EXOC3 (exocyst complex component 3) - Rat Genome Database

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Gene: EXOC3 (exocyst complex component 3) Homo sapiens
Analyze
Symbol: EXOC3
Name: exocyst complex component 3
RGD ID: 1344149
HGNC Page HGNC:30378
Description: Enables cadherin binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to be located in cytosol and secretory granule membrane. Predicted to be part of exocyst. Predicted to be active in presynaptic membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: exocyst complex component Sec6; Sec 6 homolog; SEC6; SEC6-like 1; sec6-like 1 (s. cerevisiae); SEC6L1; Sec6p
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385443,176 - 467,290 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5443,175 - 471,937 (+)EnsemblGRCh38hg38GRCh38
GRCh375443,291 - 467,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365496,334 - 520,411 (+)NCBINCBI36Build 36hg18NCBI36
Build 345496,374 - 520,407NCBI
Celera5541,456 - 565,545 (+)NCBICelera
Cytogenetic Map5p15.33NCBI
HuRef5431,407 - 455,422 (+)NCBIHuRef
CHM1_15443,164 - 467,222 (+)NCBICHM1_1
T2T-CHM13v2.05438,418 - 462,555 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8619474   PMID:8982167   PMID:9110174   PMID:9405631   PMID:9655500   PMID:11406615   PMID:11865051   PMID:12687004   PMID:12693554   PMID:12738960   PMID:12954101   PMID:14525976  
PMID:15037366   PMID:15489334   PMID:18329369   PMID:19889837   PMID:20360068   PMID:20706999   PMID:20736409   PMID:21297633   PMID:21639856   PMID:21832049   PMID:21873635   PMID:21988832  
PMID:22172676   PMID:22381337   PMID:22420621   PMID:22534017   PMID:22939629   PMID:23897890   PMID:23956138   PMID:24711643   PMID:24949832   PMID:25108383   PMID:25468996   PMID:25921289  
PMID:26186194   PMID:26247921   PMID:26283729   PMID:26344197   PMID:26350970   PMID:26496610   PMID:26638075   PMID:26892009   PMID:27173435   PMID:27248496   PMID:27880917   PMID:28514442  
PMID:28712289   PMID:29117863   PMID:29229926   PMID:29467282   PMID:29509190   PMID:29576527   PMID:29729335   PMID:30021884   PMID:30639242   PMID:31617661   PMID:31871319   PMID:32062451  
PMID:32241891   PMID:32296183   PMID:32807901   PMID:33637726   PMID:33658012   PMID:33660365   PMID:33742100   PMID:33957083   PMID:33961781   PMID:34048709   PMID:34079125   PMID:34373451  
PMID:35241646   PMID:35831314   PMID:36215168   PMID:37232246   PMID:37689310   PMID:38007759  


Genomics

Comparative Map Data
EXOC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385443,176 - 467,290 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5443,175 - 471,937 (+)EnsemblGRCh38hg38GRCh38
GRCh375443,291 - 467,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365496,334 - 520,411 (+)NCBINCBI36Build 36hg18NCBI36
Build 345496,374 - 520,407NCBI
Celera5541,456 - 565,545 (+)NCBICelera
Cytogenetic Map5p15.33NCBI
HuRef5431,407 - 455,422 (+)NCBIHuRef
CHM1_15443,164 - 467,222 (+)NCBICHM1_1
T2T-CHM13v2.05438,418 - 462,555 (+)NCBIT2T-CHM13v2.0
Exoc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391374,317,921 - 74,358,151 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1374,317,607 - 74,356,851 (-)EnsemblGRCm39 Ensembl
GRCm381374,169,802 - 74,210,032 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1374,169,488 - 74,208,732 (-)EnsemblGRCm38mm10GRCm38
MGSCv371374,307,253 - 74,346,148 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361374,635,807 - 74,674,702 (-)NCBIMGSCv36mm8
Celera1376,499,394 - 76,538,276 (-)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.15NCBI
Exoc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8130,919,871 - 30,950,624 (+)NCBIGRCr8
mRatBN7.2129,091,298 - 29,122,056 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl129,091,294 - 29,122,045 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx128,893,113 - 28,923,914 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0134,892,975 - 34,923,773 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0129,093,734 - 29,124,536 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0131,700,953 - 31,731,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl131,700,953 - 31,731,815 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0133,126,575 - 33,159,109 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4129,897,536 - 29,928,281 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1129,902,027 - 29,931,141 (+)NCBI
Celera127,743,063 - 27,773,955 (+)NCBICelera
Cytogenetic Map1p11NCBI
Exoc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955504196,695 - 223,812 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955504195,743 - 223,812 (+)NCBIChiLan1.0ChiLan1.0
EXOC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24662,394 - 690,011 (+)NCBINHGRI_mPanPan1-v2
PanPan1.1 Ensembl5568,471 - 596,723 (+)Ensemblpanpan1.1panPan2
EXOC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13411,790,927 - 11,811,566 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3411,791,926 - 11,811,561 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3416,304,626 - 16,325,902 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03411,695,749 - 11,716,848 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3411,694,759 - 11,716,578 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13411,746,203 - 11,767,708 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03411,727,053 - 11,748,335 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03411,937,421 - 11,958,497 (-)NCBIUU_Cfam_GSD_1.0
Exoc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213244,844,352 - 244,861,748 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368151,005,560 - 1,023,070 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368151,005,637 - 1,022,916 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EXOC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1679,705,750 - 79,730,047 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11679,705,743 - 79,730,272 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EXOC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.14320,067 - 359,647 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl4337,658 - 360,149 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606427,462,671 - 27,487,604 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Exoc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624751215,821 - 255,104 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624751215,762 - 254,200 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EXOC3
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 copy number loss See cases [RCV000050885] Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 copy number loss See cases [RCV000050655] Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 copy number loss See cases [RCV000051100] Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:138272-710438)x3 copy number gain See cases [RCV000051102] Chr5:138272..710438 [GRCh38]
Chr5:138387..710553 [GRCh37]
Chr5:191387..763553 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 copy number gain See cases [RCV000051808] Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 copy number gain See cases [RCV000051809] Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33(chr5:316478-937457)x3 copy number gain See cases [RCV000051661] Chr5:316478..937457 [GRCh38]
Chr5:316593..937572 [GRCh37]
Chr5:369593..990572 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 copy number loss See cases [RCV000053397] Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 copy number loss See cases [RCV000053400] Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 copy number loss See cases [RCV000053420] Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 copy number loss See cases [RCV000053421] Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 copy number loss See cases [RCV000053423] Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 copy number loss See cases [RCV000053444] Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:220313-470506)x3 copy number gain See cases [RCV000133713] Chr5:220313..470506 [GRCh38]
Chr5:220428..470621 [GRCh37]
Chr5:273428..523621 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:369755-574780)x3 copy number gain See cases [RCV000134721] Chr5:369755..574780 [GRCh38]
Chr5:369870..574895 [GRCh37]
Chr5:422870..627895 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 copy number gain See cases [RCV000135393] Chr5:22149..1278576 [GRCh38]
Chr5:22149..1278691 [GRCh37]
Chr5:75149..1331691 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 copy number loss See cases [RCV000136900] Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:435846-981479)x3 copy number gain See cases [RCV000137119] Chr5:435846..981479 [GRCh38]
Chr5:435961..981594 [GRCh37]
Chr5:488961..1034594 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 copy number loss See cases [RCV000138215] Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-946680)x1 copy number loss See cases [RCV000138166] Chr5:22149..946680 [GRCh38]
Chr5:22149..946795 [GRCh37]
Chr5:75149..999795 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 copy number loss See cases [RCV000137942] Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1
likely benign
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 copy number gain See cases [RCV000139303] Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-658446)x1 copy number loss See cases [RCV000140334] Chr5:22149..658446 [GRCh38]
Chr5:22149..658561 [GRCh37]
Chr5:75149..711561 [NCBI36]
Chr5:5p15.33
likely benign
GRCh38/hg38 5p15.33(chr5:314795-496067)x1 copy number loss See cases [RCV000140335] Chr5:314795..496067 [GRCh38]
Chr5:314910..496182 [GRCh37]
Chr5:367910..549182 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:22149-3619159) copy number gain See cases [RCV000139908] Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 copy number loss See cases [RCV000141244] Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 copy number loss See cases [RCV000141930] Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 copy number loss See cases [RCV000141898] Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 copy number loss See cases [RCV000143018] Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 copy number loss See cases [RCV000142697] Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 copy number gain See cases [RCV000142646] Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 copy number loss See cases [RCV000143332] Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:26141-2537457)x3 copy number gain Global developmental delay [RCV002284255] Chr5:26141..2537457 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 copy number loss See cases [RCV000447679] Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 copy number loss See cases [RCV000446677] Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 copy number loss See cases [RCV000446523] Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 copy number loss See cases [RCV000446665] Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 copy number loss See cases [RCV000448543] Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 copy number loss See cases [RCV000447780] Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 copy number gain See cases [RCV000447969] Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 copy number loss See cases [RCV000511088] Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
NM_007277.5(EXOC3):c.1798C>T (p.Arg600Trp) single nucleotide variant Inborn genetic diseases [RCV003292816] Chr5:465132 [GRCh38]
Chr5:465247 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1049C>T (p.Thr350Ile) single nucleotide variant Inborn genetic diseases [RCV003254176] Chr5:456891 [GRCh38]
Chr5:457006 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 copy number loss See cases [RCV000512452] Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 copy number loss not provided [RCV000682510] Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 copy number loss not provided [RCV000682511] Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 copy number loss not provided [RCV000682512] Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 copy number loss not provided [RCV000682513] Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 copy number loss not provided [RCV000682509] Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:403286-685504)x3 copy number gain not provided [RCV000744337] Chr5:403286..685504 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:403929-685748)x3 copy number gain not provided [RCV000744338] Chr5:403929..685748 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:403929-1065399)x3 copy number gain not provided [RCV000744339] Chr5:403929..1065399 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:463898-472551)x3 copy number gain not provided [RCV000744341] Chr5:463898..472551 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:463898-476910)x3 copy number gain not provided [RCV000744342] Chr5:463898..476910 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:464153-474936)x3 copy number gain not provided [RCV000744343] Chr5:464153..474936 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:465879-472948)x1 copy number loss not provided [RCV000744344] Chr5:465879..472948 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:465879-474515)x3 copy number gain not provided [RCV000744345] Chr5:465879..474515 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:465879-474782)x3 copy number gain not provided [RCV000744346] Chr5:465879..474782 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 copy number loss not provided [RCV000762763] Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33
likely pathogenic
NM_007277.5(EXOC3):c.1001A>G (p.Asn334Ser) single nucleotide variant Inborn genetic diseases [RCV003245416] Chr5:454006 [GRCh38]
Chr5:454121 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.908C>G (p.Pro303Arg) single nucleotide variant not provided [RCV000950673] Chr5:453913 [GRCh38]
Chr5:454028 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 copy number loss not provided [RCV001005645] Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)dup duplication Interstitial lung disease 2 [RCV001031280] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:306980-599485)x3 copy number gain not provided [RCV000846112] Chr5:306980..599485 [GRCh37]
Chr5:5p15.33
uncertain significance
NC_000005.10:g.(?_218349)_(1297373_?)del deletion Interstitial lung disease 2 [RCV001032442] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 copy number loss not provided [RCV001005641] Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 copy number loss not provided [RCV001005646] Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_007277.5(EXOC3):c.234G>A (p.Ser78=) single nucleotide variant not provided [RCV000894736] Chr5:447622 [GRCh38]
Chr5:447737 [GRCh37]
Chr5:5p15.33
benign
NM_007277.5(EXOC3):c.126C>T (p.Ser42=) single nucleotide variant not provided [RCV000959587] Chr5:446331 [GRCh38]
Chr5:446446 [GRCh37]
Chr5:5p15.33
benign
NC_000005.10:g.(?_218346)_(1295046_?)del deletion Interstitial lung disease 2 [RCV001031825] Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 copy number loss not provided [RCV001005640] Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33
likely pathogenic|uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 copy number loss not provided [RCV001258846] Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 copy number loss not provided [RCV001258849] Chr5:113576..1286005 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:13200-4012072)x1 copy number loss not provided [RCV001537929] Chr5:13200..4012072 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
NC_000005.9:g.(?_218471)_(1895829_?)del deletion Parkinsonism-dystonia, infantile [RCV003120784] Chr5:218471..1895829 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:113577-2276310)x1 copy number loss not provided [RCV001834250] Chr5:113577..2276310 [GRCh37]
Chr5:5p15.33
uncertain significance
NC_000005.9:g.(?_218471)_(1816030_?)del deletion not provided [RCV001915899] Chr5:218471..1816030 [GRCh37]
Chr5:5p15.33
pathogenic
NC_000005.9:g.(?_218471)_(1816030_?)dup duplication Parkinsonism-dystonia, infantile [RCV001939977]|not provided [RCV001939976] Chr5:218471..1816030 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 copy number loss See cases [RCV002286352] Chr5:113576..8007018 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) copy number loss 5p partial monosomy syndrome [RCV002280774] Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-2027194)x1 copy number loss See cases [RCV002293403] Chr5:113576..2027194 [GRCh37]
Chr5:5p15.33
pathogenic
NM_007277.5(EXOC3):c.1180T>G (p.Trp394Gly) single nucleotide variant Inborn genetic diseases [RCV003262717] Chr5:457915 [GRCh38]
Chr5:458030 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:150265-668842)x3 copy number gain not provided [RCV002474773] Chr5:150265..668842 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1621G>A (p.Gly541Ser) single nucleotide variant Inborn genetic diseases [RCV002686699] Chr5:462275 [GRCh38]
Chr5:462390 [GRCh37]
Chr5:5p15.33
likely benign
NM_007277.5(EXOC3):c.1414T>C (p.Tyr472His) single nucleotide variant Inborn genetic diseases [RCV002773529] Chr5:461982 [GRCh38]
Chr5:462097 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.920T>G (p.Ile307Ser) single nucleotide variant Inborn genetic diseases [RCV002729383] Chr5:453925 [GRCh38]
Chr5:454040 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1597G>A (p.Ala533Thr) single nucleotide variant Inborn genetic diseases [RCV002968747] Chr5:462251 [GRCh38]
Chr5:462366 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1619G>A (p.Ser540Asn) single nucleotide variant Inborn genetic diseases [RCV002688512] Chr5:462273 [GRCh38]
Chr5:462388 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1022C>T (p.Thr341Met) single nucleotide variant Inborn genetic diseases [RCV002970403] Chr5:454027 [GRCh38]
Chr5:454142 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
NM_007277.5(EXOC3):c.25G>A (p.Val9Ile) single nucleotide variant Inborn genetic diseases [RCV002688942] Chr5:446230 [GRCh38]
Chr5:446345 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1066G>C (p.Val356Leu) single nucleotide variant Inborn genetic diseases [RCV002981360] Chr5:456908 [GRCh38]
Chr5:457023 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.398T>C (p.Ile133Thr) single nucleotide variant Inborn genetic diseases [RCV002998022] Chr5:453403 [GRCh38]
Chr5:453518 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1551A>C (p.Glu517Asp) single nucleotide variant Inborn genetic diseases [RCV002910952] Chr5:462205 [GRCh38]
Chr5:462320 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1613G>C (p.Gly538Ala) single nucleotide variant Inborn genetic diseases [RCV002742535] Chr5:462267 [GRCh38]
Chr5:462382 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.706G>T (p.Val236Phe) single nucleotide variant Inborn genetic diseases [RCV002916548] Chr5:453711 [GRCh38]
Chr5:453826 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.2095G>T (p.Val699Leu) single nucleotide variant Inborn genetic diseases [RCV002767927] Chr5:466755 [GRCh38]
Chr5:466870 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.769A>G (p.Thr257Ala) single nucleotide variant Inborn genetic diseases [RCV002765103] Chr5:453774 [GRCh38]
Chr5:453889 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.992T>C (p.Leu331Pro) single nucleotide variant Inborn genetic diseases [RCV002702750] Chr5:453997 [GRCh38]
Chr5:454112 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.64C>T (p.Arg22Cys) single nucleotide variant Inborn genetic diseases [RCV002936792] Chr5:446269 [GRCh38]
Chr5:446384 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1703C>T (p.Ala568Val) single nucleotide variant Inborn genetic diseases [RCV002878163] Chr5:464339 [GRCh38]
Chr5:464454 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1406C>T (p.Ala469Val) single nucleotide variant Inborn genetic diseases [RCV003220041] Chr5:461974 [GRCh38]
Chr5:462089 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.290A>G (p.Lys97Arg) single nucleotide variant Inborn genetic diseases [RCV003176080] Chr5:447678 [GRCh38]
Chr5:447793 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 copy number loss Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2
pathogenic
NM_007277.5(EXOC3):c.1777A>C (p.Arg593=) single nucleotide variant Inborn genetic diseases [RCV003344972] Chr5:465111 [GRCh38]
Chr5:465226 [GRCh37]
Chr5:5p15.33
likely benign
NM_007277.5(EXOC3):c.1388G>A (p.Ser463Asn) single nucleotide variant Inborn genetic diseases [RCV003361745] Chr5:459456 [GRCh38]
Chr5:459571 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.337G>A (p.Val113Met) single nucleotide variant Inborn genetic diseases [RCV003356347] Chr5:447725 [GRCh38]
Chr5:447840 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1862A>G (p.Glu621Gly) single nucleotide variant Inborn genetic diseases [RCV003354145] Chr5:465196 [GRCh38]
Chr5:465311 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.1186C>T (p.Arg396Trp) single nucleotide variant Inborn genetic diseases [RCV003375919] Chr5:457921 [GRCh38]
Chr5:458036 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_007277.5(EXOC3):c.214G>A (p.Val72Ile) single nucleotide variant Inborn genetic diseases [RCV003366454] Chr5:447602 [GRCh38]
Chr5:447717 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 copy number loss not provided [RCV003485448] Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5770
Count of miRNA genes:1045
Interacting mature miRNAs:1304
Transcripts:ENST00000315013, ENST00000503889, ENST00000505947, ENST00000508022, ENST00000509294, ENST00000510028, ENST00000510441, ENST00000511015, ENST00000512944, ENST00000515601
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
RH41870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375467,255 - 467,353UniSTSGRCh37
Build 365520,255 - 520,353RGDNCBI36
Celera5565,389 - 565,487RGD
Cytogenetic Map5p15.33UniSTS
GeneMap99-GB4 RH Map57.21UniSTS
D5S2220E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375460,285 - 460,390UniSTSGRCh37
Build 365513,285 - 513,390RGDNCBI36
Celera5558,424 - 558,529RGD
Cytogenetic Map5p15.33UniSTS
HuRef5448,381 - 448,486UniSTS
SHGC-145906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375466,292 - 466,621UniSTSGRCh37
Build 365519,292 - 519,621RGDNCBI36
Celera5564,426 - 564,755RGD
Cytogenetic Map5p15.33UniSTS
HuRef5454,382 - 454,711UniSTS
TNG Radiation Hybrid Map5140.0UniSTS
SHGC-54627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375463,517 - 463,640UniSTSGRCh37
Build 365516,517 - 516,640RGDNCBI36
Celera5561,651 - 561,774RGD
Cytogenetic Map5p15.33UniSTS
HuRef5451,607 - 451,730UniSTS
TNG Radiation Hybrid Map5153.0UniSTS
WI-16020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375471,903 - 472,028UniSTSGRCh37
Build 365524,903 - 525,028RGDNCBI36
Celera5569,535 - 569,660RGD
Cytogenetic Map5p15.33UniSTS
HuRef5459,189 - 459,314UniSTS
GeneMap99-GB4 RH Map56.78UniSTS
Whitehead-RH Map59.0UniSTS
HSCZPD012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375471,825 - 472,028UniSTSGRCh37
Build 365524,825 - 525,028RGDNCBI36
Celera5569,457 - 569,660RGD
Cytogenetic Map5p15.33UniSTS
HuRef5459,111 - 459,314UniSTS
GeneMap99-GB4 RH Map58.91UniSTS
Whitehead-RH Map511.0UniSTS
RH15992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375467,208 - 467,366UniSTSGRCh37
Build 365520,208 - 520,366RGDNCBI36
Celera5565,342 - 565,500RGD
Cytogenetic Map5p15.33UniSTS
GeneMap99-GB4 RH Map58.91UniSTS


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 pharyngeal arch
High
Medium 2423 2642 1480 389 1826 231 4345 2013 3239 380 1441 1601 171 1204 2787 3
Low 12 343 244 234 122 234 11 180 474 38 8 7 1 1 1 1
Below cutoff 1 1 1 11 1 5 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_007277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA487875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI628051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL545132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000315013   ⟹   ENSP00000323377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5446,149 - 467,285 (+)Ensembl
RefSeq Acc Id: ENST00000503889   ⟹   ENSP00000423435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5453,397 - 471,936 (+)Ensembl
RefSeq Acc Id: ENST00000505947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5464,789 - 466,078 (+)Ensembl
RefSeq Acc Id: ENST00000508022   ⟹   ENSP00000422596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5443,268 - 447,594 (+)Ensembl
RefSeq Acc Id: ENST00000509294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5469,856 - 471,581 (+)Ensembl
RefSeq Acc Id: ENST00000510028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5457,006 - 459,580 (+)Ensembl
RefSeq Acc Id: ENST00000510441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5443,175 - 447,314 (+)Ensembl
RefSeq Acc Id: ENST00000511015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5461,630 - 464,728 (+)Ensembl
RefSeq Acc Id: ENST00000512944   ⟹   ENSP00000425587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5443,176 - 467,290 (+)Ensembl
RefSeq Acc Id: ENST00000515601   ⟹   ENSP00000424404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5443,233 - 471,937 (+)Ensembl
RefSeq Acc Id: NM_007277   ⟹   NP_009208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385443,176 - 467,290 (+)NCBI
GRCh375443,305 - 467,414 (+)NCBI
Build 365496,334 - 520,411 (+)NCBI Archive
Celera5541,456 - 565,545 (+)RGD
HuRef5431,407 - 455,422 (+)ENTREZGENE
CHM1_15443,164 - 467,222 (+)NCBI
T2T-CHM13v2.05438,418 - 462,555 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416683   ⟹   XP_047272639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385443,176 - 462,063 (+)NCBI
RefSeq Acc Id: NP_009208   ⟸   NM_007277
- UniProtKB: Q8WUW0 (UniProtKB/Swiss-Prot),   Q8TEN6 (UniProtKB/Swiss-Prot),   Q6P2E8 (UniProtKB/Swiss-Prot),   Q96DI4 (UniProtKB/Swiss-Prot),   O60645 (UniProtKB/Swiss-Prot),   Q69YP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000423435   ⟸   ENST00000503889
RefSeq Acc Id: ENSP00000422596   ⟸   ENST00000508022
RefSeq Acc Id: ENSP00000323377   ⟸   ENST00000315013
RefSeq Acc Id: ENSP00000425587   ⟸   ENST00000512944
RefSeq Acc Id: ENSP00000424404   ⟸   ENST00000515601
RefSeq Acc Id: XP_047272639   ⟸   XM_047416683
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60645-F1-model_v2 AlphaFold O60645 1-745 view protein structure

Promoters
RGD ID:6869134
Promoter ID:EPDNEW_H7732
Type:initiation region
Name:EXOC3_1
Description:exocyst complex component 3
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
GRCh385443,176 - 443,236EPDNEW
RGD ID:6802928
Promoter ID:HG_KWN:49688
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007277,   NM_138464
Position:
Human AssemblyChrPosition (strand)Source
Build 365493,721 - 496,272 (-)MPROMDB
RGD ID:6803097
Promoter ID:HG_KWN:49689
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:ENST00000340158
Position:
Human AssemblyChrPosition (strand)Source
Build 365499,174 - 499,674 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30378 AgrOrtholog
COSMIC EXOC3 COSMIC
Ensembl Genes ENSG00000180104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000315013.9 UniProtKB/Swiss-Prot
  ENST00000503889.2 UniProtKB/TrEMBL
  ENST00000508022.1 UniProtKB/TrEMBL
  ENST00000512944 ENTREZGENE
  ENST00000512944.6 UniProtKB/Swiss-Prot
  ENST00000515601.6 UniProtKB/TrEMBL
Gene3D-CATH 1.10.357.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.357.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180104 GTEx
HGNC ID HGNC:30378 ENTREZGENE
Human Proteome Map EXOC3 Human Proteome Map
InterPro EXOC3/Sec6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EXOC3/Sec6_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11336 ENTREZGENE
OMIM 608186 OMIM
PANTHER EXOCYST COMPLEX COMPONENT 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21292 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sec6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134869816 PharmGKB
UniProt D6RB59_HUMAN UniProtKB/TrEMBL
  D6RBR9_HUMAN UniProtKB/TrEMBL
  EXOC3_HUMAN UniProtKB/Swiss-Prot
  H0Y995_HUMAN UniProtKB/TrEMBL
  O60645 ENTREZGENE
  Q69YP2 ENTREZGENE, UniProtKB/TrEMBL
  Q6P2E8 ENTREZGENE
  Q8TEN6 ENTREZGENE
  Q8WUW0 ENTREZGENE
  Q96DI4 ENTREZGENE
UniProt Secondary Q6P2E8 UniProtKB/Swiss-Prot
  Q8TEN6 UniProtKB/Swiss-Prot
  Q8WUW0 UniProtKB/Swiss-Prot
  Q96DI4 UniProtKB/Swiss-Prot