRCm39 Ensembl
GRCm381558,341,464 - 58,389,274 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,341,363 - 58,389,383 (-)EnsemblGRCm38mm10GRCm38
MGSCv371558,173,019 - 58,220,829 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361558,171,547 - 58,219,357 (-)NCBIMGSCv36mm8
Celera1559,861,628 - 59,917,546 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1524.66NCBI
Anxa13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8791,773,844 - 91,826,386 (-)NCBIGRCr8
mRatBN7.2789,884,356 - 89,936,907 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl789,884,356 - 89,936,907 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx791,766,853 - 91,819,484 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0793,968,128 - 94,020,754 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0793,792,322 - 93,844,871 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0798,217,642 - 98,270,442 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl798,217,642 - 98,270,110 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0798,819,726 - 98,871,641 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,071,045 - 95,123,201 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1795,105,531 - 95,159,085 (-)NCBI
Celera786,653,899 - 86,706,292 (-)NCBICelera
Cytogenetic Map7q33NCBI
Anxa13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,481,199 - 2,533,976 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,482,499 - 2,561,569 (-)NCBIChiLan1.0ChiLan1.0
ANXA13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27141,112,885 - 141,169,862 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18116,624,060 - 116,681,086 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08120,376,019 - 120,423,509 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18123,131,305 - 123,167,399 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8123,131,751 - 123,187,952 (-)Ensemblpanpan1.1panPan2
ANXA13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,960,439 - 22,010,660 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,960,439 - 22,010,604 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,926,198 - 21,976,304 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01322,302,080 - 22,352,294 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1322,302,080 - 22,352,766 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11322,028,888 - 22,078,969 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01322,132,767 - 22,182,895 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01322,374,817 - 22,424,925 (-)NCBIUU_Cfam_GSD_1.0
Anxa13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,284,490 - 16,337,172 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647023,731,768 - 23,762,903 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647023,710,710 - 23,763,183 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANXA13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,707,607 - 15,766,629 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,707,576 - 15,765,934 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,450,337 - 16,486,055 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANXA13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18118,253,674 - 118,312,668 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8118,253,506 - 118,311,947 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603921,898,946 - 21,958,140 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Anxa13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473531,296,211 - 31,342,624 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473531,296,279 - 31,342,220 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANXA13
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21		 pathogenic
NM_001003954.1(ANXA13):c.209G>A (p.Gly70Glu) single nucleotide variant Malignant melanoma [RCV000068141] Chr8:123712683 [GRCh38]
Chr8:124724923 [GRCh37]
Chr8:124794104 [NCBI36]
Chr8:8q24.13		 not provided
NM_001003954.1(ANXA13):c.77C>T (p.Ser26Leu) single nucleotide variant Malignant melanoma [RCV000061746] Chr8:123735816 [GRCh38]
Chr8:124748056 [GRCh37]
Chr8:124817237 [NCBI36]
Chr8:8q24.13		 not provided
NM_001003954.1(ANXA13):c.139-1344C>A single nucleotide variant Lung cancer [RCV000107005] Chr8:123714097 [GRCh38]
Chr8:124726337 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:124443708-125305582)x1 copy number loss not provided [RCV000848210] Chr8:124443708..125305582 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_004306.4(ANXA13):c.239C>T (p.Ala80Val) single nucleotide variant not specified [RCV004316678] Chr8:123698507 [GRCh38]
Chr8:124710747 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.181G>A (p.Gly61Ser) single nucleotide variant not specified [RCV004300597] Chr8:123702647 [GRCh38]
Chr8:124714887 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_124515613)_(126379127_?)dup duplication not provided [RCV003113842] Chr8:124515613..126379127 [GRCh37]
Chr8:8q24.13		 uncertain significance
NC_000008.10:g.(?_124545411)_(125559374_?)dup duplication not provided [RCV003116289] Chr8:124545411..125559374 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_004306.4(ANXA13):c.691G>A (p.Asp231Asn) single nucleotide variant not specified [RCV004220562] Chr8:123688898 [GRCh38]
Chr8:124701138 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.590T>G (p.Leu197Arg) single nucleotide variant not specified [RCV004109251] Chr8:123693249 [GRCh38]
Chr8:124705489 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.128G>T (p.Gly43Val) single nucleotide variant not specified [RCV004150951] Chr8:123702700 [GRCh38]
Chr8:124714940 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.265G>A (p.Glu89Lys) single nucleotide variant not specified [RCV004206309] Chr8:123698481 [GRCh38]
Chr8:124710721 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.590T>C (p.Leu197Pro) single nucleotide variant not specified [RCV004185500] Chr8:123693249 [GRCh38]
Chr8:124705489 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.938C>T (p.Ala313Val) single nucleotide variant not specified [RCV004215660] Chr8:123681253 [GRCh38]
Chr8:124693493 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.356A>C (p.Lys119Thr) single nucleotide variant not specified [RCV004167230] Chr8:123698390 [GRCh38]
Chr8:124710630 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.296T>C (p.Met99Thr) single nucleotide variant not specified [RCV004157268] Chr8:123698450 [GRCh38]
Chr8:124710690 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.77C>T (p.Ala26Val) single nucleotide variant not specified [RCV004168476] Chr8:123712692 [GRCh38]
Chr8:124724932 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1529C>A single nucleotide variant not specified [RCV004163541] Chr8:123735791 [GRCh38]
Chr8:124748031 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1537G>A single nucleotide variant not specified [RCV004238624] Chr8:123735783 [GRCh38]
Chr8:124748023 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.532C>A (p.Leu178Met) single nucleotide variant not specified [RCV004093688] Chr8:123693719 [GRCh38]
Chr8:124705959 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1543G>C single nucleotide variant not specified [RCV004083059] Chr8:123735777 [GRCh38]
Chr8:124748017 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.202C>T (p.Leu68Phe) single nucleotide variant not specified [RCV004275912] Chr8:123698544 [GRCh38]
Chr8:124710784 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.581A>G (p.Asn194Ser) single nucleotide variant not specified [RCV004285229] Chr8:123693258 [GRCh38]
Chr8:124705498 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1518C>A single nucleotide variant not specified [RCV004272818] Chr8:123735802 [GRCh38]
Chr8:124748042 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.409G>A (p.Glu137Lys) single nucleotide variant not specified [RCV004249668] Chr8:123695564 [GRCh38]
Chr8:124707804 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.379G>A (p.Ala127Thr) single nucleotide variant not specified [RCV004331793] Chr8:123695700 [GRCh38]
Chr8:124707940 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.876G>T (p.Gln292His) single nucleotide variant not specified [RCV004323398] Chr8:123681315 [GRCh38]
Chr8:124693555 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 copy number loss Exostoses, multiple, type 1 [RCV003329505] Chr8:118185471..126635744 [GRCh37]
Chr8:8q24.11-24.13		 pathogenic
NM_004306.4(ANXA13):c.15+1546A>T single nucleotide variant not specified [RCV004361496] Chr8:123735774 [GRCh38]
Chr8:124748014 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1536C>T single nucleotide variant not specified [RCV004361533] Chr8:123735784 [GRCh38]
Chr8:124748024 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1477A>C single nucleotide variant not specified [RCV004363370] Chr8:123735843 [GRCh38]
Chr8:124748083 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4 copy number gain Distal trisomy 8q [RCV003458956] Chr8:124534271..129054138 [GRCh37]
Chr8:8q24.13-24.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
NM_004306.4(ANXA13):c.890A>C (p.Asp297Ala) single nucleotide variant not specified [RCV004424619] Chr8:123681301 [GRCh38]
Chr8:124693541 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.15+1476C>A single nucleotide variant not specified [RCV004424621] Chr8:123735844 [GRCh38]
Chr8:124748084 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_004306.4(ANXA13):c.430A>T (p.Thr144Ser) single nucleotide variant not specified [RCV004424622] Chr8:123695543 [GRCh38]
Chr8:124707783 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_004306.4(ANXA13):c.209G>A (p.Ser70Asn) single nucleotide variant not specified [RCV004424620] Chr8:123698537 [GRCh38]
Chr8:124710777 [GRCh37]
Chr8:8q24.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:828
Count of miRNA genes:533
Interacting mature miRNAs:583
Transcripts:ENST00000262219, ENST00000419625, ENST00000519045, ENST00000520519, ENST00000520591, ENST00000523822
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
SHGC-68785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,711,023 - 124,711,277UniSTSGRCh37
Build 368124,780,204 - 124,780,458RGDNCBI36
Celera8120,899,252 - 120,899,506RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,037,537 - 120,037,791UniSTS
TNG Radiation Hybrid Map860149.0UniSTS
SHGC-104642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,705,738 - 124,706,025UniSTSGRCh37
Build 368124,774,919 - 124,775,206RGDNCBI36
Celera8120,893,967 - 120,894,254RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,032,253 - 120,032,540UniSTS
D8S2044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,743,234 - 124,743,358UniSTSGRCh37
Build 368124,812,415 - 124,812,539RGDNCBI36
Celera8120,931,443 - 120,931,567RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,069,727 - 120,069,851UniSTS
D8S1979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,693,070 - 124,693,397UniSTSGRCh37
Build 368124,762,251 - 124,762,578RGDNCBI36
Celera8120,881,299 - 120,881,626RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,019,580 - 120,019,907UniSTS
GeneMap99-GB4 RH Map8477.8UniSTS
Whitehead-RH Map8641.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map83900.0UniSTS


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 371 77 77 125 78 2 28 90 42 14
Low 1669 10 330 325 66 319 282 801 632 177 805 64 7 119 218
Below cutoff 359 1662 669 188 396 58 3028 784 2622 87 494 738 141 817 1931 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001003954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI678696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ306450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW296908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW854063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG823061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262219   ⟹   ENSP00000262219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8123,680,794 - 123,737,402 (-)Ensembl
RefSeq Acc Id: ENST00000419625   ⟹   ENSP00000390809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8123,680,794 - 123,737,393 (-)Ensembl
RefSeq Acc Id: ENST00000519045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8123,728,270 - 123,729,250 (-)Ensembl
RefSeq Acc Id: ENST00000520519   ⟹   ENSP00000429358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8123,695,547 - 123,729,248 (-)Ensembl
RefSeq Acc Id: ENST00000520591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8123,712,709 - 123,727,923 (-)Ensembl
RefSeq Acc Id: ENST00000523822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8123,711,633 - 123,728,511 (-)Ensembl
RefSeq Acc Id: NM_001003954   ⟹   NP_001003954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,680,794 - 123,737,393 (-)NCBI
GRCh378124,693,034 - 124,749,647 (-)RGD
Build 368124,762,215 - 124,818,828 (-)NCBI Archive
Celera8120,881,263 - 120,937,857 (-)RGD
HuRef8120,019,544 - 120,076,140 (-)RGD
CHM1_18124,733,266 - 124,789,905 (-)NCBI
T2T-CHM13v2.08124,813,022 - 124,869,625 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004306   ⟹   NP_004297
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,680,794 - 123,737,393 (-)NCBI
GRCh378124,693,034 - 124,749,647 (-)RGD
Build 368124,762,215 - 124,818,828 (-)NCBI Archive
Celera8120,881,263 - 120,937,857 (-)RGD
HuRef8120,019,544 - 120,076,140 (-)RGD
CHM1_18124,733,266 - 124,789,905 (-)NCBI
T2T-CHM13v2.08124,813,022 - 124,869,625 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004297   ⟸   NM_004306
- Peptide Label: isoform a
- UniProtKB: Q9BQR5 (UniProtKB/Swiss-Prot),   P27216 (UniProtKB/Swiss-Prot),   Q53FB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001003954   ⟸   NM_001003954
- Peptide Label: isoform b
- UniProtKB: A8K2L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429358   ⟸   ENST00000520519
RefSeq Acc Id: ENSP00000390809   ⟸   ENST00000419625
RefSeq Acc Id: ENSP00000262219   ⟸   ENST00000262219

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27216-F1-model_v2 AlphaFold P27216 1-316 view protein structure

Promoters
RGD ID:7214137
Promoter ID:EPDNEW_H12815
Type:initiation region
Name:ANXA13_1
Description:annexin A13
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
GRCh388123,737,393 - 123,737,453EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:536 AgrOrtholog
COSMIC ANXA13 COSMIC
Ensembl Genes ENSG00000104537 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262219 ENTREZGENE
  ENST00000262219.10 UniProtKB/Swiss-Prot
  ENST00000419625 ENTREZGENE
  ENST00000419625.6 UniProtKB/Swiss-Prot
  ENST00000520519.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.220.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104537 GTEx
HGNC ID HGNC:536 ENTREZGENE
Human Proteome Map ANXA13 Human Proteome Map
InterPro Annexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Annexin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Annexin_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Annexin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANX13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 312 ENTREZGENE
OMIM 602573 OMIM
PANTHER ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANNEXIN A13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Annexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24826 PharmGKB
PRINTS ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANNEXINXIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANNEXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K2L6 ENTREZGENE, UniProtKB/TrEMBL
  ANX13_HUMAN UniProtKB/Swiss-Prot
  E5RIN3_HUMAN UniProtKB/TrEMBL
  P27216 ENTREZGENE
  Q53FB5 ENTREZGENE, UniProtKB/TrEMBL
  Q6FHB6_HUMAN UniProtKB/TrEMBL
  Q9BQR5 ENTREZGENE
UniProt Secondary Q9BQR5 UniProtKB/Swiss-Prot