ANXA8L1 (annexin A8 like 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: ANXA8L1 (annexin A8 like 1) Homo sapiens
Analyze
Symbol: ANXA8L1
Name: annexin A8 like 1
RGD ID: 1354199
HGNC Page HGNC:23334
Description: Enables several functions, including actin filament binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and phospholipid binding activity. Involved in endosomal transport and endosome organization. Located in cytosol; late endosome membrane; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: annexin A8-like 1; annexin A8-like 2; annexin A8-like protein 1; annexin A8-like protein 2; annexin A8L2; annexin VIII; annexin-8; ANXA8; ANXA8L2; bA145E20.2; bA301J7.3; VAC-beta; vascular anticoagulant-beta
RGD Orthologs
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [08 Apr 2014]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381046,375,776 - 46,391,778 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1046,375,627 - 46,391,784 (+)EnsemblGRCh38hg38GRCh38
GRCh371047,157,989 - 47,173,994 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361046,577,995 - 46,594,046 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map10q11.22NCBI
HuRef1043,018,070 - 43,029,978 (+)NCBIHuRef
CHM1_11047,227,356 - 47,243,237 (-)NCBICHM1_1
T2T-CHM13v2.01047,261,818 - 47,277,820 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1364010   PMID:2530088   PMID:8018923   PMID:8045287   PMID:8125298   PMID:11917092   PMID:12477932   PMID:14702039   PMID:15164054   PMID:15489334   PMID:15928709   PMID:16344560  
PMID:18223320   PMID:20360068   PMID:21044950   PMID:21800051   PMID:21873635   PMID:21988832   PMID:22898364   PMID:23376485   PMID:28514442   PMID:29117863   PMID:30021884   PMID:32344865  


Genomics

Comparative Map Data
ANXA8L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381046,375,776 - 46,391,778 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1046,375,627 - 46,391,784 (+)EnsemblGRCh38hg38GRCh38
GRCh371047,157,989 - 47,173,994 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361046,577,995 - 46,594,046 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map10q11.22NCBI
HuRef1043,018,070 - 43,029,978 (+)NCBIHuRef
CHM1_11047,227,356 - 47,243,237 (-)NCBICHM1_1
T2T-CHM13v2.01047,261,818 - 47,277,820 (+)NCBIT2T-CHM13v2.0
ANXA8L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1434,862,992 - 34,878,535 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha434,853,967 - 34,868,988 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0435,223,139 - 35,237,983 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1435,055,626 - 35,070,617 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0435,237,375 - 35,252,370 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0435,743,797 - 35,758,818 (-)NCBIUU_Cfam_GSD_1.0
ANXA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11488,319,209 - 88,340,716 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21495,804,110 - 95,826,657 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in ANXA8L1
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000050321] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050252] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050260] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47655146 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050288] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050301] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss Hearing impairment [RCV000050303]|See cases [RCV000050303] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47547651 [GRCh37]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050741] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133836] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47061001 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050303] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133669] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1 copy number loss See cases [RCV000134787] Chr10:46146977..46737090 [GRCh38]
Chr10:46609932..47323674 [GRCh37]
Chr10:46029938..46830487 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-46737090)x3 copy number gain See cases [RCV000138409] Chr10:46146977..46737090 [GRCh38]
Chr10:46550787..47323674 [GRCh37]
Chr10:45970793..46830487 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134855] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46404919..47238546 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134826] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47125064 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136435] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47702558 [GRCh37]
Chr10:46371268..47172564 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000135951] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404808..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136044] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000136045] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47590979 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000136063] Chr10:46146977..47987500 [GRCh38]
Chr10:45970793..47744290 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3 copy number gain See cases [RCV000137185] Chr10:46157935..48054380 [GRCh38]
Chr10:46609948..49262406 [GRCh37]
Chr10:46029954..48932412 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000137211] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768522 [GRCh37]
Chr10:46369261..47238528 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138840] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139320] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138910] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47060985 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139094] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47125064 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139485] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125064 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139516] Chr10:46157935..47923579 [GRCh38]
Chr10:46029938..47744290 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000139473] Chr10:46146977..47987500 [GRCh38]
Chr10:46550787..47929856 [GRCh37]
Chr10:45970793..47449862 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000141529] Chr10:46375049..47987500 [GRCh38]
Chr10:46949255..48364954 [GRCh37]
Chr10:46369261..47984960 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000142497] Chr10:46375049..47987500 [GRCh38]
Chr10:46371235..47744290 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000143045] Chr10:46375049..47987500 [GRCh38]
Chr10:47006954..47929856 [GRCh37]
Chr10:46371235..47449862 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000142911] Chr10:46157935..47923579 [GRCh38]
Chr10:46951229..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000142931] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47018978 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000148274] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148258] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148209] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148240] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148181] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000148189] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic|uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
Single allele duplication Normal pregnancy [RCV000161588]|Preeclampsia [RCV000161587] Chr10:47049547..47940417 [GRCh37]
Chr10:10q11.22		 not provided
Single allele duplication Gestational diabetes mellitus uncontrolled [RCV000161586] Chr10:46283686..47703869 [GRCh37]
Chr10:10q11.22		 not provided
GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1 copy number loss See cases [RCV000142492] Chr10:46146977..46737090 [GRCh38]
Chr10:46609932..47074919 [GRCh37]
Chr10:46029938..46494925 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1 copy number loss See cases [RCV000138474] Chr10:46146977..46737090 [GRCh38]
Chr10:46609932..47033418 [GRCh37]
Chr10:46029938..46453424 [NCBI36]
Chr10:10q11.22		 benign
GRCh38/hg38 10q11.22(chr10:46146977-46737090)x3 copy number gain See cases [RCV000133962] Chr10:46146977..46737090 [GRCh38]
Chr10:46550803..47323674 [GRCh37]
Chr10:45970809..46830459 [NCBI36]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:47013328-47703946)x3 copy number gain Premature ovarian failure [RCV000225349] Chr10:47013328..47703946 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22(chr10:46321377-49376720)x3 copy number gain See cases [RCV000447498] Chr10:46321377..49376720 [GRCh37]
Chr10:10q11.22		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22(chr10:47059392-48736754)x1 copy number loss not provided [RCV000683263] Chr10:47059392..48736754 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22(chr10:46109533-47662831)x3 copy number gain not provided [RCV000737095] Chr10:46109533..47662831 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:46109533-47695269)x3 copy number gain not provided [RCV000737096] Chr10:46109533..47695269 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:46109533-47940417)x3 copy number gain not provided [RCV000737097] Chr10:46109533..47940417 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:46122199-47756530)x3 copy number gain not provided [RCV000737098] Chr10:46122199..47756530 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:46283686-47696414)x3 copy number gain not provided [RCV000737101] Chr10:46283686..47696414 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:47049547-47940417)x3 copy number gain not provided [RCV000737102] Chr10:47049547..47940417 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.21-11.22(chr10:46052917-47940417)x3 copy number gain not provided [RCV000737092] Chr10:46052917..47940417 [GRCh37]
Chr10:10q11.21-11.22		 benign
GRCh37/hg19 10q11.21-11.22(chr10:46083500-47940417)x3 copy number gain not provided [RCV000737093] Chr10:46083500..47940417 [GRCh37]
Chr10:10q11.21-11.22		 benign
GRCh37/hg19 10q11.22(chr10:46109533-47650490)x3 copy number gain not provided [RCV000737094] Chr10:46109533..47650490 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23		 not provided
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22(chr10:46976673-48174779)x3 copy number gain See cases [RCV002285069] Chr10:46976673..48174779 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22(chr10:46292022-48174779)x3 copy number gain See cases [RCV002285068] Chr10:46292022..48174779 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3 copy number gain not provided [RCV002472913] Chr10:47062985..48769625 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001098845.3(ANXA8L1):c.944A>T (p.Tyr315Phe) single nucleotide variant not specified [RCV004115652] Chr10:46390890 [GRCh38]
Chr10:47158877 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001098845.3(ANXA8L1):c.362C>T (p.Ala121Val) single nucleotide variant not specified [RCV004280193] Chr10:46383496 [GRCh38]
Chr10:47166271 [GRCh37]
Chr10:10q11.22		 uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
NM_001098845.3(ANXA8L1):c.130A>G (p.Ile44Val) single nucleotide variant not specified [RCV004330149] Chr10:46381163 [GRCh38]
Chr10:47168599 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_001098845.3(ANXA8L1):c.952G>A (p.Ala318Thr) single nucleotide variant not specified [RCV004347547] Chr10:46390898 [GRCh38]
Chr10:47158869 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001098845.3(ANXA8L1):c.375G>T (p.Lys125Asn) single nucleotide variant not specified [RCV004359793] Chr10:46383509 [GRCh38]
Chr10:47166258 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_001098845.3(ANXA8L1):c.951C>T (p.Asn317=) single nucleotide variant not provided [RCV003417348] Chr10:46390897 [GRCh38]
Chr10:47158870 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22(chr10:46235740-48220168)x3 copy number gain not provided [RCV004442789] Chr10:46235740..48220168 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22(chr10:46235740-48311490)x1 copy number loss not provided [RCV004442798] Chr10:46235740..48311490 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001098845.3(ANXA8L1):c.178G>A (p.Ala60Thr) single nucleotide variant not specified [RCV004424676] Chr10:46381211 [GRCh38]
Chr10:47168551 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001098845.3(ANXA8L1):c.620C>T (p.Thr207Met) single nucleotide variant not specified [RCV004424680] Chr10:46385447 [GRCh38]
Chr10:47164320 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001098845.3(ANXA8L1):c.280C>T (p.Pro94Ser) single nucleotide variant not specified [RCV004424677] Chr10:46382651 [GRCh38]
Chr10:47167111 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3 copy number gain See cases [RCV004442779] Chr10:46975077..51089085 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001098845.3(ANXA8L1):c.547G>A (p.Ala183Thr) single nucleotide variant not specified [RCV004424679] Chr10:46384828 [GRCh38]
Chr10:47164939 [GRCh37]
Chr10:10q11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1298
Count of miRNA genes:497
Interacting mature miRNAs:537
Transcripts:ENST00000358140, ENST00000359178, ENST00000414655, ENST00000545298
Prediction methods:Microtar, Miranda, Rnahybrid
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-12720  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q11.22UniSTS
GeneMap99-G3 RH Map102264.0UniSTS


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 9 1 4 31 1 5 1296 2 3 12 127 50 34 183 691
Low 639 150 72 120 59 14 478 38 588 30 471 680 110 382 356 3
Below cutoff 1641 2681 1385 271 1102 245 2362 2053 2957 95 633 659 26 638 1669 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000584982   ⟹   ENSP00000462716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,375,627 - 46,391,781 (+)Ensembl
RefSeq Acc Id: ENST00000611655   ⟹   ENSP00000484310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,375,756 - 46,391,419 (+)Ensembl
RefSeq Acc Id: ENST00000613703   ⟹   ENSP00000478808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,375,627 - 46,391,781 (+)Ensembl
RefSeq Acc Id: ENST00000619162   ⟹   ENSP00000480221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,375,776 - 46,391,778 (+)Ensembl
RefSeq Acc Id: ENST00000620353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,375,776 - 46,381,923 (+)Ensembl
RefSeq Acc Id: ENST00000622769   ⟹   ENSP00000483608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,375,676 - 46,391,784 (+)Ensembl
RefSeq Acc Id: NM_001098845   ⟹   NP_001092315
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,375,776 - 46,391,778 (+)NCBI
GRCh371047,157,983 - 47,174,180 (-)NCBI
Build 361046,577,995 - 46,594,046 (-)NCBI Archive
CHM1_11047,815,742 - 47,831,936 (+)NCBI
T2T-CHM13v2.01047,261,818 - 47,277,820 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278923   ⟹   NP_001265852
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,375,776 - 46,391,778 (+)NCBI
GRCh371047,157,983 - 47,174,180 (-)NCBI
CHM1_11047,815,742 - 47,831,936 (+)NCBI
T2T-CHM13v2.01047,261,818 - 47,277,820 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278924   ⟹   NP_001265853
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,375,776 - 46,391,778 (+)NCBI
GRCh371047,157,983 - 47,174,180 (-)NCBI
CHM1_11047,815,742 - 47,831,936 (+)NCBI
T2T-CHM13v2.01047,261,818 - 47,277,820 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001092315   ⟸   NM_001098845
- Peptide Label: isoform 1
- UniProtKB: Q5VT78 (UniProtKB/Swiss-Prot),   Q53FY2 (UniProtKB/Swiss-Prot),   B2R939 (UniProtKB/Swiss-Prot),   A0A0B4J2D4 (UniProtKB/Swiss-Prot),   Q96H89 (UniProtKB/Swiss-Prot),   Q5VT79 (UniProtKB/Swiss-Prot),   A0A075B752 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265852   ⟸   NM_001278923
- Peptide Label: isoform 3
- UniProtKB: B4DTF2 (UniProtKB/TrEMBL),   A0A075B765 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265853   ⟸   NM_001278924
- Peptide Label: isoform 2
- UniProtKB: A0A075B765 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483608   ⟸   ENST00000622769
RefSeq Acc Id: ENSP00000462716   ⟸   ENST00000584982
RefSeq Acc Id: ENSP00000484310   ⟸   ENST00000611655
RefSeq Acc Id: ENSP00000478808   ⟸   ENST00000613703
RefSeq Acc Id: ENSP00000480221   ⟸   ENST00000619162

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13928-F1-model_v2 AlphaFold P13928 1-327 view protein structure
AF-Q5VT79-F1-model_v2 AlphaFold Q5VT79 1-327 view protein structure

Promoters
RGD ID:7217451
Promoter ID:EPDNEW_H14471
Type:multiple initiation site
Name:ANXA8L1_2
Description:annexin A8 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14472  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,369,082 - 46,369,142EPDNEW
RGD ID:7217453
Promoter ID:EPDNEW_H14472
Type:initiation region
Name:ANXA8L1_1
Description:annexin A8 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14471  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,375,776 - 46,375,836EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23334 AgrOrtholog
COSMIC ANXA8L1 COSMIC
Ensembl Genes ENSG00000264230 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000265190 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000577813.1 UniProtKB/Swiss-Prot
  ENST00000583911.5 UniProtKB/Swiss-Prot
  ENST00000584982.7 UniProtKB/TrEMBL
  ENST00000585281.6 UniProtKB/Swiss-Prot
  ENST00000611655 ENTREZGENE
  ENST00000611655.1 UniProtKB/TrEMBL
  ENST00000613703.4 UniProtKB/TrEMBL
  ENST00000619162 ENTREZGENE
  ENST00000619162.5 UniProtKB/Swiss-Prot
  ENST00000622769 ENTREZGENE
  ENST00000622769.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.220.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000264230 GTEx
  ENSG00000265190 GTEx
HGNC ID HGNC:23334 ENTREZGENE
Human Proteome Map ANXA8L1 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
  ANX8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:653145 UniProtKB/Swiss-Prot
  hsa:728113 UniProtKB/Swiss-Prot
NCBI Gene 728113 ENTREZGENE
PANTHER ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10502:SF133 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Annexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134881914 PharmGKB
PRINTS ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANNEXINVIII 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 A0A075B752 ENTREZGENE, UniProtKB/TrEMBL
  A0A075B765 ENTREZGENE
  A0A087WUP0_HUMAN UniProtKB/TrEMBL
  A0A0B4J2D4 ENTREZGENE
  ANXA8_HUMAN UniProtKB/Swiss-Prot
  AXA81_HUMAN UniProtKB/Swiss-Prot
  B2R939 ENTREZGENE
  B4DTF2 ENTREZGENE, UniProtKB/TrEMBL
  Q53FY2 ENTREZGENE
  Q5T2P7_HUMAN UniProtKB/TrEMBL
  Q5VT78 ENTREZGENE
  Q5VT79 ENTREZGENE
  Q96H89 ENTREZGENE
UniProt Secondary A0A0B4J2D4 UniProtKB/Swiss-Prot
  A6NDE6 UniProtKB/Swiss-Prot
  A6NLM1 UniProtKB/Swiss-Prot
  B2R939 UniProtKB/Swiss-Prot
  B4DKI1 UniProtKB/Swiss-Prot
  B4DTC9 UniProtKB/Swiss-Prot
  Q53FY2 UniProtKB/Swiss-Prot
  Q5T2P8 UniProtKB/Swiss-Prot
  Q5VT78 UniProtKB/Swiss-Prot
  Q5VTM4 UniProtKB/Swiss-Prot
  Q6GMY3 UniProtKB/Swiss-Prot
  Q96H89 UniProtKB/Swiss-Prot
  Q9BT34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-28 ANXA8L1  annexin A8 like 1    annexin A8-like 1  Symbol and/or name change 5135510 APPROVED
2016-03-03 ANXA8L1  annexin A8-like 1  ANXA8L2  annexin A8-like 2  Data merged from RGD:1350124 737654 PROVISIONAL