ZDHHC11B (zinc finger DHHC-type containing 11B) - Rat Genome Database

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Gene: ZDHHC11B (zinc finger DHHC-type containing 11B) Homo sapiens
Analyze
Symbol: ZDHHC11B
Name: zinc finger DHHC-type containing 11B
RGD ID: 1602781
HGNC Page HGNC:32962
Description: Predicted to enable protein-cysteine S-palmitoyltransferase activity. Predicted to be involved in antiviral innate immune response; positive regulation of defense response to virus by host; and protein targeting to membrane. Predicted to be located in endosome membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DHHC-11B; Probable palmitoyltransferase ZDHHC11B; Zinc finger DHHC domain-containing protein 11B; zinc finger, DHHC-type containing 11B
RGD Orthologs
Mouse
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385710,355 - 784,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5710,355 - 784,729 (-)EnsemblGRCh38hg38GRCh38
GRCh375710,470 - 784,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365769,818 - 820,066 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map5p15.33NCBI
HuRef5716,388 - 752,332 (-)NCBIHuRef
CHM1_15706,398 - 755,923 (-)NCBICHM1_1
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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:15372022   PMID:21873635   PMID:28331227   PMID:31495888   PMID:37434393  


Genomics

Comparative Map Data
ZDHHC11B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385710,355 - 784,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5710,355 - 784,729 (-)EnsemblGRCh38hg38GRCh38
GRCh375710,470 - 784,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365769,818 - 820,066 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map5p15.33NCBI
HuRef5716,388 - 752,332 (-)NCBIHuRef
CHM1_15706,398 - 755,923 (-)NCBICHM1_1
Zdhhc11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391374,111,970 - 74,141,109 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1374,111,970 - 74,141,109 (+)EnsemblGRCm39 Ensembl
GRCm381373,963,851 - 73,992,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1373,963,851 - 73,992,990 (+)EnsemblGRCm38mm10GRCm38
MGSCv371374,101,310 - 74,130,288 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361374,429,855 - 74,458,140 (+)NCBIMGSCv36mm8
Celera1376,293,444 - 76,322,624 (+)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.15NCBI
ZDHHC11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13411,567,784 - 11,614,975 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3416,080,852 - 16,124,884 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03411,471,765 - 11,515,571 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13411,522,312 - 11,570,448 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03411,502,246 - 11,550,175 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03411,713,120 - 11,761,000 (+)NCBIUU_Cfam_GSD_1.0
ZDHHC11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11679,501,510 - 79,528,010 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Variants

.
Variants in ZDHHC11B
3 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(chr5:629340-820360)x1 copy number loss See cases [RCV000050363] Chr5:629340..820360 [GRCh38]
Chr5:629455..820475 [GRCh37]
Chr5:682455..873475 [NCBI36]
Chr5:5p15.33
benign
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 5p15.33-12(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 5p15.33-13.2(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(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 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
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(chr5:629340-820360)x3 copy number gain See cases [RCV000133834] Chr5:629340..820360 [GRCh38]
Chr5:629455..820475 [GRCh37]
Chr5:682455..873475 [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(chr5:710379-889902)x1 copy number loss See cases [RCV000133656] Chr5:710379..889902 [GRCh38]
Chr5:710494..890017 [GRCh37]
Chr5:763494..943017 [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(chr5:49978-30112535)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 5p15.33-13.3(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 5p15.33-11(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(chr5:710409-795659)x3 copy number gain See cases [RCV000136208] Chr5:710409..795659 [GRCh38]
Chr5:710524..795774 [GRCh37]
Chr5:763524..848774 [NCBI36]
Chr5:5p15.33
benign
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(chr5:710379-820360)x3 copy number gain See cases [RCV000136510] Chr5:710379..820360 [GRCh38]
Chr5:710494..820475 [GRCh37]
Chr5:763494..873475 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:692766-772959)x1 copy number loss See cases [RCV000136442] Chr5:692766..772959 [GRCh38]
Chr5:692881..773074 [GRCh37]
Chr5:745881..826074 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:692766-795659)x3 copy number gain See cases [RCV000136177] Chr5:692766..795659 [GRCh38]
Chr5:692881..795774 [GRCh37]
Chr5:745881..848774 [NCBI36]
Chr5:5p15.33
benign
GRCh38/hg38 5p15.33(chr5:759084-820331)x3 copy number gain See cases [RCV000136193] Chr5:759084..820331 [GRCh38]
Chr5:759199..820446 [GRCh37]
Chr5:812199..873446 [NCBI36]
Chr5:5p15.33
benign
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(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 5p15.33-15.1(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 5p15.33-14.1(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(chr5:648037-820360)x3 copy number gain See cases [RCV000137202] Chr5:648037..820360 [GRCh38]
Chr5:648152..820475 [GRCh37]
Chr5:701152..873475 [NCBI36]
Chr5:5p15.33
benign
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-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 5p15.33-13.2(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 5p15.33-14.3(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(chr5:733335-821948)x3 copy number gain See cases [RCV000139332] Chr5:733335..821948 [GRCh38]
Chr5:733450..822063 [GRCh37]
Chr5:786450..875063 [NCBI36]
Chr5:5p15.33
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(chr5:759014-821948)x3 copy number gain See cases [RCV000139055] Chr5:759014..821948 [GRCh38]
Chr5:759129..822063 [GRCh37]
Chr5:812129..875063 [NCBI36]
Chr5:5p15.33
likely benign
GRCh38/hg38 5p15.33(chr5:710402-821948)x3 copy number gain See cases [RCV000139096] Chr5:710402..821948 [GRCh38]
Chr5:710517..822063 [GRCh37]
Chr5:763517..875063 [NCBI36]
Chr5:5p15.33
likely 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(chr5:710402-795718)x3 copy number gain See cases [RCV000139490] Chr5:710402..795718 [GRCh38]
Chr5:710517..795833 [GRCh37]
Chr5:763517..848833 [NCBI36]
Chr5:5p15.33
likely benign
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(chr5:629140-820501)x3 copy number gain See cases [RCV000142544] Chr5:629140..820501 [GRCh38]
Chr5:629255..820616 [GRCh37]
Chr5:682255..873616 [NCBI36]
Chr5:5p15.33
benign
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(chr5:574789-759113)x1 copy number loss See cases [RCV000142745] Chr5:574789..759113 [GRCh38]
Chr5:574904..759228 [GRCh37]
Chr5:627904..812228 [NCBI36]
Chr5:5p15.33
benign
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
GRCh38/hg38 5p15.33(chr5:629340-820360)x1 copy number loss See cases [RCV000148184] Chr5:629340..820360 [GRCh38]
Chr5:629455..820475 [GRCh37]
Chr5:682455..873475 [NCBI36]
Chr5:5p15.33
benign
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 5p15.33-14.3(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 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) copy number loss 5p partial monosomy syndrome [RCV002280774] Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(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 5p15.33-13.2(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-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.2(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(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(chr5:403929-1065399)x3 copy number gain not provided [RCV000744339] Chr5:403929..1065399 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:677974-821992)x1 copy number loss not provided [RCV000744351] Chr5:677974..821992 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:681625-785864)x0 copy number loss not provided [RCV000744352] Chr5:681625..785864 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:681625-820185)x1 copy number loss not provided [RCV000744353] Chr5:681625..820185 [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
NC_000005.10:g.(?_218346)_(1295046_?)del deletion Interstitial lung disease 2 [RCV001031825] Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
NC_000005.10:g.(?_218349)_(1297373_?)del deletion Interstitial lung disease 2 [RCV001032442] Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
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 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 copy number loss not provided [RCV001005640] Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33
likely pathogenic|uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 copy number loss not provided [RCV001005646] Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
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(chr5:113576-4325585)x1 copy number loss not provided [RCV001005641] Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33
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 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
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_000005.9:g.775423_1189139dup duplication not provided [RCV001263317] Chr5:775423..1189139 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:499883-1309062)x3 copy number gain not provided [RCV001258845] Chr5:499883..1309062 [GRCh37]
Chr5:5p15.33
likely benign
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(chr5:481399-1021206)x3 copy number gain not provided [RCV001258847] Chr5:481399..1021206 [GRCh37]
Chr5:5p15.33
uncertain significance
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(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
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(chr5:26141-2537457)x3 copy number gain Global developmental delay [RCV002284255] Chr5:26141..2537457 [GRCh37]
Chr5:5p15.33
uncertain significance
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_?)dup duplication Parkinsonism-dystonia, infantile [RCV001939977]|not provided [RCV001939976] Chr5:218471..1816030 [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.(?_482643)_(1895829_?)del deletion Dyskeratosis congenita, autosomal dominant 2 [RCV003113974] Chr5:482643..1895829 [GRCh37]
Chr5:5p15.33
pathogenic
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(chr5:113576-2027194)x1 copy number loss See cases [RCV002293403] Chr5:113576..2027194 [GRCh37]
Chr5:5p15.33
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(chr5:676464-1274326)x3 copy number gain not provided [RCV002474837] Chr5:676464..1274326 [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 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
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
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
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 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:676464-972978)x3 copy number gain not provided [RCV003484600] Chr5:676464..972978 [GRCh37]
Chr5:5p15.33
uncertain significance
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
NM_001351303.2(ZDHHC11B):c.690T>C (p.Thr230=) single nucleotide variant not provided [RCV003435244] Chr5:748498 [GRCh38]
Chr5:748613 [GRCh37]
Chr5:5p15.33
likely benign
NM_001351303.2(ZDHHC11B):c.576C>T (p.Leu192=) single nucleotide variant not provided [RCV003435245] Chr5:751185 [GRCh38]
Chr5:751300 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1 copy number loss not specified [RCV003986597] Chr5:113576..7436985 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 copy number loss not specified [RCV003986599] Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-3612214)x1 copy number loss not specified [RCV003986564] Chr5:113576..3612214 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33(chr5:113577-2191119)x1 copy number loss See cases [RCV004442837] Chr5:113577..2191119 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 copy number gain not provided [RCV004442822] Chr5:113577..31773283 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:403181-986695)x3 copy number gain not provided [RCV004442783] Chr5:403181..986695 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1 copy number loss not provided [RCV004442820] Chr5:113577..13341742 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:678
Count of miRNA genes:443
Interacting mature miRNAs:468
Transcripts:ENST00000382776, ENST00000508859, ENST00000522356
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
RH91350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375747,630 - 747,800UniSTSGRCh37
GRCh375839,722 - 839,892UniSTSGRCh37
Build 365800,630 - 800,800RGDNCBI36
Cytogenetic Map5p15.33UniSTS
HuRef5822,548 - 822,718UniSTS
HuRef5731,636 - 731,806UniSTS
GeneMap99-GB4 RH Map512.63UniSTS
D5S2254E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375750,400 - 750,540UniSTSGRCh37
GRCh375842,867 - 843,007UniSTSGRCh37
Build 365803,400 - 803,540RGDNCBI36
Cytogenetic Map5p15.33UniSTS
HuRef5825,693 - 825,833UniSTS
HuRef5734,371 - 734,511UniSTS
A008P27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375796,439 - 796,638UniSTSGRCh37
GRCh375712,141 - 712,340UniSTSGRCh37
Build 365765,141 - 765,340RGDNCBI36
Celera59,219 - 9,418RGD
Cytogenetic Map5p15.33UniSTS
HuRef5696,819 - 697,018UniSTS
HuRef5780,599 - 780,798UniSTS
GeneMap99-GB4 RH Map55.05UniSTS


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 1246 651 629 93 181 32 993 821 2479 25 196 806 61 115 543
Low 1150 1775 1038 494 632 396 3235 1335 1169 334 1173 710 105 1069 2228 1
Below cutoff 32 552 48 30 957 31 110 29 42 51 52 74 4 20 17 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001351303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000382776   ⟹   ENSP00000445280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5716,808 - 766,919 (-)Ensembl
RefSeq Acc Id: ENST00000508859   ⟹   ENSP00000442373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5710,355 - 784,729 (-)Ensembl
RefSeq Acc Id: ENST00000522356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5710,355 - 784,709 (-)Ensembl
RefSeq Acc Id: ENST00000622126   ⟹   ENSP00000484004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5747,350 - 751,234 (-)Ensembl
RefSeq Acc Id: ENST00000651083   ⟹   ENSP00000498706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5766,835 - 784,729 (-)Ensembl
RefSeq Acc Id: ENST00000651221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5766,615 - 784,729 (-)Ensembl
RefSeq Acc Id: ENST00000651714   ⟹   ENSP00000498273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5751,206 - 784,729 (-)Ensembl
RefSeq Acc Id: ENST00000652055   ⟹   ENSP00000499203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5766,789 - 784,729 (-)Ensembl
RefSeq Acc Id: NM_001351303   ⟹   NP_001338232
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: NR_147095
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: NR_147096
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010110   ⟹   XP_016865599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010111   ⟹   XP_016865600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010112   ⟹   XP_016865601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010113   ⟹   XP_016865602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010114   ⟹   XP_016865603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 777,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010115   ⟹   XP_016865604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 784,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010116   ⟹   XP_016865605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010117   ⟹   XP_016865606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010118   ⟹   XP_016865607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385745,189 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010119   ⟹   XP_016865608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385745,189 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010121   ⟹   XP_016865610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385748,420 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446188   ⟹   XP_024301956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 769,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417580   ⟹   XP_047273536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385710,355 - 769,937 (-)NCBI
RefSeq Acc Id: XM_047417582   ⟹   XP_047273538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385748,420 - 769,937 (-)NCBI
RefSeq Acc Id: XM_047417583   ⟹   XP_047273539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385750,100 - 769,937 (-)NCBI
RefSeq Acc Id: XM_047417584   ⟹   XP_047273540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385750,100 - 769,937 (-)NCBI
RefSeq Acc Id: XP_016865605   ⟸   XM_017010116
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016865600   ⟸   XM_017010111
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016865599   ⟸   XM_017010110
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016865604   ⟸   XM_017010115
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016865602   ⟸   XM_017010113
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016865603   ⟸   XM_017010114
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016865601   ⟸   XM_017010112
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016865606   ⟸   XM_017010117
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016865607   ⟸   XM_017010118
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016865608   ⟸   XM_017010119
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016865610   ⟸   XM_017010121
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024301956   ⟸   XM_024446188
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001338232   ⟸   NM_001351303
- UniProtKB: P0C7U3 (UniProtKB/Swiss-Prot),   A6NHR3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000484004   ⟸   ENST00000622126
RefSeq Acc Id: ENSP00000498273   ⟸   ENST00000651714
RefSeq Acc Id: ENSP00000442373   ⟸   ENST00000508859
RefSeq Acc Id: ENSP00000498706   ⟸   ENST00000651083
RefSeq Acc Id: ENSP00000499203   ⟸   ENST00000652055
RefSeq Acc Id: ENSP00000445280   ⟸   ENST00000382776
RefSeq Acc Id: XP_047273536   ⟸   XM_047417580
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047273538   ⟸   XM_047417582
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047273540   ⟸   XM_047417584
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047273539   ⟸   XM_047417583
- Peptide Label: isoform X9
Protein Domains
DHHC   Palmitoyltransferase DHHC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0C7U3-F1-model_v2 AlphaFold P0C7U3 1-371 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32962 AgrOrtholog
COSMIC ZDHHC11B COSMIC
Ensembl Genes ENSG00000206077 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000286094 Ensembl
Ensembl Transcript ENST00000508859 ENTREZGENE
  ENST00000508859.8 UniProtKB/Swiss-Prot
  ENST00000522356.3 UniProtKB/TrEMBL
  ENST00000651083.1 UniProtKB/TrEMBL
  ENST00000651714.1 UniProtKB/TrEMBL
  ENST00000652055.1 UniProtKB/TrEMBL
GTEx ENSG00000206077 GTEx
  ENSG00000286094 GTEx
HGNC ID HGNC:32962 ENTREZGENE
Human Proteome Map ZDHHC11B Human Proteome Map
InterPro Palmitoyltrfase_DHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 653082 ENTREZGENE
PANTHER PALMITOYLTRANSFERASE ZDHHC11-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER DHHC DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA147357087 PharmGKB
PROSITE DHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494BZX9_HUMAN UniProtKB/TrEMBL
  A0A494C0T6_HUMAN UniProtKB/TrEMBL
  A0A494C1T0_HUMAN UniProtKB/TrEMBL
  A0A7P0TA36_HUMAN UniProtKB/TrEMBL
  A6NHR3 ENTREZGENE
  P0C7U3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NHR3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 ZDHHC11B  zinc finger DHHC-type containing 11B    zinc finger, DHHC-type containing 11B  Symbol and/or name change 5135510 APPROVED