TTTY3B (testis expressed transcript, Y-linked 3B) - Rat Genome Database

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Gene: TTTY3B (testis expressed transcript, Y-linked 3B) Homo sapiens
Analyze
Symbol: TTTY3B
Name: testis expressed transcript, Y-linked 3B (Ensembl:testis-specific transcript, Y-linked 3B)
RGD ID: 1349314
HGNC Page HGNC:31888
Description: There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LNCRNA00122; NCRNA00122; testis-specific transcript, Y-linked 3B; testis-specific transcript, Y-linked 3B (non-protein coding)
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y23,936,727 - 23,941,622 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY23,936,727 - 23,941,622 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y26,082,874 - 26,087,769 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y24,492,262 - 24,497,157 (-)NCBINCBI36Build 36hg18NCBI36
CeleraY10,156,303 - 10,161,201 (-)NCBICelera
Cytogenetic MapYq11.23NCBI
HuRefY18,653,729 - 18,658,627 (+)NCBIHuRef
T2T-CHM13v2.0Y24,920,947 - 24,925,842 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References
Additional References at PubMed
PMID:12815422  


Genomics


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
GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0 copy number loss See cases [RCV000050825] ChrY:14698756..59031480 [GRCh37]
ChrY:13208776..57440868 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000050370] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:Yq11.221-12		 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 Yq11.221-12(chrY:12586822-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|See cases [RCV000051768] ChrY:12586822..57208726 [GRCh38]
ChrY:14698756..59354877 [GRCh37]
ChrY:13208776..57764265 [NCBI36]
ChrY:Yq11.221-12		 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-q11.23(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
GRCh38/hg38 Yq11.223-11.23(chrY:22728116-24198731)x2 copy number gain See cases [RCV000054354] ChrY:22728116..24198731 [GRCh38]
ChrY:24874263..26344878 [GRCh37]
ChrY:23283651..24754266 [NCBI36]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 copy number loss See cases [RCV000133870] ChrY:14076802..57165209 [GRCh38]
ChrY:16188682..59311360 [GRCh37]
ChrY:14698076..57720748 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:14025789..57764265 [NCBI36]
ChrY:Yq11.221-12		 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 Yq11.221-12(chrY:12965721-57212647)x0 copy number loss See cases [RCV000135325] ChrY:12965721..57212647 [GRCh38]
ChrY:15077631..59358798 [GRCh37]
ChrY:13587025..57768186 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x3 copy number gain See cases [RCV000135297] ChrY:21927773..26133012 [GRCh38]
ChrY:24073920..28279159 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x0 copy number loss See cases [RCV000135298] ChrY:21927773..26133012 [GRCh38]
ChrY:24073920..28279159 [GRCh37]
ChrY:22483308..26688547 [NCBI36]
ChrY:Yq11.223-11.23		 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
GRCh37/hg19 Yq11.221-12(chrY:16183453-59011762)x2 copy number gain See cases [RCV000135766] ChrY:16183453..59011762 [GRCh37]
ChrY:14692847..57421150 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18664321-26637948)x2 copy number gain See cases [RCV000135767] ChrY:18664321..26637948 [GRCh38]
ChrY:20826207..28784095 [GRCh37]
ChrY:19285595..27193483 [NCBI36]
ChrY:Yq11.222-12		 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 Yq11.221-12(chrY:13948013-57208726)x0 copy number loss See cases [RCV000135529] ChrY:13948013..57208726 [GRCh38]
ChrY:16059893..59354877 [GRCh37]
ChrY:14569287..57764265 [NCBI36]
ChrY:Yq11.221-12		 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 Yq11.221-12(chrY:15631816-57211010)x0 copy number loss See cases [RCV000135882] ChrY:15631816..57211010 [GRCh38]
ChrY:17743696..59357161 [GRCh37]
ChrY:16253090..57766549 [NCBI36]
ChrY:Yq11.221-12		 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 Yq11.222-12(chrY:18545732-57189762)x0 copy number loss See cases [RCV000137556] ChrY:18545732..57189762 [GRCh38]
ChrY:20707618..59335913 [GRCh37]
ChrY:19167006..57745301 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0 copy number loss See cases [RCV000138875] ChrY:14062885..57189762 [GRCh38]
ChrY:16174765..59335913 [GRCh37]
ChrY:14684159..57745301 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.223-11.23(chrY:22727003-25749348)x0 copy number loss See cases [RCV000138341] ChrY:22727003..25749348 [GRCh38]
ChrY:24873150..27895495 [GRCh37]
ChrY:23282538..26304883 [NCBI36]
ChrY:Yq11.223-11.23		 pathogenic
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 Yq11.221-12(chrY:16311571-57190586)x0 copy number loss See cases [RCV000139941] ChrY:16311571..57190586 [GRCh38]
ChrY:18423451..59336737 [GRCh37]
ChrY:16932845..57746125 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
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 Yq11.21-12(chrY:10624004-57190586)x0 copy number loss See cases [RCV000141809] ChrY:10624004..57190586 [GRCh38]
ChrY:13134518..59336737 [GRCh37]
ChrY:11244518..57746125 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Yq11.223-11.23(chrY:23127736-24882383)x0 copy number loss See cases [RCV000141479] ChrY:23127736..24882383 [GRCh38]
ChrY:25273883..27028530 [GRCh37]
ChrY:23683271..25437918 [NCBI36]
ChrY:Yq11.223-11.23		 benign
GRCh38/hg38 Yq11.223-11.23(chrY:23132736-24882383)x0 copy number loss See cases [RCV000141500] ChrY:23132736..24882383 [GRCh38]
ChrY:25278883..27028530 [GRCh37]
ChrY:23688271..25437918 [NCBI36]
ChrY:Yq11.223-11.23		 benign
GRCh38/hg38 Yq11.223-11.23(chrY:23127722-24882383)x0 copy number loss See cases [RCV000141537] ChrY:23127722..24882383 [GRCh38]
ChrY:25273869..27028530 [GRCh37]
ChrY:23683257..25437918 [NCBI36]
ChrY:Yq11.223-11.23		 likely benign
GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1 copy number gain See cases [RCV000142197] ChrY:12702930..26653790 [GRCh38]
ChrY:14814859..28799937 [GRCh37]
ChrY:13324253..27209325 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12881571-26653790)x1 copy number gain See cases [RCV000142059] ChrY:12881571..26653790 [GRCh38]
ChrY:14993486..28799937 [GRCh37]
ChrY:13502880..27209325 [NCBI36]
ChrY:Yq11.221-12		 likely benign
GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4 copy number gain See cases [RCV000143421] ChrY:11680193..26653790 [GRCh38]
ChrY:13800899..28799937 [GRCh37]
ChrY:12310899..27209325 [NCBI36]
ChrY:Yq11.21-12		 likely pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000148059] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 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:21267-59349649)x2 copy number gain See cases [RCV000239787] ChrY:21267..59349649 [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:21267-59337042)x2 copy number gain See cases [RCV000239958] ChrY:21267..59337042 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16188682-59349649)x0 copy number loss See cases [RCV000240102] ChrY:16188682..59349649 [GRCh37]
ChrY:Yq11.221-12		 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 Yq11.221-12(chrY:15415024-59349591)x0 copy number loss See cases [RCV000446382] ChrY:15415024..59349591 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.223-12(chrY:24108372-59358798)x0 copy number loss See cases [RCV000447015] ChrY:24108372..59358798 [GRCh37]
ChrY:Yq11.223-12		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:20805226-59336998)x0 copy number loss See cases [RCV000447602] ChrY:20805226..59336998 [GRCh37]
ChrY:Yq11.222-12		 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 Yq11.222-11.23(chrY:20359545-27839018)x2 copy number gain See cases [RCV000448226] ChrY:20359545..27839018 [GRCh37]
ChrY:Yq11.222-11.23		 likely benign
GRCh37/hg19 Yq11.223-12(chrY:24073794-59336737)x0 copy number loss See cases [RCV000512099] ChrY:24073794..59336737 [GRCh37]
ChrY:Yq11.223-12		 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 Yq11.21-12(chrY:13871147-59336737)x0 copy number loss See cases [RCV000510252] ChrY:13871147..59336737 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:25849444-27811878)x0 copy number loss See cases [RCV000510651] ChrY:25849444..27811878 [GRCh37]
ChrY:Yq11.223-11.23		 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 Yp11.31-q11.23(chrY:2650141-28799937)x0 copy number loss See cases [RCV000511418] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28451874)x1 copy number loss See cases [RCV000511281] ChrY:168546..28451874 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24740855-28321739)x0 copy number loss not provided [RCV000684435] ChrY:24740855..28321739 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28352893)x0 copy number loss not provided [RCV000684436] ChrY:24644460..28352893 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28451874)x2 copy number gain not provided [RCV000684437] ChrY:24644460..28451874 [GRCh37]
ChrY:Yq11.223-11.23		 likely benign
GRCh37/hg19 Yq11.223-11.23(chrY:24663585-28799937)x0 copy number loss not provided [RCV000684438] ChrY:24663585..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24073794-28799937)x0 copy number loss not provided [RCV000684440] ChrY:24073794..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:19574920-28423925)x2 copy number gain not provided [RCV000684441] ChrY:19574920..28423925 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0 copy number loss not provided [RCV000684445] ChrY:13410538..59032808 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24500602-28727063)x3 copy number gain not provided [RCV000754073] ChrY:24500602..28727063 [GRCh37]
ChrY:Yq11.223-11.23		 benign
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely 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 Yq11.223-11.23(chrY:24522363-28727063)x3 copy number gain not provided [RCV000754076] ChrY:24522363..28727063 [GRCh37]
ChrY:Yq11.223-11.23		 benign
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 Yq11.1-12(chrY:13132024-28817458)x0 copy number loss not provided [RCV000754010] ChrY:13132024..28817458 [GRCh37]
ChrY:Yq11.1-12		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24500602-28742675)x3 copy number gain not provided [RCV000754074] ChrY:24500602..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24461432-28742675)x3 copy number gain not provided [RCV000754072] ChrY:24461432..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24461432-28701583)x3 copy number gain not provided [RCV000754071] ChrY:24461432..28701583 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24522363-28701583)x3 copy number gain not provided [RCV000754075] ChrY:24522363..28701583 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24522363-28742675)x3 copy number gain not provided [RCV000754077] ChrY:24522363..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0 copy number loss Male infertility [RCV001090076] ChrY:18546605..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Male infertility [RCV001090084] ChrY:13800703..28799937 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0 copy number loss Male infertility [RCV001090085] ChrY:15427283..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0 copy number loss Male infertility [RCV001090069] ChrY:20608554..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0 copy number loss Male infertility [RCV001090077] ChrY:20111978..28423925 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0 copy number loss Male infertility [RCV001090083] ChrY:21719615..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15190336-59343488)x0 copy number loss not provided [RCV000847612] ChrY:15190336..59343488 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0 copy number loss Male infertility [RCV001090070] ChrY:24644460..28341390 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0 copy number loss Male infertility [RCV001090072] ChrY:23887108..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)x0 copy number loss not provided [RCV000845979] ChrY:21035530..59336737 [GRCh37]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16053146-59343488)x2 copy number gain not provided [RCV000848067] ChrY:16053146..59343488 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21039792-28799937)x0 copy number loss not provided [RCV000847006] ChrY:21039792..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24644461-28341390)x1 copy number loss not provided [RCV002472673] ChrY:24644461..28341390 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0 copy number loss not provided [RCV002473934] ChrY:14370813..59373566 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.223-12(chrY:24770884-59336737)x0 copy number loss not provided [RCV001007400] ChrY:24770884..59336737 [GRCh37]
ChrY:Yq11.223-12		 pathogenic
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 Yq11.223-11.23(chrY:24644460-28423925)x2 copy number gain not provided [RCV001007399] ChrY:24644460..28423925 [GRCh37]
ChrY:Yq11.223-11.23		 likely benign
GRCh37/hg19 Yq11.221-11.23(chrY:19567361-28458663)x2 copy number gain not provided [RCV001007396] ChrY:19567361..28458663 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0 copy number loss Male infertility [RCV001090075] ChrY:24770884..28355431 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0 copy number loss Male infertility [RCV001090079] ChrY:24651462..28328263 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:25403868-27224389)x0 copy number loss not provided [RCV001258430] ChrY:25403868..27224389 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh37/hg19 Yq11.223-11.23(chrY:24770885-28410810)x0 copy number loss not provided [RCV001834172] ChrY:24770885..28410810 [GRCh37]
ChrY:Yq11.223-11.23		 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 Yq11.21-11.23(chrY:13905421-28799654) copy number loss not provided [RCV002221454] ChrY:13905421..28799654 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:25856867-28113239)x2 copy number gain Autism [RCV002286333] ChrY:25856867..28113239 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh37/hg19 Yq11.223-11.23(chrY:24985375-28458663)x2 copy number gain See cases [RCV002286334] ChrY:24985375..28458663 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
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 Yq11.223-11.23(chrY:25856644-27811846)x2 copy number gain See cases [RCV002292207] ChrY:25856644..27811846 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
GRCh37/hg19 Yq11.221-12(chrY:16203971-59336737)x0 copy number loss not provided [RCV002474928] ChrY:16203971..59336737 [GRCh37]
ChrY:Yq11.221-12		 uncertain significance
GRCh37/hg19 Yq11.221-11.23(chrY:18921311-28799937)x0 copy number loss not provided [RCV003482939] ChrY:18921311..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:25726545-28231661)x0 copy number loss not provided [RCV003482950] ChrY:25726545..28231661 [GRCh37]
ChrY:Yq11.223-11.23		 uncertain significance
Markers in Region
L17696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y27,873,137 - 27,873,431UniSTSGRCh37
GRCh37Y26,088,975 - 26,089,269UniSTSGRCh37
CeleraY10,162,407 - 10,162,701RGD
Cytogenetic MapYq11.223UniSTS
Cytogenetic MapYq11.23UniSTS
HuRefY18,652,229 - 18,652,523UniSTS


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 musculoskeletal system nervous system respiratory system sensory system
High
Medium 1
Low 1 2
Below cutoff 1 1 3 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000631331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY23,936,727 - 23,941,622 (-)Ensembl
RefSeq Acc Id: NR_002176
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y23,936,727 - 23,941,622 (-)NCBI
GRCh37Y26,082,874 - 26,087,769 (-)RGD
Build 36Y24,492,262 - 24,497,157 (-)NCBI Archive
HuRefY18,653,729 - 18,658,627 (+)ENTREZGENE
T2T-CHM13v2.0Y24,920,947 - 24,925,842 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC TTTY3B COSMIC
Ensembl Genes ENSG00000280961 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000631331 ENTREZGENE
GTEx ENSG00000280961 GTEx
HGNC ID HGNC:31888 ENTREZGENE
Human Proteome Map TTTY3B Human Proteome Map
NCBI Gene 474148 ENTREZGENE
PharmGKB PA134913314 PharmGKB
RNAcentral URS00001D8277 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-07-10 TTTY3B  testis expressed transcript, Y-linked 3B  TTTY3B  testis-specific transcript, Y-linked 3B  Symbol and/or name change 19259463 PROVISIONAL
2018-05-22 TTTY3B  testis-specific transcript, Y-linked 3B    testis-specific transcript, Y-linked 3B (non-protein coding)  Symbol and/or name change 5135510 APPROVED
2011-09-01 TTTY3B  testis-specific transcript, Y-linked 3B (non-protein coding)  TTTY3B  testis-specific transcript, Y-linked 3B (non-protein coding)  Symbol and/or name change 5135510 APPROVED