AMELY (amelogenin Y-linked) - Rat Genome Database

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Gene: AMELY (amelogenin Y-linked) Homo sapiens
Analyze
Symbol: AMELY
Name: amelogenin Y-linked
RGD ID: 1343944
HGNC Page HGNC:462
Description: A structural constituent of tooth enamel. Predicted to be involved in enamel mineralization. Predicted to be located in extracellular region. Predicted to be active in collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amelogenin (Y chromosome); amelogenin, Y isoform; amelogenin, Y-linked; AMGL; AMGY
RGD Orthologs
Bonobo
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
GRCh38Y6,865,918 - 6,911,752 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY6,865,918 - 6,911,752 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y6,733,959 - 6,779,793 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y6,793,959 - 6,802,068 (-)NCBINCBI36Build 36hg18NCBI36
Build 34Y6,777,319 - 6,785,429NCBI
CeleraY2,473,979 - 2,482,088 (+)NCBICelera
Cytogenetic MapYp11.2NCBI
HuRefY4,293,013 - 4,301,121 (-)NCBIHuRef
T2T-CHM13v2.0Y6,518,242 - 6,564,080 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Male infertility  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1734713   PMID:2004775   PMID:2037302   PMID:2737677   PMID:12477932   PMID:12815422   PMID:15489334   PMID:17189292   PMID:17588179   PMID:18029348   PMID:18067069   PMID:21873635  
PMID:22669323   PMID:23623014   PMID:23948316   PMID:28828942   PMID:32296183   PMID:32571191  


Genomics

Comparative Map Data
AMELY
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y6,865,918 - 6,911,752 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY6,865,918 - 6,911,752 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y6,733,959 - 6,779,793 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y6,793,959 - 6,802,068 (-)NCBINCBI36Build 36hg18NCBI36
Build 34Y6,777,319 - 6,785,429NCBI
CeleraY2,473,979 - 2,482,088 (+)NCBICelera
Cytogenetic MapYp11.2NCBI
HuRefY4,293,013 - 4,301,121 (-)NCBIHuRef
T2T-CHM13v2.0Y6,518,242 - 6,564,080 (-)NCBIT2T-CHM13v2.0
AMELY
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2Y43,791,359 - 44,000,131 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1Y2,926,868 - 3,135,641 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X3,898,819 - 3,930,686 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X11,214,103 - 11,221,443 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX11,214,103 - 11,221,443 (+)Ensemblpanpan1.1panPan2

Variants

.
Variants in AMELY
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Yp11.2-q12(chrY:2786811-56885333)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|Global developmental delay [RCV000050326]|Abnormality of the heart [RCV000050327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|See cases [RCV000050325] ChrY:2786811..56885333 [GRCh38]
ChrY:2654852..59031480 [GRCh37]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2 copy number gain See cases [RCV000050823] ChrY:2788370..20525326 [GRCh38]
ChrY:2656411..22687212 [GRCh37]
ChrY:2716411..21096600 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2 copy number gain See cases [RCV000050942] ChrY:2786811..22358529 [GRCh38]
ChrY:2654852..24504676 [GRCh37]
ChrY:2714852..22914064 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh38/hg38 Yp11.2(chrY:6724827-9007152)x0 copy number loss See cases [RCV000051305] ChrY:6724827..9007152 [GRCh38]
ChrY:6592868..8875193 [GRCh37]
ChrY:6652868..8935193 [NCBI36]
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Yp11.2(chrY:2786811-9007152)x2 copy number gain See cases [RCV000051006] ChrY:2786811..9007152 [GRCh38]
ChrY:2654852..8875193 [GRCh37]
ChrY:2714852..8935193 [NCBI36]
ChrY:Yp11.2		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26389995)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051767]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051767]|See cases [RCV000051767] ChrY:2786811..26389995 [GRCh38]
ChrY:2654852..28536142 [GRCh37]
ChrY:2714852..26945530 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2 copy number gain See cases [RCV000052582] ChrY:2783624..13011793 [GRCh38]
ChrY:2651665..15123706 [GRCh37]
ChrY:2711665..13633100 [NCBI36]
ChrY:Yp11.2-q11.221		 pathogenic
GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2 copy number gain See cases [RCV000052585] ChrY:2651665..59031480 [GRCh37]
ChrY:2711665..57440868 [NCBI36]
ChrY:Yp11.3-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786611-26409996)x2 copy number gain See cases [RCV000052586] ChrY:2786611..26409996 [GRCh38]
ChrY:2654652..28556143 [GRCh37]
ChrY:2714652..26965531 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2 copy number gain See cases [RCV000052587] ChrY:2786811..26463830 [GRCh38]
ChrY:2654852..28609977 [GRCh37]
ChrY:2714852..27019365 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2 copy number gain See cases [RCV000052588] ChrY:2786811..26483746 [GRCh38]
ChrY:2654852..28629893 [GRCh37]
ChrY:2714852..27039281 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2 copy number gain See cases [RCV000052551] ChrY:2783624..26637948 [GRCh38]
ChrY:2651665..28784095 [GRCh37]
ChrY:2711665..27193483 [NCBI36]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2 copy number gain See cases [RCV000054342] ChrY:2787210..22302412 [GRCh38]
ChrY:2655251..24448559 [GRCh37]
ChrY:2715251..22857947 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh38/hg38 Yp11.2(chrY:2863399-9007152)x2 copy number gain See cases [RCV000054343] ChrY:2863399..9007152 [GRCh38]
ChrY:2731440..8875193 [GRCh37]
ChrY:2791440..8935193 [NCBI36]
ChrY:Yp11.2		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2 copy number gain See cases [RCV000054344] ChrY:6478684..26574618 [GRCh38]
ChrY:6346725..28720765 [GRCh37]
ChrY:6406725..27130153 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x0 copy number loss See cases [RCV000133673] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x3 copy number gain See cases [RCV000133672] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.222(chrY:6255441-18435984)x2 copy number gain See cases [RCV000134034] ChrY:6255441..18435984 [GRCh38]
ChrY:6123482..20597870 [GRCh37]
ChrY:6183482..19057258 [NCBI36]
ChrY:Yp11.2-q11.222		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0 copy number loss See cases [RCV000134844] ChrY:6270281..26463761 [GRCh38]
ChrY:6138322..28609908 [GRCh37]
ChrY:6198322..27019296 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0 copy number loss See cases [RCV000135637] ChrY:10679..13139461 [GRCh38]
ChrY:10679..15251375 [GRCh37]
ChrY:679..13760769 [NCBI36]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0 copy number loss See cases [RCV000136110] ChrY:2786596..26575961 [GRCh38]
ChrY:2654637..28722108 [GRCh37]
ChrY:2714637..27131496 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2 copy number gain See cases [RCV000136851] ChrY:2855704..24288951 [GRCh38]
ChrY:2723745..26435098 [GRCh37]
ChrY:2783745..24844486 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0 copy number loss See cases [RCV000137555] ChrY:10701..17951506 [GRCh38]
ChrY:10701..20063386 [GRCh37]
ChrY:701..18572780 [NCBI36]
ChrY:Yp11.32-q11.222		 pathogenic
GRCh38/hg38 Yp11.2(chrY:5874108-7106335)x0 copy number loss See cases [RCV000137611] ChrY:5874108..7106335 [GRCh38]
ChrY:5742149..6974376 [GRCh37]
ChrY:5802149..7034376 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Yp11.2(chrY:6590056-8773201)x0 copy number loss See cases [RCV000138085] ChrY:6590056..8773201 [GRCh38]
ChrY:6458097..8641242 [GRCh37]
ChrY:6518097..8701242 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Yp11.2(chrY:6234800-8705376)x2 copy number gain See cases [RCV000138714] ChrY:6234800..8705376 [GRCh38]
ChrY:6102841..8573417 [GRCh37]
ChrY:6162841..8633417 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2 copy number gain See cases [RCV000138422] ChrY:2650559..59032389 [GRCh37]
ChrY:2710559..57441777 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0 copy number loss See cases [RCV000139324] ChrY:2133003..56884424 [GRCh38]
ChrY:1167123..59030571 [GRCh37]
ChrY:1137123..57439959 [NCBI36]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yp11.2(chrY:6522413-7456335)x2 copy number gain See cases [RCV000139608] ChrY:6522413..7456335 [GRCh38]
ChrY:6390454..7324376 [GRCh37]
ChrY:6450454..7384376 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.222(chrY:2782272-17454794)x2 copy number gain See cases [RCV000140647] ChrY:2782272..17454794 [GRCh38]
ChrY:2650313..19566674 [GRCh37]
ChrY:2710313..18076068 [NCBI36]
ChrY:Yp11.2-q11.222		 pathogenic
GRCh38/hg38 Yp11.2(chrY:6768680-7463286)x4 copy number gain See cases [RCV000140577] ChrY:6768680..7463286 [GRCh38]
ChrY:6636721..7331327 [GRCh37]
ChrY:6696721..7391327 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Yp11.2(chrY:6724827-8695905)x2 copy number gain See cases [RCV000141593] ChrY:6724827..8695905 [GRCh38]
ChrY:6592868..8563946 [GRCh37]
ChrY:6652868..8623946 [NCBI36]
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3 copy number gain See cases [RCV000143419] ChrY:301880..11680029 [GRCh38]
ChrY:168547..13800735 [GRCh37]
ChrY:158547..12310735 [NCBI36]
ChrY:Yp11.31-q11.21		 likely pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2 copy number gain See cases [RCV000148271] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2 copy number gain See cases [RCV000240246] ChrY:20297..59358845 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1 copy number loss See cases [RCV000240213] ChrY:10701..59349277 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2 copy number gain See cases [RCV000239812] ChrY:100002..59353228 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2 copy number gain See cases [RCV000239787] ChrY:21267..59349649 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2 copy number gain See cases [RCV000239958] ChrY:21267..59337042 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q11.221(chrY:100002-15906224)x2 copy number gain See cases [RCV000239888] ChrY:100002..15906224 [GRCh37]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2 copy number gain See cases [RCV000240301] ChrY:126426..59349649 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2 copy number gain See cases [RCV000240305] ChrY:126426..59353228 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:20297-59356174) copy number loss See cases [RCV000448395] ChrY:20297..59356174 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:1684070-36905226)x3 copy number gain See cases [RCV000510438] ChrY:1684070..36905226 [GRCh37]
ChrY:Yp11.32-q12		 uncertain significance
GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x2 copy number gain See cases [RCV000510700] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 uncertain significance
GRCh37/hg19 Yp11.2(chrY:6356262-9155955)x0 copy number loss See cases [RCV000511798] ChrY:6356262..9155955 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x0 copy number loss See cases [RCV000511418] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6118157-9180657)x2 copy number gain See cases [RCV000511721] ChrY:6118157..9180657 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28451874)x1 copy number loss See cases [RCV000511281] ChrY:168546..28451874 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6172979-6975071)x0 copy number loss not provided [RCV000684428] ChrY:6172979..6975071 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.2(chrY:6172979-9172727)x0 copy number loss not provided [RCV000684433] ChrY:6172979..9172727 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.2(chrY:6138309-9168128)x0 copy number loss not provided [RCV000684434] ChrY:6138309..9168128 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.31-q11.221(chrY:2650140-15125858)x0 copy number loss not provided [RCV000684442] ChrY:2650140..15125858 [GRCh37]
ChrY:Yp11.31-q11.221		 pathogenic
GRCh37/hg19 Yp11.32-q11.1(chrY:168807-13134517)x1,2 copy number gain not provided [RCV000684443] ChrY:168807..13134517 [GRCh37]
ChrY:Yp11.32-q11.1		 pathogenic
GRCh37/hg19 Yp11.31-q11.223(chrY:2650140-24070172)x2 copy number gain not provided [RCV000684444] ChrY:2650140..24070172 [GRCh37]
ChrY:Yp11.31-q11.223		 pathogenic
GRCh37/hg19 Yp11.31-q11.23(chrY:2655180-28727063)x0 copy number gain not provided [RCV000753972] ChrY:2655180..28727063 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2655180-58883690)x2 copy number gain not provided [RCV000753973] ChrY:2655180..58883690 [GRCh37]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6396326-9170545)x0 copy number loss not provided [RCV000753984] ChrY:6396326..9170545 [GRCh37]
ChrY:Yp11.2		 benign
GRCh37/hg19 Yp11.2(chrY:6425538-9170545)x0 copy number loss not provided [RCV000753985] ChrY:6425538..9170545 [GRCh37]
ChrY:Yp11.2		 likely benign
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033) copy number gain not provided [RCV000767654] ChrY:2650278..24445033 [GRCh37]
ChrY:Yp11.31-q11.223		 pathogenic
GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713) copy number gain not provided [RCV000767655] ChrY:588444..19565713 [GRCh37]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh37/hg19 Yp11.32-q11.221(chrY:1640371-19565713) copy number gain not provided [RCV000767656] ChrY:1640371..19565713 [GRCh37]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh37/hg19 Yp11.32-q11.221(chrY:201704-15182563)x2 copy number gain not provided [RCV000847611] ChrY:201704..15182563 [GRCh37]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6172777-9168128)x0 copy number loss not provided [RCV001007381] ChrY:6172777..9168128 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2 copy number gain not provided [RCV000847005] ChrY:2650140..20619847 [GRCh37]
ChrY:Yp11.31-q11.222		 pathogenic
GRCh37/hg19 Yp11.32-q11.222(chrY:118546-20603124)x2 copy number gain not provided [RCV000845980] ChrY:118546..20603124 [GRCh37]
ChrY:Yp11.32-q11.222		 pathogenic
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7019586)x1 copy number gain Sex reversal [RCV001090074] ChrY:2650140..7019586 [GRCh37]
ChrY:Yp11.31-11.2		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6135412-9155562)x2 copy number gain not provided [RCV001007379] ChrY:6135412..9155562 [GRCh37]
ChrY:Yp11.2		 uncertain significance
GRCh37/hg19 Yp11.32-q11.221(chrY:1-16095773)x2 copy number gain not provided [RCV001007376] ChrY:1..16095773 [GRCh37]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6371105-7342674)x2 copy number gain not provided [RCV001007382] ChrY:6371105..7342674 [GRCh37]
ChrY:Yp11.2		 uncertain significance
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2 copy number gain not provided [RCV001007377] ChrY:168546..28799937 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6152464-8586717)x3 copy number gain not provided [RCV001007380] ChrY:6152464..8586717 [GRCh37]
ChrY:Yp11.2		 likely benign
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7114097) copy number gain 46,XX sex reversal 1 [RCV002280744] ChrY:2650140..7114097 [GRCh37]
ChrY:Yp11.31-11.2		 pathogenic
GRCh37/hg19 Yp11.2(chrY:6148517-6818671)x2 copy number gain not provided [RCV001258425] ChrY:6148517..6818671 [GRCh37]
ChrY:Yp11.2		 uncertain significance
NM_001143.2(AMELY):c.574-1G>A single nucleotide variant Male infertility [RCV001283736] ChrY:6866079 [GRCh38]
ChrY:6734120 [GRCh37]
ChrY:Yp11.2		 uncertain significance
GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654) copy number loss not provided [RCV002221453] ChrY:2650424..28799654 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1 copy number loss Klinefelter syndrome [RCV002287643] ChrY:2650140..9651417 [GRCh37]
ChrY:Yp11.31-11.2		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:1-59373566) copy number gain Global developmental delay [RCV002280747] ChrY:1..59373566 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.2(chrY:3328726-6752191)x3 copy number gain not provided [RCV003485336] ChrY:3328726..6752191 [GRCh37]
ChrY:Yp11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:249
Count of miRNA genes:239
Interacting mature miRNAs:241
Transcripts:ENST00000215479, ENST00000383036, ENST00000383037
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
G42692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,604 - 11,316,668UniSTSGRCh37
GRCh37Y6,736,503 - 6,736,567UniSTSGRCh37
Build 36X11,226,525 - 11,226,589RGDNCBI36
CeleraX15,444,061 - 15,444,125RGD
CeleraY2,479,480 - 2,479,544UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.31-p22.1UniSTS
HuRefX9,096,227 - 9,096,291UniSTS
HuRefY4,295,557 - 4,295,621UniSTS
GDB:574132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,059 - 11,316,524UniSTSGRCh37
GRCh37Y6,736,647 - 6,737,115UniSTSGRCh37
Build 36X11,225,980 - 11,226,445RGDNCBI36
CeleraX15,443,516 - 15,443,981RGD
CeleraY2,478,932 - 2,479,400UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.31-p22.1UniSTS
HuRefX9,095,682 - 9,096,147UniSTS
HuRefY4,295,701 - 4,296,169UniSTS
SHGC-5464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,737,368 - 6,737,736UniSTSGRCh37
CeleraY2,478,311 - 2,478,679RGD
Cytogenetic MapYp11.2UniSTS
HuRefY4,296,422 - 4,296,789UniSTS
Stanford-G3 RH MapY423.0UniSTS
AMELX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,736,086 - 6,736,302UniSTSGRCh37
GRCh37X11,316,869 - 11,317,085UniSTSGRCh37
Build 36X11,226,790 - 11,227,006RGDNCBI36
CeleraY2,479,745 - 2,479,961UniSTS
CeleraX15,444,326 - 15,444,542RGD
HuRefY4,295,140 - 4,295,356UniSTS
HuRefX9,096,492 - 9,096,708UniSTS
G38362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,736,679 - 6,736,894UniSTSGRCh37
CeleraY2,479,153 - 2,479,368RGD
Cytogenetic MapYp11.2UniSTS
HuRefY4,295,733 - 4,295,948UniSTS
SHGC-36989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,734,012 - 6,734,111UniSTSGRCh37
CeleraY2,481,936 - 2,482,035RGD
Cytogenetic MapYp11.2UniSTS
HuRefY4,293,066 - 4,293,165UniSTS
TNG Radiation Hybrid MapY1602.0UniSTS
AMELY-4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,736,341 - 6,737,221UniSTSGRCh37
CeleraY2,478,826 - 2,479,706UniSTS
HuRefY4,295,395 - 4,296,275UniSTS
AMELY-6-2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,733,694 - 6,734,384UniSTSGRCh37
CeleraY2,481,663 - 2,482,353UniSTS
HuRefY4,292,748 - 4,293,438UniSTS
AMELY-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,741,760 - 6,742,332UniSTSGRCh37
CeleraY2,473,715 - 2,474,287UniSTS
HuRefY4,300,813 - 4,301,385UniSTS
AMELY-2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,740,453 - 6,740,951UniSTSGRCh37
CeleraY2,475,096 - 2,475,594UniSTS
HuRefY4,299,506 - 4,300,004UniSTS
AMELY-3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,737,830 - 6,738,427UniSTSGRCh37
CeleraY2,477,620 - 2,478,217UniSTS
HuRefY4,296,883 - 4,297,480UniSTS
AMELY-5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,735,981 - 6,736,888UniSTSGRCh37
CeleraY2,479,159 - 2,480,066UniSTS
HuRefY4,295,035 - 4,295,942UniSTS
AMELY-6-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,733,574 - 6,734,318UniSTSGRCh37
CeleraY2,481,729 - 2,482,473UniSTS
HuRefY4,292,628 - 4,293,372UniSTS


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
Low 9 324 5 1 22 1 1 6 97 330 4 3
Below cutoff 253 156 183 101 26 31 520 181 222 87 397 154 71 271 258 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000215479   ⟹   ENSP00000215479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY6,865,926 - 6,874,027 (-)Ensembl
RefSeq Acc Id: ENST00000383036   ⟹   ENSP00000372505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY6,866,073 - 6,872,608 (-)Ensembl
RefSeq Acc Id: ENST00000651267   ⟹   ENSP00000498344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY6,865,918 - 6,911,752 (-)Ensembl
RefSeq Acc Id: NM_001143   ⟹   NP_001134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y6,865,918 - 6,911,752 (-)NCBI
GRCh37Y6,733,959 - 6,742,068 (-)RGD
Build 36Y6,793,959 - 6,802,068 (-)NCBI Archive
CeleraY2,473,979 - 2,482,088 (+)RGD
HuRefY4,293,013 - 4,301,121 (-)ENTREZGENE
T2T-CHM13v2.0Y6,518,242 - 6,564,080 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364814   ⟹   NP_001351743
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y6,865,918 - 6,874,027 (-)NCBI
T2T-CHM13v2.0Y6,518,242 - 6,526,353 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001134   ⟸   NM_001143
- Peptide Label: isoform 1 precursor
- UniProtKB: Q99218 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351743   ⟸   NM_001364814
- Peptide Label: isoform 2 precursor
- UniProtKB: Q99218 (UniProtKB/Swiss-Prot),   Q6RWT1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000215479   ⟸   ENST00000215479
RefSeq Acc Id: ENSP00000498344   ⟸   ENST00000651267
RefSeq Acc Id: ENSP00000372505   ⟸   ENST00000383036

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99218-F1-model_v2 AlphaFold Q99218 1-206 view protein structure

Promoters
RGD ID:6809447
Promoter ID:HG_KWN:68835
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:ENST00000383036,   UC004FRA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36Y6,801,406 - 6,801,906 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:462 AgrOrtholog
COSMIC AMELY COSMIC
Ensembl Genes ENSG00000099721 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000383036 ENTREZGENE
  ENST00000383036.1 UniProtKB/Swiss-Prot
  ENST00000651267 ENTREZGENE
  ENST00000651267.2 UniProtKB/Swiss-Prot
GTEx ENSG00000099721 GTEx
HGNC ID HGNC:462 ENTREZGENE
Human Proteome Map AMELY Human Proteome Map
InterPro Amelogenin UniProtKB/Swiss-Prot
KEGG Report hsa:266 UniProtKB/Swiss-Prot
NCBI Gene 266 ENTREZGENE
OMIM 410000 OMIM
PANTHER AMELOGENIN, Y ISOFORM UniProtKB/Swiss-Prot
  PTHR46794 UniProtKB/Swiss-Prot
Pfam Amelogenin UniProtKB/Swiss-Prot
PharmGKB PA24767 PharmGKB
PRINTS AMELOGENIN UniProtKB/Swiss-Prot
SMART Amelogenin UniProtKB/Swiss-Prot
UniProt AMELY_HUMAN UniProtKB/Swiss-Prot
  Q6RWT1 ENTREZGENE
  Q99218 ENTREZGENE
UniProt Secondary Q6RWT1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 AMELY  amelogenin Y-linked  AMELY  amelogenin, Y-linked  Symbol and/or name change 5135510 APPROVED